| NM_002529.4(NTRK1):c.817C>T (p.Arg273Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000554710]|not provided [RCV003222018] |
Chr1:156871722 [GRCh38]
Chr1:156841514 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.376G>A (p.Ala126Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000558924]|not provided [RCV004721413] |
Chr1:156866926 [GRCh38]
Chr1:156836718 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000552631]|Inborn genetic diseases [RCV002431485]|not provided [RCV000520846] |
Chr1:156881493 [GRCh38]
Chr1:156851285 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2334C>T (p.His778=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000531042]|Inborn genetic diseases [RCV002448620] |
Chr1:156881585 [GRCh38]
Chr1:156851377 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1528A>T (p.Ile510Phe) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003343888]|Inborn genetic diseases [RCV002395253]|not provided [RCV000521036] |
Chr1:156876106 [GRCh38]
Chr1:156845898 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.311G>A (p.Arg104His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000538023]|Inborn genetic diseases [RCV002323917]|not provided [RCV001726213] |
Chr1:156864751 [GRCh38]
Chr1:156834543 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.366C>G (p.Leu122=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000544129]|Inborn genetic diseases [RCV002456051] |
Chr1:156866916 [GRCh38]
Chr1:156836708 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.280A>C (p.Arg94=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000530155]|Inborn genetic diseases [RCV002438294] |
Chr1:156864421 [GRCh38]
Chr1:156834213 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000533247]|Hereditary insensitivity to pain with anhidrosis [RCV000764985]|Inborn genetic diseases [RCV002395292] |
Chr1:156875645 [GRCh38]
Chr1:156845437 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354C>T (p.Arg452Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000559015]|Inborn genetic diseases [RCV002384046]|not provided [RCV001755797] |
Chr1:156875008 [GRCh38]
Chr1:156844800 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NTRK1, 1-BP DEL, 1726C |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000013094] |
Chr1:1q21-q22 |
pathogenic |
| NM_002529.4(NTRK1):c.2046+3A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013095] |
Chr1:156879365 [GRCh38]
Chr1:156849157 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NTRK1, IVS4, G-C, -1 AND ARG85SER |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013098] |
Chr1:1q21-q22 |
pathogenic |
| NTRK1, IVS7AS, T-A, -33 |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013099] |
Chr1:1q21-q22 |
pathogenic |
| NTRK1, 1-BP INS, 1926T |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV000013102] |
Chr1:1q21-q22 |
pathogenic |
| NM_002529.4(NTRK1):c.1882C>T (p.Leu628=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000550533]|Inborn genetic diseases [RCV002413445] |
Chr1:156879198 [GRCh38]
Chr1:156848990 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2377G>T (p.Asp793Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000555950] |
Chr1:156881628 [GRCh38]
Chr1:156851420 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000541988]|Hereditary insensitivity to pain with anhidrosis [RCV000764987]|not provided [RCV000523624] |
Chr1:156881473 [GRCh38]
Chr1:156851265 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.207_208del (p.Glu70fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000022807] |
Chr1:156861141..156861142 [GRCh38]
Chr1:156830933..156830934 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013096] |
Chr1:156876496 [GRCh38]
Chr1:156846288 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.2339G>C (p.Arg780Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013097] |
Chr1:156881590 [GRCh38]
Chr1:156851382 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000013100]|Hereditary insensitivity to pain with anhidrosis [RCV000030674]|not provided [RCV000712453]|not specified [RCV000592514] |
Chr1:156879126 [GRCh38]
Chr1:156848918 [GRCh37]
Chr1:1q23.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000013101]|Hereditary insensitivity to pain with anhidrosis [RCV000031916]|not provided [RCV000712454]|not specified [RCV000127263] |
Chr1:156879154 [GRCh38]
Chr1:156879154..156879155 [GRCh38]
Chr1:156848946 [GRCh37]
Chr1:156848946..156848947 [GRCh37]
Chr1:1q23.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013103] |
Chr1:156880036 [GRCh38]
Chr1:156849828 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789504]|Hereditary insensitivity to pain with anhidrosis [RCV000013104] |
Chr1:156873858 [GRCh38]
Chr1:156843650 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1759A>G (p.Met587Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000013105] |
Chr1:156876526 [GRCh38]
Chr1:156846318 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1660del (p.Arg554fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000020468] |
Chr1:156876427 [GRCh38]
Chr1:156846219 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV000020469]|not provided [RCV000479042] |
Chr1:156879176..156879177 [GRCh38]
Chr1:156848968..156848969 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000020470] |
Chr1:156879336 [GRCh38]
Chr1:156849128 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.851-33T>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000020471]|Inborn genetic diseases [RCV000190819]|not provided [RCV002468974] |
Chr1:156873600 [GRCh38]
Chr1:156843392 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.25C>T (p.Gln9Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000031917] |
Chr1:156860959 [GRCh38]
Chr1:156830751 [GRCh37]
Chr1:1q23.1 |
pathogenic|not provided |
| GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] |
Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3 |
pathogenic |
| NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001081416]|not provided [RCV000757575]|not specified [RCV000173175] |
Chr1:156860987 [GRCh38]
Chr1:156830779 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014215.2(INSRR):c.3271G>A (p.Glu1091Lys) |
single nucleotide variant |
Malignant melanoma [RCV000059925] |
Chr1:156842238 [GRCh38]
Chr1:156812030 [GRCh37]
Chr1:155078654 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_002529.4(NTRK1):c.514G>A (p.Glu172Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003338404]|not provided [RCV001509067] |
Chr1:156868189 [GRCh38]
Chr1:156837981 [GRCh37]
Chr1:155104605 [NCBI36]
Chr1:1q23.1 |
uncertain significance|not provided |
| NM_001007792.1(NTRK1):c.426A>C (p.Glu142Asp) |
single nucleotide variant |
Malignant melanoma [RCV000064209] |
Chr1:156868191 [GRCh38]
Chr1:156837983 [GRCh37]
Chr1:155104607 [NCBI36]
Chr1:1q23.1 |
not provided |
| NM_002529.4(NTRK1):c.1354+13_1634del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000055678] |
Chr1:156875018..156876398 [GRCh38]
Chr1:156844810..156846190 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1177+31C>T |
single nucleotide variant |
not provided [RCV003222641] |
Chr1:156873990 [GRCh38]
Chr1:156843782 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000287221]|not provided [RCV004714496]|not specified [RCV000516727] |
Chr1:156879203 [GRCh38]
Chr1:156848995 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2047-16T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001532841]|not provided [RCV004714497]|not specified [RCV000174854] |
Chr1:156879983 [GRCh38]
Chr1:156849775 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2052A>G (p.Gly684=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000281203]|NTRK1-related disorder [RCV003965061]|not provided [RCV004713339]|not specified [RCV001657791] |
Chr1:156880004 [GRCh38]
Chr1:156849796 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001235402]|not provided [RCV000171160] |
Chr1:156879262 [GRCh38]
Chr1:156849054 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_002529.4(NTRK1):c.717+4A>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000148945] |
Chr1:156868651 [GRCh38]
Chr1:156838443 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000148946] |
Chr1:156876128 [GRCh38]
Chr1:156845920 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|not provided |
| NM_014215.3(INSRR):c.430A>G (p.Asn144Asp) |
single nucleotide variant |
not specified [RCV004258814] |
Chr1:156853959 [GRCh38]
Chr1:156823751 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1393T>C (p.Ser465Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002001821] |
Chr1:156875558 [GRCh38]
Chr1:156845350 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3484G>A (p.Glu1162Lys) |
single nucleotide variant |
not specified [RCV004250060] |
Chr1:156841708 [GRCh38]
Chr1:156811500 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2062T>C (p.Cys688Arg) |
single nucleotide variant |
not specified [RCV004250750] |
Chr1:156845731 [GRCh38]
Chr1:156815523 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.229A>T (p.Thr77Ser) |
single nucleotide variant |
not specified [RCV004249111] |
Chr1:156854160 [GRCh38]
Chr1:156823952 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000394770]|not provided [RCV000224131]|not specified [RCV000179356] |
Chr1:156868640 [GRCh38]
Chr1:156838432 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_014215.3(INSRR):c.584C>A (p.Thr195Asn) |
single nucleotide variant |
not specified [RCV004278257] |
Chr1:156853805 [GRCh38]
Chr1:156823597 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000528062]|Inborn genetic diseases [RCV002415745]|not provided [RCV000174855]|not specified [RCV001797660] |
Chr1:156880009 [GRCh38]
Chr1:156849801 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 |
copy number gain |
See cases [RCV000139902] |
Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1 |
pathogenic |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_002529.4(NTRK1):c.1522C>A (p.Arg508=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000391150]|Inborn genetic diseases [RCV002392824]|NTRK1-related disorder [RCV003957532]|not specified [RCV000608164] |
Chr1:156876100 [GRCh38]
Chr1:156845892 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000401539]|Inborn genetic diseases [RCV002365334]|NTRK1-related disorder [RCV003940087]|not specified [RCV000433535] |
Chr1:156874611 [GRCh38]
Chr1:156844403 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.360-2A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000191113] |
Chr1:156866908 [GRCh38]
Chr1:156836700 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1040G>C (p.Arg347Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000191114] |
Chr1:156873822 [GRCh38]
Chr1:156843614 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1252-15C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000297900]|not specified [RCV000444270] |
Chr1:156874891 [GRCh38]
Chr1:156844683 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708810]|Hereditary insensitivity to pain with anhidrosis [RCV000291812]|Inborn genetic diseases [RCV002348032]|NTRK1-related disorder [RCV003897665]|not provided [RCV001509068]|not specified [RCV005407030] |
Chr1:156868245 [GRCh38]
Chr1:156838037 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.375C>T (p.Asn125=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000274129]|Inborn genetic diseases [RCV002365331] |
Chr1:156866925 [GRCh38]
Chr1:156836717 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000275643]|Inborn genetic diseases [RCV002402009]|not provided [RCV001706435] |
Chr1:156876495 [GRCh38]
Chr1:156846287 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000285911]|Inborn genetic diseases [RCV002365333]|not provided [RCV000489659] |
Chr1:156868571 [GRCh38]
Chr1:156838363 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.212+10C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000259624]|not provided [RCV001706433]|not specified [RCV000440141] |
Chr1:156861156 [GRCh38]
Chr1:156830948 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2047-11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000377964]|not provided [RCV001668637] |
Chr1:156879988 [GRCh38]
Chr1:156879988..156879989 [GRCh38]
Chr1:156849780 [GRCh37]
Chr1:156849780..156849781 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.1860C>T (p.Gly620=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000379244]|not provided [RCV001668636]|not specified [RCV001706436] |
Chr1:156879176 [GRCh38]
Chr1:156848968 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.631G>A (p.Val211Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000382485]|Inborn genetic diseases [RCV002365332]|not provided [RCV001509069] |
Chr1:156868561 [GRCh38]
Chr1:156838353 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000383811]|Inborn genetic diseases [RCV002338871]|not provided [RCV000596082] |
Chr1:156868184 [GRCh38]
Chr1:156837976 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708821]|Hereditary insensitivity to pain with anhidrosis [RCV000366642]|Inborn genetic diseases [RCV002411184]|not provided [RCV000591215] |
Chr1:156879124 [GRCh38]
Chr1:156848916 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1674G>A (p.Gln558=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000366755]|not provided [RCV001683171]|not specified [RCV000518637] |
Chr1:156876441 [GRCh38]
Chr1:156846233 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.288-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000369433]|not provided [RCV004713523]|not specified [RCV000431726] |
Chr1:156864720 [GRCh38]
Chr1:156834512 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.2202G>A (p.Thr734=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000372018]|not provided [RCV004713525]|not specified [RCV000439601] |
Chr1:156880154 [GRCh38]
Chr1:156849946 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000525243] |
Chr1:156860999 [GRCh38]
Chr1:156830791 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000299635]|Inborn genetic diseases [RCV002408936]|NTRK1-related disorder [RCV003947731]|not provided [RCV000755590]|not specified [RCV000220958] |
Chr1:156860950 [GRCh38]
Chr1:156830742 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708820]|Hereditary insensitivity to pain with anhidrosis [RCV001276831]|Inborn genetic diseases [RCV002399797]|not provided [RCV000221544] |
Chr1:156876428 [GRCh38]
Chr1:156846220 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000545651]|NTRK1-related disorder [RCV003929930]|not provided [RCV000224279]|not specified [RCV000236228] |
Chr1:156881590 [GRCh38]
Chr1:156851382 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1995G>A (p.Lys665=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000321020]|Inborn genetic diseases [RCV002418143] |
Chr1:156879311 [GRCh38]
Chr1:156849103 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.470G>A (p.Arg157His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000509462]|Inborn genetic diseases [RCV002338770]|not provided [RCV000235585] |
Chr1:156868145 [GRCh38]
Chr1:156837937 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance|not provided |
| NM_002529.4(NTRK1):c.1444A>T (p.Lys482Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003987474]|not provided [RCV000235671] |
Chr1:156875609 [GRCh38]
Chr1:156845401 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000985097]|not provided [RCV000236167] |
Chr1:156868201 [GRCh38]
Chr1:156837993 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631353]|Inborn genetic diseases [RCV002338773]|not provided [RCV001310877] |
Chr1:156868180 [GRCh38]
Chr1:156837972 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) |
single nucleotide variant |
Hereditary cancer [RCV003492017]|Hereditary insensitivity to pain with anhidrosis [RCV000284934]|Inborn genetic diseases [RCV002374386]|NTRK1-related disorder [RCV003919995]|not provided [RCV000236758]|not specified [RCV001658074] |
Chr1:156873647 [GRCh38]
Chr1:156843439 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.254G>A (p.Arg85His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000861307]|Inborn genetic diseases [RCV002436060]|not provided [RCV001705314]|not specified [RCV000236816] |
Chr1:156864395 [GRCh38]
Chr1:156834187 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
not provided [RCV000237001] |
Chr1:156868235 [GRCh38]
Chr1:156838027 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys) |
single nucleotide variant |
Hereditary cancer [RCV005235202]|Hereditary insensitivity to pain with anhidrosis [RCV001079270]|not provided [RCV000237064] |
Chr1:156873722 [GRCh38]
Chr1:156843514 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708816]|Hereditary insensitivity to pain with anhidrosis [RCV000555707]|not provided [RCV003409766] |
Chr1:156874392 [GRCh38]
Chr1:156844184 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.428+12C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000331492]|not provided [RCV004710724]|not specified [RCV000420772] |
Chr1:156866990 [GRCh38]
Chr1:156836782 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.585G>A (p.Thr195=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000325504]|Inborn genetic diseases [RCV002356403]|NTRK1-related disorder [RCV003967821]|not provided [RCV001576585] |
Chr1:156868515 [GRCh38]
Chr1:156838307 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000337494]|not provided [RCV001706434] |
Chr1:156873862 [GRCh38]
Chr1:156843654 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000338627]|Inborn genetic diseases [RCV002429243]|not provided [RCV003884447]|not specified [RCV000426510] |
Chr1:156880121 [GRCh38]
Chr1:156849913 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1806-4del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000328341]|Inborn genetic diseases [RCV002411183]|not provided [RCV000712457] |
Chr1:156879118 [GRCh38]
Chr1:156848910 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000343152] |
Chr1:156868588 [GRCh38]
Chr1:156838380 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.287+12G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000317086]|not provided [RCV001668635] |
Chr1:156864440 [GRCh38]
Chr1:156834232 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000351346]|Inborn genetic diseases [RCV002446538] |
Chr1:156881606 [GRCh38]
Chr1:156851398 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.604A>G (p.Asn202Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000536192] |
Chr1:156868534 [GRCh38]
Chr1:156838326 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.450G>T (p.Leu150=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000537111]|Inborn genetic diseases [RCV002341260] |
Chr1:156868125 [GRCh38]
Chr1:156837917 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000355086]|not provided [RCV004713524]|not specified [RCV000432013] |
Chr1:156874985 [GRCh38]
Chr1:156844777 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.157G>C (p.Asp53His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000356782]|Inborn genetic diseases [RCV002402008]|NTRK1-related disorder [RCV003957531]|not provided [RCV001532556] |
Chr1:156861091 [GRCh38]
Chr1:156830883 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.957C>T (p.Gly319=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000553898]|Inborn genetic diseases [RCV002384047] |
Chr1:156873739 [GRCh38]
Chr1:156843531 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-79G>A |
single nucleotide variant |
not provided [RCV001544633] |
Chr1:156871544 [GRCh38]
Chr1:156841336 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+1G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000539540] |
Chr1:156879363 [GRCh38]
Chr1:156849155 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1437C>T (p.Thr479=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001485137]|Inborn genetic diseases [RCV002395291]|not provided [RCV004568729] |
Chr1:156875602 [GRCh38]
Chr1:156845394 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.*6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000400460]|not provided [RCV000598277] |
Chr1:156881648 [GRCh38]
Chr1:156851440 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.*56C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000312439] |
Chr1:156881698 [GRCh38]
Chr1:156851490 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001085520]|Inborn genetic diseases [RCV002429232]|NTRK1-related disorder [RCV003967790]|not provided [RCV000346219] |
Chr1:156860944 [GRCh38]
Chr1:156830736 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2299G>C (p.Glu767Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000280018] |
Chr1:156881550 [GRCh38]
Chr1:156851342 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1196-9T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280004] |
Chr1:156874562 [GRCh38]
Chr1:156844354 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1521C>T (p.Arg507=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280006] |
Chr1:156876099 [GRCh38]
Chr1:156845891 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.520A>G (p.Lys174Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279997] |
Chr1:156868195 [GRCh38]
Chr1:156837987 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.956G>A (p.Gly319Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280000] |
Chr1:156873738 [GRCh38]
Chr1:156843530 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1569G>A (p.Lys523=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280008] |
Chr1:156876147 [GRCh38]
Chr1:156845939 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1177+69A>G |
single nucleotide variant |
not provided [RCV001571637] |
Chr1:156874028 [GRCh38]
Chr1:156843820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.435G>A (p.Leu145=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003774976]|not provided [RCV002292746] |
Chr1:156868110 [GRCh38]
Chr1:156837902 [GRCh37]
Chr1:1q23.1 |
likely benign |
| Single allele |
inversion |
Pediatric metastatic thyroid tumour [RCV000585807] |
Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1632+4A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000315568] |
Chr1:156876214 [GRCh38]
Chr1:156846006 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.*96G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000346300] |
Chr1:156881738 [GRCh38]
Chr1:156851530 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.295G>A (p.Val99Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000559579]|Inborn genetic diseases [RCV002438295]|not provided [RCV001532557] |
Chr1:156864735 [GRCh38]
Chr1:156834527 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2214C>T (p.Asp738=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099783] |
Chr1:156881465 [GRCh38]
Chr1:156851257 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099784] |
Chr1:156881499 [GRCh38]
Chr1:156851291 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.482G>A (p.Arg161His) |
single nucleotide variant |
Hereditary cancer [RCV003492037]|Hereditary insensitivity to pain with anhidrosis [RCV000547738]|not provided [RCV000431011] |
Chr1:156868157 [GRCh38]
Chr1:156837949 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003975.4(SH2D2A):c.123+181C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001537654]|X-linked lymphoproliferative disease due to SH2D1A deficiency [RCV003316543]|not provided [RCV004715157]|not specified [RCV000434139] |
Chr1:156815825 [GRCh38]
Chr1:156785617 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.-44C>T |
single nucleotide variant |
not specified [RCV000441510] |
Chr1:156860891 [GRCh38]
Chr1:156830683 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-6T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631339]|not specified [RCV000438099] |
Chr1:156879993 [GRCh38]
Chr1:156849785 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.*7G>T |
single nucleotide variant |
NTRK1-related disorder [RCV003972648]|not specified [RCV000438564] |
Chr1:156881649 [GRCh38]
Chr1:156851441 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1077C>T (p.Tyr359=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003338586]|Inborn genetic diseases [RCV002418269]|not specified [RCV000438879] |
Chr1:156873859 [GRCh38]
Chr1:156843651 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.531T>C (p.Cys177=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000893852]|Inborn genetic diseases [RCV002348230]|not specified [RCV000442776] |
Chr1:156868206 [GRCh38]
Chr1:156837998 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001459692]|not specified [RCV000421652] |
Chr1:156875016 [GRCh38]
Chr1:156844808 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001084241]|not provided [RCV000712456] |
Chr1:156881523 [GRCh38]
Chr1:156851315 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.428+12C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002060028]|not specified [RCV000428796] |
Chr1:156866990 [GRCh38]
Chr1:156836782 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+10G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631340]|not specified [RCV000429168] |
Chr1:156868259 [GRCh38]
Chr1:156838051 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+18A>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001803718]|not provided [RCV001703559] |
Chr1:156875026 [GRCh38]
Chr1:156844818 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.2067G>A (p.Leu689=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000538643]|Inborn genetic diseases [RCV002418277]|not specified [RCV000436264] |
Chr1:156880019 [GRCh38]
Chr1:156849811 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1908G>A (p.Ala636=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001080490]|not provided [RCV000524698] |
Chr1:156879224 [GRCh38]
Chr1:156849016 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.-39A>G |
single nucleotide variant |
not provided [RCV001718858] |
Chr1:156860896 [GRCh38]
Chr1:156830688 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001086612]|Inborn genetic diseases [RCV002411348]|NTRK1-related disorder [RCV003970169]|not provided [RCV000631344]|not specified [RCV000432784] |
Chr1:156873850 [GRCh38]
Chr1:156843642 [GRCh37]
Chr1:1q23.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.321G>T (p.Ala107=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001451570]|Inborn genetic diseases [RCV002446669]|not specified [RCV000432844] |
Chr1:156864761 [GRCh38]
Chr1:156834553 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.612G>A (p.Ser204=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631356]|Inborn genetic diseases [RCV002356568]|NTRK1-related disorder [RCV003932629]|not provided [RCV003409598]|not specified [RCV000422831] |
Chr1:156868542 [GRCh38]
Chr1:156838334 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.291C>T (p.Thr97=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003766354]|not specified [RCV000441138] |
Chr1:156864731 [GRCh38]
Chr1:156834523 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.630C>T (p.Asp210=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000551084]|Inborn genetic diseases [RCV002365473]|NTRK1-related disorder [RCV003922714]|not provided [RCV001703479] |
Chr1:156868560 [GRCh38]
Chr1:156838352 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.632T>A (p.Val211Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001828497]|not provided [RCV000484442] |
Chr1:156868562 [GRCh38]
Chr1:156838354 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789503]|Hereditary insensitivity to pain with anhidrosis [RCV000631332]|not provided [RCV000486476]|not specified [RCV003317235] |
Chr1:156875639 [GRCh38]
Chr1:156845431 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002529.4(NTRK1):c.787G>C (p.Val263Leu) |
single nucleotide variant |
not provided [RCV000494548] |
Chr1:156871692 [GRCh38]
Chr1:156841484 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.119_120insT (p.Cys41fs) |
insertion |
not provided [RCV000493283] |
Chr1:156861053..156861054 [GRCh38]
Chr1:156830845..156830846 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001248539]|Inborn genetic diseases [RCV004960657] |
Chr1:156868606 [GRCh38]
Chr1:156838398 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_014215.3(INSRR):c.1020G>A (p.Ala340=) |
single nucleotide variant |
not provided [RCV003312141] |
Chr1:156851710 [GRCh38]
Chr1:156821502 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.905C>A (p.Ala302Asp) |
single nucleotide variant |
not specified [RCV004313066] |
Chr1:156851924 [GRCh38]
Chr1:156821716 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631320]|Premature ovarian failure [RCV001270189]|not specified [RCV004525991] |
Chr1:156880071 [GRCh38]
Chr1:156849863 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2297G>A (p.Arg766Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631324] |
Chr1:156881548 [GRCh38]
Chr1:156851340 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.356G>A (p.Arg119His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631325]|Inborn genetic diseases [RCV002457994] |
Chr1:156864796 [GRCh38]
Chr1:156834588 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631318]|Inborn genetic diseases [RCV002404734] |
Chr1:156876545 [GRCh38]
Chr1:156846337 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1796G>A (p.Arg599His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631322]|Inborn genetic diseases [RCV002404735] |
Chr1:156876563 [GRCh38]
Chr1:156846355 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.239A>G (p.Gln80Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631333]|Inborn genetic diseases [RCV003380644] |
Chr1:156864380 [GRCh38]
Chr1:156834172 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2383C>G (p.Leu795Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631336] |
Chr1:156881634 [GRCh38]
Chr1:156851426 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631349]|Inborn genetic diseases [RCV002343202]|not provided [RCV003326479] |
Chr1:156868505 [GRCh38]
Chr1:156838297 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014215.3(INSRR):c.3028G>A (p.Val1010Met) |
single nucleotide variant |
not specified [RCV004301507] |
Chr1:156843102 [GRCh38]
Chr1:156812894 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.718-15T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001868066]|not specified [RCV000606662] |
Chr1:156871608 [GRCh38]
Chr1:156841400 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1039C>G (p.Arg347Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631327]|Inborn genetic diseases [RCV002388004] |
Chr1:156873821 [GRCh38]
Chr1:156843613 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.12C>T (p.Gly4=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631328] |
Chr1:156860946 [GRCh38]
Chr1:156830738 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1741G>A (p.Glu581Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631329]|Inborn genetic diseases [RCV002404736]|not provided [RCV001796146] |
Chr1:156876508 [GRCh38]
Chr1:156846300 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2085G>A (p.Pro695=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631341]|Inborn genetic diseases [RCV002420676] |
Chr1:156880037 [GRCh38]
Chr1:156849829 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.891C>T (p.His297=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631347]|Inborn genetic diseases [RCV002377354] |
Chr1:156873673 [GRCh38]
Chr1:156843465 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2086_2112del (p.Pro696_Phe704del) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000631319]|Inborn genetic diseases [RCV002420675] |
Chr1:156880038..156880064 [GRCh38]
Chr1:156849830..156849856 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.253C>T (p.Arg85Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631323]|Inborn genetic diseases [RCV002533179] |
Chr1:156864394 [GRCh38]
Chr1:156834186 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.926C>T (p.Pro309Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631330] |
Chr1:156873708 [GRCh38]
Chr1:156843500 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790288]|Hereditary insensitivity to pain with anhidrosis [RCV000631337]|Inborn genetic diseases [RCV002360506] |
Chr1:156868568 [GRCh38]
Chr1:156838360 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2265G>A (p.Glu755=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631342]|Inborn genetic diseases [RCV002431860] |
Chr1:156881516 [GRCh38]
Chr1:156851308 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2088C>T (p.Pro696=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631343]|Inborn genetic diseases [RCV002420677] |
Chr1:156880040 [GRCh38]
Chr1:156849832 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1161C>T (p.Pro387=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631350]|Inborn genetic diseases [RCV002358761] |
Chr1:156873943 [GRCh38]
Chr1:156843735 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3538G>C (p.Val1180Leu) |
single nucleotide variant |
not specified [RCV004299077] |
Chr1:156841518 [GRCh38]
Chr1:156811310 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2019G>A (p.Arg673=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631345]|Inborn genetic diseases [RCV002420678] |
Chr1:156879335 [GRCh38]
Chr1:156849127 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2206-11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002531895]|Inborn genetic diseases [RCV000624785] |
Chr1:156881446 [GRCh38]
Chr1:156851238 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.-28C>A |
single nucleotide variant |
not specified [RCV000609853] |
Chr1:156860907 [GRCh38]
Chr1:156830699 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.711G>A (p.Thr237=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631351]|Inborn genetic diseases [RCV002368096]|not provided [RCV001698032] |
Chr1:156868641 [GRCh38]
Chr1:156838433 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1557C>T (p.Gly519=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000951384]|Inborn genetic diseases [RCV002404682]|not provided [RCV001719038] |
Chr1:156876135 [GRCh38]
Chr1:156845927 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1257G>A (p.Ser419=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000870873]|Inborn genetic diseases [RCV002377323]|not specified [RCV000608351] |
Chr1:156874911 [GRCh38]
Chr1:156844703 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002531896]|Inborn genetic diseases [RCV000622925]|not specified [RCV002248821] |
Chr1:156868246 [GRCh38]
Chr1:156838038 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.279G>A (p.Leu93=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631348]|Inborn genetic diseases [RCV002438596]|not provided [RCV001310876]|not specified [RCV000601111] |
Chr1:156864420 [GRCh38]
Chr1:156834212 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_014215.3(INSRR):c.1786G>A (p.Val596Ile) |
single nucleotide variant |
not provided [RCV003410317]|not specified [RCV004288621] |
Chr1:156846543 [GRCh38]
Chr1:156816335 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.941G>A (p.Arg314His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631321]|Inborn genetic diseases [RCV002377352]|not provided [RCV001509070] |
Chr1:156873723 [GRCh38]
Chr1:156843515 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.875C>T (p.Thr292Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631326]|Inborn genetic diseases [RCV002377353]|NTRK1-related disorder [RCV003411494] |
Chr1:156873657 [GRCh38]
Chr1:156843449 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1525G>A (p.Asp509Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631331] |
Chr1:156876103 [GRCh38]
Chr1:156845895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631334]|Inborn genetic diseases [RCV002360505]|not provided [RCV004791642] |
Chr1:156868570 [GRCh38]
Chr1:156838362 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.140G>C (p.Gly47Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631335] |
Chr1:156861074 [GRCh38]
Chr1:156830866 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1522C>T (p.Arg508Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631338]|Inborn genetic diseases [RCV002388005]|not specified [RCV005418256] |
Chr1:156876100 [GRCh38]
Chr1:156845892 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.549G>T (p.Leu183=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631346]|Inborn genetic diseases [RCV002343201]|not provided [RCV001550544] |
Chr1:156868224 [GRCh38]
Chr1:156838016 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2142C>T (p.Gly714=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000631354]|Inborn genetic diseases [RCV002420679] |
Chr1:156880094 [GRCh38]
Chr1:156849886 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000685871]|Inborn genetic diseases [RCV002406534]|not provided [RCV003884703] |
Chr1:156879255 [GRCh38]
Chr1:156849047 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_001007792.1(NTRK1):c.24C>A (p.Cys8Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000670814] |
Chr1:156842095 [GRCh38]
Chr1:156811887 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000674105]|Inborn genetic diseases [RCV002442399] |
Chr1:156881532 [GRCh38]
Chr1:156851324 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1196-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000668622] |
Chr1:156874570 [GRCh38]
Chr1:156844362 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV000667282]|Inborn genetic diseases [RCV002388177]|not specified [RCV005240424] |
Chr1:156875592..156875593 [GRCh38]
Chr1:156845384..156845385 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.33C>A (p.Pro11=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000667449] |
Chr1:156842104 [GRCh38]
Chr1:156811896 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.628G>T (p.Asp210Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000698583] |
Chr1:156868558 [GRCh38]
Chr1:156838350 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1310_1313dup (p.Leu439fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV000701106] |
Chr1:156874963..156874964 [GRCh38]
Chr1:156844755..156844756 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.662G>T (p.Gly221Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000686886]|Inborn genetic diseases [RCV004639321] |
Chr1:156868592 [GRCh38]
Chr1:156838384 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 |
copy number loss |
not provided [RCV000684658] |
Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1 |
pathogenic |
| GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3 |
copy number gain |
not provided [RCV000684659] |
Chr1:155999570..156844432 [GRCh37]
Chr1:1q22-23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002534507]|not provided [RCV000712452] |
Chr1:156873819 [GRCh38]
Chr1:156843611 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2141G>A (p.Gly714Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003444655]|not provided [RCV000712455] |
Chr1:156880093 [GRCh38]
Chr1:156849885 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1659del (p.Arg554fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000703050] |
Chr1:156876426 [GRCh38]
Chr1:156846218 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000701019]|Inborn genetic diseases [RCV002386243] |
Chr1:156875524 [GRCh38]
Chr1:156845316 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2362C>T (p.Pro788Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000686942] |
Chr1:156881613 [GRCh38]
Chr1:156851405 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1390A>T (p.Met464Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000686944] |
Chr1:156875555 [GRCh38]
Chr1:156845347 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986435] |
Chr1:156842103 [GRCh38]
Chr1:156811895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.37del (p.Val13fs) |
deletion |
Familial medullary thyroid carcinoma [RCV000708802] |
Chr1:156842108 [GRCh38]
Chr1:156811900 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.119C>A (p.Ala40Glu) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708803]|not provided [RCV001726315] |
Chr1:156842190 [GRCh38]
Chr1:156811982 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789505]|Hereditary insensitivity to pain with anhidrosis [RCV000986439]|Inborn genetic diseases [RCV002424729]|not specified [RCV001585661] |
Chr1:156864394 [GRCh38]
Chr1:156834186 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708807]|Hereditary insensitivity to pain with anhidrosis [RCV000804531] |
Chr1:156864795 [GRCh38]
Chr1:156834587 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708808]|Hereditary insensitivity to pain with anhidrosis [RCV001372807] |
Chr1:156866972 [GRCh38]
Chr1:156836764 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708817]|Hereditary insensitivity to pain with anhidrosis [RCV001280005] |
Chr1:156875546 [GRCh38]
Chr1:156845338 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708818]|Hereditary insensitivity to pain with anhidrosis [RCV002532886] |
Chr1:156875628 [GRCh38]
Chr1:156845420 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708819]|Hereditary insensitivity to pain with anhidrosis [RCV001280007]|Inborn genetic diseases [RCV002388349] |
Chr1:156876103 [GRCh38]
Chr1:156845895 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708822]|Hereditary insensitivity to pain with anhidrosis [RCV000764986]|Hereditary insensitivity to pain with anhidrosis [RCV003344020]|Inborn genetic diseases [RCV004026759] |
Chr1:156880057 [GRCh38]
Chr1:156849849 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.341C>G (p.Thr114Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000794836] |
Chr1:156864781 [GRCh38]
Chr1:156834573 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1738A>T (p.Thr580Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000704949] |
Chr1:156876505 [GRCh38]
Chr1:156846297 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.844G>A (p.Val282Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000693690]|Inborn genetic diseases [RCV003380683] |
Chr1:156871749 [GRCh38]
Chr1:156841541 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000691300] |
Chr1:156879331 [GRCh38]
Chr1:156849123 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2143G>A (p.Val715Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000691409]|not specified [RCV005418305] |
Chr1:156880095 [GRCh38]
Chr1:156849887 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1196-3_1196-1del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000703158] |
Chr1:156874568..156874570 [GRCh38]
Chr1:156844360..156844362 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.236T>A (p.Leu79Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000697712]|Inborn genetic diseases [RCV002458262]|not provided [RCV004721560] |
Chr1:156864377 [GRCh38]
Chr1:156834169 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2335_2362del (p.Ala779fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000703425] |
Chr1:156881582..156881609 [GRCh38]
Chr1:156851374..156851401 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.320C>T (p.Ala107Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000700542]|Inborn genetic diseases [RCV002442497] |
Chr1:156864760 [GRCh38]
Chr1:156834552 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1301C>T (p.Thr434Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000689778]|Inborn genetic diseases [RCV002386184] |
Chr1:156874955 [GRCh38]
Chr1:156844747 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_001012331.1(NTRK1):c.2028+3A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000706507] |
Chr1:156879365 [GRCh38]
Chr1:156849157 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_001007792.1(NTRK1):c.10-562dup |
duplication |
Familial medullary thyroid carcinoma [RCV000708800]|not provided [RCV004691291] |
Chr1:156841518..156841519 [GRCh38]
Chr1:156811310..156811311 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.584C>T (p.Thr195Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000796733]|Inborn genetic diseases [RCV002352226] |
Chr1:156868514 [GRCh38]
Chr1:156838306 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) |
single nucleotide variant |
Familial medullary thyroid carcinoma [RCV000708812]|Hereditary insensitivity to pain with anhidrosis [RCV001279999]|not provided [RCV001553054] |
Chr1:156871747 [GRCh38]
Chr1:156841539 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1120A>G (p.Ile374Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986441] |
Chr1:156873902 [GRCh38]
Chr1:156843694 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.202C>G (p.Leu68Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000701815] |
Chr1:156861136 [GRCh38]
Chr1:156830928 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1517A>G (p.Lys506Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000689999] |
Chr1:156876095 [GRCh38]
Chr1:156845887 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1114G>A (p.Ala372Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000687922] |
Chr1:156873896 [GRCh38]
Chr1:156843688 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000695151]|Inborn genetic diseases [RCV002406595]|not provided [RCV001756200] |
Chr1:156861119 [GRCh38]
Chr1:156830911 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1795C>T (p.Arg599Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000695386]|Inborn genetic diseases [RCV003258932] |
Chr1:156876562 [GRCh38]
Chr1:156846354 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.424G>T (p.Glu142Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000691155] |
Chr1:156866974 [GRCh38]
Chr1:156836766 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.682A>G (p.Ile228Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000696438] |
Chr1:156868612 [GRCh38]
Chr1:156838404 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1826A>G (p.Lys609Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000699603] |
Chr1:156879142 [GRCh38]
Chr1:156848934 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000700548]|Inborn genetic diseases [RCV004026517]|not provided [RCV002263945] |
Chr1:156868589 [GRCh38]
Chr1:156838381 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1986GGT[3] (p.Val664dup) |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV000706156] |
Chr1:156879300..156879301 [GRCh38]
Chr1:156849092..156849093 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1720C>T (p.Arg574Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000703649] |
Chr1:156876487 [GRCh38]
Chr1:156846279 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| LMNA-NTRK1 fusion |
fusion |
Congenital fibrosarcoma [RCV000754610] |
Chr1:156100565..156844697 [GRCh37]
Chr1:1q22-23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2046+170C>T |
single nucleotide variant |
not provided [RCV001540670] |
Chr1:156879532 [GRCh38]
Chr1:156849324 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.453C>T (p.His151=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000871365] |
Chr1:156868128 [GRCh38]
Chr1:156837920 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_001007792.1(NTRK1):c.10-67C>G |
single nucleotide variant |
not provided [RCV001585503] |
Chr1:156842014 [GRCh38]
Chr1:156811806 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003975.4(SH2D2A):c.84C>T (p.Asp28=) |
single nucleotide variant |
not provided [RCV001532551] |
Chr1:156816045 [GRCh38]
Chr1:156785837 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3265T>C (p.Leu1089=) |
single nucleotide variant |
not provided [RCV001532552] |
Chr1:156842244 [GRCh38]
Chr1:156812036 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002538629]|not provided [RCV001700866] |
Chr1:156876572 [GRCh38]
Chr1:156846364 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.850+323C>T |
single nucleotide variant |
not provided [RCV001534560] |
Chr1:156872078 [GRCh38]
Chr1:156841870 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1779G>A (p.Arg593=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002065899] |
Chr1:156876546 [GRCh38]
Chr1:156846338 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001580750] |
Chr1:156880121 [GRCh38]
Chr1:156849913 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2383C>T (p.Leu795=) |
single nucleotide variant |
not provided [RCV000917841] |
Chr1:156881634 [GRCh38]
Chr1:156851426 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_001007792.1(NTRK1):c.9+133del |
deletion |
not provided [RCV001610834] |
Chr1:156815971 [GRCh38]
Chr1:156785763 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789608]|Hereditary insensitivity to pain with anhidrosis [RCV001222355]|not provided [RCV000760429] |
Chr1:156876571 [GRCh38]
Chr1:156846363 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1858G>T (p.Gly620Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001068171] |
Chr1:156879174 [GRCh38]
Chr1:156848966 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.123-3611G>T |
single nucleotide variant |
not provided [RCV001577036] |
Chr1:156860743 [GRCh38]
Chr1:156830535 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1919A>G (p.Tyr640Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001065765] |
Chr1:156879235 [GRCh38]
Chr1:156849027 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.428+197A>G |
single nucleotide variant |
not provided [RCV001612041] |
Chr1:156867175 [GRCh38]
Chr1:156836967 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_001007792.1(NTRK1):c.122+160G>C |
single nucleotide variant |
not provided [RCV001547631] |
Chr1:156842353 [GRCh38]
Chr1:156812145 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001030785] |
Chr1:156880122 [GRCh38]
Chr1:156849914 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1039C>T (p.Arg347Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001045495] |
Chr1:156873821 [GRCh38]
Chr1:156843613 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.468G>C (p.Leu156=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001096153] |
Chr1:156868143 [GRCh38]
Chr1:156837935 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1354+179A>C |
single nucleotide variant |
not provided [RCV001549619] |
Chr1:156875187 [GRCh38]
Chr1:156844979 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1281C>G (p.Ser427=) |
single nucleotide variant |
not provided [RCV000905951] |
Chr1:156849409 [GRCh38]
Chr1:156819201 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1101C>T (p.Phe367=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000951041]|not provided [RCV003411911] |
Chr1:156873883 [GRCh38]
Chr1:156843675 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.618T>C (p.Asp206=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001429239] |
Chr1:156868548 [GRCh38]
Chr1:156838340 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1697T>C (p.Met566Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877342]|NTRK1-related disorder [RCV003948255] |
Chr1:156876464 [GRCh38]
Chr1:156846256 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_014215.3(INSRR):c.3513C>T (p.Thr1171=) |
single nucleotide variant |
not provided [RCV000902371] |
Chr1:156841679 [GRCh38]
Chr1:156811471 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.306T>A (p.Gly102=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001418464] |
Chr1:156864746 [GRCh38]
Chr1:156834538 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.711G>C (p.Thr237=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001408339] |
Chr1:156868641 [GRCh38]
Chr1:156838433 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-8C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001446227] |
Chr1:156874898 [GRCh38]
Chr1:156844690 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2382C>T (p.Val794=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001488969] |
Chr1:156881633 [GRCh38]
Chr1:156851425 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1020C>T (p.Thr340=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000941883] |
Chr1:156873802 [GRCh38]
Chr1:156843594 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1143C>T (p.Asn381=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001425269] |
Chr1:156873925 [GRCh38]
Chr1:156843717 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1902C>T (p.Val634=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000882133] |
Chr1:156879218 [GRCh38]
Chr1:156849010 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.501G>A (p.Leu167=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000944172] |
Chr1:156868176 [GRCh38]
Chr1:156837968 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000925123] |
Chr1:156864346 [GRCh38]
Chr1:156834138 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1113C>T (p.Ser371=) |
single nucleotide variant |
not provided [RCV000883961] |
Chr1:156851406 [GRCh38]
Chr1:156821198 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1650C>G (p.Ser550=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000921768] |
Chr1:156876417 [GRCh38]
Chr1:156846209 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1752C>G (p.Pro584=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001396311] |
Chr1:156876519 [GRCh38]
Chr1:156846311 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1734C>G (p.Val578=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001276832] |
Chr1:156876501 [GRCh38]
Chr1:156846293 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.219C>T (p.Ile73=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876073]|Inborn genetic diseases [RCV002539999] |
Chr1:156864360 [GRCh38]
Chr1:156834152 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1481C>A (p.Pro494Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001071155] |
Chr1:156875646 [GRCh38]
Chr1:156845438 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.867G>C (p.Gln289His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001041765]|Inborn genetic diseases [RCV002445233] |
Chr1:156873649 [GRCh38]
Chr1:156843441 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.453C>G (p.His151Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001061901]|Inborn genetic diseases [RCV002339303] |
Chr1:156868128 [GRCh38]
Chr1:156837920 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.478C>T (p.Gln160Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001059110] |
Chr1:156868153 [GRCh38]
Chr1:156837945 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.850+127G>A |
single nucleotide variant |
not provided [RCV000826515] |
Chr1:156871882 [GRCh38]
Chr1:156841674 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000792399]|Inborn genetic diseases [RCV002343645] |
Chr1:156874595 [GRCh38]
Chr1:156844387 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1555G>C (p.Gly519Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789506] |
Chr1:156876133 [GRCh38]
Chr1:156845925 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789507]|Hereditary insensitivity to pain with anhidrosis [RCV002535803] |
Chr1:156881559 [GRCh38]
Chr1:156851351 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1690C>T (p.Leu564Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789664] |
Chr1:156876457 [GRCh38]
Chr1:156846249 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.543del (p.Leu183fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790137]|Hereditary insensitivity to pain with anhidrosis [RCV000807150] |
Chr1:156868216 [GRCh38]
Chr1:156838008 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.359+5G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790138]|not provided [RCV001701318] |
Chr1:156864804 [GRCh38]
Chr1:156834596 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2344C>T (p.Gln782Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790139] |
Chr1:156881595 [GRCh38]
Chr1:156851387 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2289C>G (p.Cys763Trp) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790287] |
Chr1:156881540 [GRCh38]
Chr1:156851332 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.602C>A (p.Pro201His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000810037]|Inborn genetic diseases [RCV002352400] |
Chr1:156868532 [GRCh38]
Chr1:156838324 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1502-5dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001481376] |
Chr1:156876070..156876071 [GRCh38]
Chr1:156845862..156845863 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.611C>T (p.Ser204Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000861525]|Inborn genetic diseases [RCV002352504] |
Chr1:156868541 [GRCh38]
Chr1:156838333 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1029C>T (p.His343=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876570]|NTRK1-related disorder [RCV003895377] |
Chr1:156873811 [GRCh38]
Chr1:156843603 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877061] |
Chr1:156879991 [GRCh38]
Chr1:156849783 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.2205+9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000902776] |
Chr1:156880166 [GRCh38]
Chr1:156849958 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.954T>C (p.Asn318=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000872536] |
Chr1:156873736 [GRCh38]
Chr1:156843528 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.357C>T (p.Arg119=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876787] |
Chr1:156864797 [GRCh38]
Chr1:156834589 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.360-9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000920652] |
Chr1:156866901 [GRCh38]
Chr1:156836693 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.504C>A (p.Gly168=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001452995] |
Chr1:156868179 [GRCh38]
Chr1:156837971 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.900C>T (p.Cys300=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000937081] |
Chr1:156873682 [GRCh38]
Chr1:156843474 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1803C>G (p.Leu601=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000874023]|not provided [RCV001580553] |
Chr1:156876570 [GRCh38]
Chr1:156846362 [GRCh37]
Chr1:1q23.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_014215.3(INSRR):c.775C>T (p.Leu259=) |
single nucleotide variant |
not provided [RCV000896316] |
Chr1:156852054 [GRCh38]
Chr1:156821846 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1190C>T (p.Pro397Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877121] |
Chr1:156874395 [GRCh38]
Chr1:156844187 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.846C>G (p.Val282=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001493133] |
Chr1:156871751 [GRCh38]
Chr1:156841543 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805+8C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000938935] |
Chr1:156876580 [GRCh38]
Chr1:156846372 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000875061] |
Chr1:156871729 [GRCh38]
Chr1:156841521 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.639G>T (p.Leu213=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001451265] |
Chr1:156868569 [GRCh38]
Chr1:156838361 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001443051] |
Chr1:156868258 [GRCh38]
Chr1:156838050 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1189C>A (p.Pro397Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001439919]|Inborn genetic diseases [RCV002542088] |
Chr1:156874394 [GRCh38]
Chr1:156844186 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1080G>T (p.Thr360=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000978066] |
Chr1:156873862 [GRCh38]
Chr1:156843654 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.930A>T (p.Ala310=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000941471] |
Chr1:156873712 [GRCh38]
Chr1:156843504 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.504C>T (p.Gly168=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000966535] |
Chr1:156868179 [GRCh38]
Chr1:156837971 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1098C>T (p.Pro366=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000927507] |
Chr1:156873880 [GRCh38]
Chr1:156843672 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1638G>C (p.Leu546=) |
single nucleotide variant |
not provided [RCV000917937] |
Chr1:156876405 [GRCh38]
Chr1:156846197 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1473C>T (p.Ile491=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000877948]|NTRK1-related disorder [RCV003955766] |
Chr1:156875638 [GRCh38]
Chr1:156845430 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1344T>C (p.Phe448=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000939428] |
Chr1:156874998 [GRCh38]
Chr1:156844790 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1031_1043del (p.Gly344fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000804439] |
Chr1:156873813..156873825 [GRCh38]
Chr1:156843605..156843617 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2164A>G (p.Thr722Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000822686] |
Chr1:156880116 [GRCh38]
Chr1:156849908 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.396G>A (p.Trp132Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000813929] |
Chr1:156866946 [GRCh38]
Chr1:156836738 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1354C>G (p.Arg452Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000804631]|Inborn genetic diseases [RCV002381765]|NTRK1-related disorder [RCV004753046] |
Chr1:156875008 [GRCh38]
Chr1:156844800 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1093A>C (p.Asn365His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000796945] |
Chr1:156873875 [GRCh38]
Chr1:156843667 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.717+86G>C |
single nucleotide variant |
not provided [RCV000837808] |
Chr1:156868733 [GRCh38]
Chr1:156838525 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986437]|not provided [RCV003411926] |
Chr1:156846669 [GRCh38]
Chr1:156816461 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1004C>T (p.Pro335Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000819540]|Inborn genetic diseases [RCV002535509] |
Chr1:156873786 [GRCh38]
Chr1:156843578 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.10-1075A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986434] |
Chr1:156841006 [GRCh38]
Chr1:156810798 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2201C>T (p.Thr734Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000803716] |
Chr1:156880153 [GRCh38]
Chr1:156849945 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2205+9C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001488926] |
Chr1:156880166 [GRCh38]
Chr1:156849958 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2335G>A (p.Ala779Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818553] |
Chr1:156881586 [GRCh38]
Chr1:156851378 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2205+155G>C |
single nucleotide variant |
not provided [RCV000826537] |
Chr1:156880312 [GRCh38]
Chr1:156850104 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.157G>A (p.Asp53Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818627] |
Chr1:156861091 [GRCh38]
Chr1:156830883 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.321G>A (p.Ala107=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000938016] |
Chr1:156864761 [GRCh38]
Chr1:156834553 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-156A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001532840]|not provided [RCV000826513] |
Chr1:156871467 [GRCh38]
Chr1:156841259 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.213-233A>G |
single nucleotide variant |
not provided [RCV000837149] |
Chr1:156864121 [GRCh38]
Chr1:156833913 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.830C>G (p.Ser277Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000793367] |
Chr1:156871735 [GRCh38]
Chr1:156841527 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789609]|Hereditary insensitivity to pain with anhidrosis [RCV001381359] |
Chr1:156879276 [GRCh38]
Chr1:156849068 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.429-1G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789673]|Hereditary insensitivity to pain with anhidrosis [RCV001329488]|PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 [RCV004798874] |
Chr1:156868103 [GRCh38]
Chr1:156837895 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789685]|Hereditary insensitivity to pain with anhidrosis [RCV000820283] |
Chr1:156881554 [GRCh38]
Chr1:156851346 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1162G>A (p.Glu388Lys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789686] |
Chr1:156873944 [GRCh38]
Chr1:156843736 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.722dup (p.Gly242fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000790260] |
Chr1:156871626..156871627 [GRCh38]
Chr1:156841418..156841419 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.924_930del (p.Gln308fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000790289]|Hereditary insensitivity to pain with anhidrosis [RCV001382531] |
Chr1:156873702..156873708 [GRCh38]
Chr1:156843494..156843500 [GRCh37]
Chr1:1q23.1 |
pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.717+1G>C |
single nucleotide variant |
Hereditary sensory and autonomic neuropathy [RCV000790290] |
Chr1:156868648 [GRCh38]
Chr1:156838440 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2162T>C (p.Phe721Ser) |
single nucleotide variant |
Hereditary sensory and autonomic neuropathy [RCV000790291] |
Chr1:156880114 [GRCh38]
Chr1:156849906 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000816391]|Inborn genetic diseases [RCV002345871] |
Chr1:156868213 [GRCh38]
Chr1:156838005 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.88T>C (p.Ser30Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000822952]|Inborn genetic diseases [RCV003279115] |
Chr1:156861022 [GRCh38]
Chr1:156830814 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.574+1G>A |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789502]|Hereditary insensitivity to pain with anhidrosis [RCV001218483] |
Chr1:156868250 [GRCh38]
Chr1:156838042 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely benign |
| NM_002529.4(NTRK1):c.1754del (p.Leu585fs) |
deletion |
Charcot-Marie-Tooth disease [RCV000789607]|Hereditary insensitivity to pain with anhidrosis [RCV001580545] |
Chr1:156876521 [GRCh38]
Chr1:156846313 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2328dup (p.Val777fs) |
duplication |
Charcot-Marie-Tooth disease [RCV000789610] |
Chr1:156881578..156881579 [GRCh38]
Chr1:156851370..156851371 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1733T>G (p.Val578Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789625] |
Chr1:156876500 [GRCh38]
Chr1:156846292 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1895_1896insA (p.Ser632fs) |
insertion |
Charcot-Marie-Tooth disease [RCV000789626] |
Chr1:156879211..156879212 [GRCh38]
Chr1:156849003..156849004 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.496G>T (p.Gly166Ter) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789509] |
Chr1:156868171 [GRCh38]
Chr1:156837963 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1867G>T (p.Gly623Cys) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789674]|Hereditary insensitivity to pain with anhidrosis [RCV001856239] |
Chr1:156879183 [GRCh38]
Chr1:156848975 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1633-1G>T |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000790136]|Hereditary insensitivity to pain with anhidrosis [RCV002267625] |
Chr1:156876399 [GRCh38]
Chr1:156846191 [GRCh37]
Chr1:1q23.1 |
uncertain significance|not provided |
| NM_002529.4(NTRK1):c.574+100T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001532839]|not provided [RCV000826510] |
Chr1:156868349 [GRCh38]
Chr1:156838141 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1806-106T>C |
single nucleotide variant |
not provided [RCV000826536] |
Chr1:156879016 [GRCh38]
Chr1:156848808 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_001007792.1(NTRK1):c.9+149G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001537656]|not provided [RCV000826540] |
Chr1:156815987 [GRCh38]
Chr1:156785779 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.590A>C (p.Lys197Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000808495] |
Chr1:156868520 [GRCh38]
Chr1:156838312 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1256C>T (p.Ser419Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818291] |
Chr1:156874910 [GRCh38]
Chr1:156844702 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.905C>T (p.Pro302Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000805196] |
Chr1:156873687 [GRCh38]
Chr1:156843479 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1925C>T (p.Ala642Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000815142]|not provided [RCV002067399] |
Chr1:156879241 [GRCh38]
Chr1:156849033 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000795187]|Inborn genetic diseases [RCV002360920] |
Chr1:156874612 [GRCh38]
Chr1:156844404 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.605A>G (p.Asn202Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000795240] |
Chr1:156868535 [GRCh38]
Chr1:156838327 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.623G>A (p.Gly208Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000812174]|Inborn genetic diseases [RCV002537368] |
Chr1:156868553 [GRCh38]
Chr1:156838345 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1748G>A (p.Arg583His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001045883]|not provided [RCV001772247] |
Chr1:156876515 [GRCh38]
Chr1:156846307 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001012331.1(NTRK1):c.-45371T>C |
single nucleotide variant |
not provided [RCV000826508] |
Chr1:156815564 [GRCh38]
Chr1:156785356 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1806-120C>T |
single nucleotide variant |
not provided [RCV000826535] |
Chr1:156879002 [GRCh38]
Chr1:156848794 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2205+163T>G |
single nucleotide variant |
not provided [RCV000826538] |
Chr1:156880320 [GRCh38]
Chr1:156850112 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.148T>C (p.Cys50Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001044138] |
Chr1:156861082 [GRCh38]
Chr1:156830874 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.354_359+3del |
deletion |
Charcot-Marie-Tooth disease [RCV000789508]|Hereditary insensitivity to pain with anhidrosis [RCV000809119] |
Chr1:156864793..156864801 [GRCh38]
Chr1:156834585..156834593 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1564G>A (p.Gly522Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789606] |
Chr1:156876142 [GRCh38]
Chr1:156845934 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2068C>T (p.Pro690Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000818247] |
Chr1:156880020 [GRCh38]
Chr1:156849812 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1025G>A (p.Arg342Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000821975] |
Chr1:156873807 [GRCh38]
Chr1:156843599 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.878C>T (p.Ala293Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000802414]|Inborn genetic diseases [RCV002370122]|not provided [RCV001662832] |
Chr1:156873660 [GRCh38]
Chr1:156843452 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2070C>G (p.Pro690=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000977942] |
Chr1:156880022 [GRCh38]
Chr1:156849814 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.259C>T (p.Arg87Cys) |
single nucleotide variant |
not provided [RCV000917574] |
Chr1:156854130 [GRCh38]
Chr1:156823922 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.302G>A (p.Ser101Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000813055]|not provided [RCV004792513] |
Chr1:156864742 [GRCh38]
Chr1:156834534 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1987G>A (p.Val663Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000799315] |
Chr1:156879303 [GRCh38]
Chr1:156849095 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2324A>G (p.Lys775Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000807666] |
Chr1:156881575 [GRCh38]
Chr1:156851367 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs) |
insertion |
Charcot-Marie-Tooth disease [RCV000789624] |
Chr1:156876126..156876127 [GRCh38]
Chr1:156845918..156845919 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1946G>T (p.Arg649Leu) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789672] |
Chr1:156879262 [GRCh38]
Chr1:156849054 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.344C>G (p.Pro115Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000794624] |
Chr1:156864784 [GRCh38]
Chr1:156834576 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.9+141A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001537655]|not provided [RCV000826539] |
Chr1:156815979 [GRCh38]
Chr1:156785771 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000797003]|Inborn genetic diseases [RCV002397594]|not provided [RCV000992455]|not specified [RCV001002592] |
Chr1:156876514 [GRCh38]
Chr1:156846306 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1926G>A (p.Ala642=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000820108] |
Chr1:156879242 [GRCh38]
Chr1:156849034 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NC_000001.11:g.156868505del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV000803508] |
Chr1:156868504 [GRCh38]
Chr1:156838296 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2206-208T>G |
single nucleotide variant |
not provided [RCV000829711] |
Chr1:156881249 [GRCh38]
Chr1:156851041 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.316G>A (p.Val106Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000811617]|Inborn genetic diseases [RCV003353045] |
Chr1:156864756 [GRCh38]
Chr1:156834548 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.988A>G (p.Thr330Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000811829] |
Chr1:156873770 [GRCh38]
Chr1:156843562 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.117C>T (p.Ala39=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000875427]|not provided [RCV001726358]|not specified [RCV001700483] |
Chr1:156861051 [GRCh38]
Chr1:156830843 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.152C>T (p.Thr51Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000795581] |
Chr1:156861086 [GRCh38]
Chr1:156830878 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1125G>A (p.Met375Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000814527] |
Chr1:156873907 [GRCh38]
Chr1:156843699 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000823933]|Inborn genetic diseases [RCV005372463]|not provided [RCV002307632] |
Chr1:156871713 [GRCh38]
Chr1:156841505 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2223G>A (p.Thr741=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001501013] |
Chr1:156881474 [GRCh38]
Chr1:156851266 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+35GT[12] |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV000986442] |
Chr1:156875701..156875712 [GRCh38]
Chr1:156845493..156845504 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.131G>A (p.Gly44Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001046695] |
Chr1:156861065 [GRCh38]
Chr1:156830857 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.575-15G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001096154] |
Chr1:156868490 [GRCh38]
Chr1:156838282 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1717G>A (p.Val573Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001096256]|not provided [RCV001772315] |
Chr1:156876484 [GRCh38]
Chr1:156846276 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.850+11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099692] |
Chr1:156871766 [GRCh38]
Chr1:156841558 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001097898]|not provided [RCV004597959] |
Chr1:156868558 [GRCh38]
Chr1:156838350 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1917G>A (p.Val639=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001098002] |
Chr1:156879233 [GRCh38]
Chr1:156849025 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.2205+13C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099782] |
Chr1:156880170 [GRCh38]
Chr1:156849962 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.879G>A (p.Ala293=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001488896] |
Chr1:156873661 [GRCh38]
Chr1:156843453 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1086G>A (p.Leu362=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001446235] |
Chr1:156873868 [GRCh38]
Chr1:156843660 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2275del (p.Ile759fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001907519] |
Chr1:156881526 [GRCh38]
Chr1:156851318 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.193G>A (p.Ala65Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001065951] |
Chr1:156861127 [GRCh38]
Chr1:156830919 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.607G>A (p.Ala203Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001246425] |
Chr1:156868537 [GRCh38]
Chr1:156838329 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1418G>C (p.Gly473Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001211861] |
Chr1:156875583 [GRCh38]
Chr1:156845375 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1302G>A (p.Thr434=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001498834]|NTRK1-related disorder [RCV003945899]|not provided [RCV001171766] |
Chr1:156874956 [GRCh38]
Chr1:156844748 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2230C>A (p.Arg744Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001046195] |
Chr1:156881481 [GRCh38]
Chr1:156851273 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2047-91A>G |
single nucleotide variant |
not provided [RCV001544600] |
Chr1:156879908 [GRCh38]
Chr1:156849700 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1617G>A (p.Met539Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001065138]|Inborn genetic diseases [RCV004960417] |
Chr1:156876195 [GRCh38]
Chr1:156845987 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001197778] |
Chr1:156860935 [GRCh38]
Chr1:156830727 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.581C>T (p.Pro194Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001229933] |
Chr1:156868511 [GRCh38]
Chr1:156838303 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.377C>T (p.Ala126Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001222387] |
Chr1:156866927 [GRCh38]
Chr1:156836719 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.197A>G (p.Glu66Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001237055] |
Chr1:156861131 [GRCh38]
Chr1:156830923 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.437C>T (p.Ser146Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001239196]|Inborn genetic diseases [RCV004034601]|not specified [RCV005236716] |
Chr1:156868112 [GRCh38]
Chr1:156837904 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.401C>A (p.Thr134Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001240413] |
Chr1:156866951 [GRCh38]
Chr1:156836743 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.244C>A (p.Leu82Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001214131] |
Chr1:156864385 [GRCh38]
Chr1:156834177 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1739C>G (p.Thr580Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001239127]|Inborn genetic diseases [RCV002411882] |
Chr1:156876506 [GRCh38]
Chr1:156846298 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1102G>A (p.Gly368Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001220666] |
Chr1:156873884 [GRCh38]
Chr1:156843676 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.838G>T (p.Val280Phe) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001240102] |
Chr1:156871743 [GRCh38]
Chr1:156841535 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001243110]|not provided [RCV004793346] |
Chr1:156871723 [GRCh38]
Chr1:156841515 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.32G>C (p.Gly11Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001209950] |
Chr1:156860966 [GRCh38]
Chr1:156830758 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.22G>A (p.Gly8Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001239738] |
Chr1:156860956 [GRCh38]
Chr1:156830748 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1611C>G (p.Asp537Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001214788] |
Chr1:156876189 [GRCh38]
Chr1:156845981 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.742G>A (p.Gly248Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001240950] |
Chr1:156871647 [GRCh38]
Chr1:156841439 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001246469]|Inborn genetic diseases [RCV002451602] |
Chr1:156881589 [GRCh38]
Chr1:156851381 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1661G>T (p.Arg554Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001247655] |
Chr1:156876428 [GRCh38]
Chr1:156846220 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.305G>A (p.Gly102Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001219275] |
Chr1:156864745 [GRCh38]
Chr1:156834537 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.285C>T (p.Arg95=) |
single nucleotide variant |
not provided [RCV003222640] |
Chr1:156854104 [GRCh38]
Chr1:156823896 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1652del (p.Glu551fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV004776501] |
Chr1:156876419 [GRCh38]
Chr1:156846211 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.223C>T (p.Arg75Cys) |
single nucleotide variant |
not specified [RCV004284545] |
Chr1:156854166 [GRCh38]
Chr1:156823958 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354+1G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001212380] |
Chr1:156875009 [GRCh38]
Chr1:156844801 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1448G>A (p.Gly483Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101682] |
Chr1:156875613 [GRCh38]
Chr1:156845405 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101771]|Inborn genetic diseases [RCV002445383] |
Chr1:156881622 [GRCh38]
Chr1:156851414 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1252-6C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101681]|Inborn genetic diseases [RCV003363109] |
Chr1:156874900 [GRCh38]
Chr1:156844692 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.287+2dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001065272] |
Chr1:156864429..156864430 [GRCh38]
Chr1:156834221..156834222 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2035G>C (p.Asp679His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001098003] |
Chr1:156879351 [GRCh38]
Chr1:156849143 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.212+5G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003106521] |
Chr1:156861151 [GRCh38]
Chr1:156830943 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3397+23G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003120119] |
Chr1:156842089 [GRCh38]
Chr1:156811881 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+32C>G |
single nucleotide variant |
not provided [RCV001571806] |
Chr1:156875698 [GRCh38]
Chr1:156845490 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+237G>C |
single nucleotide variant |
not provided [RCV001569309] |
Chr1:156861383 [GRCh38]
Chr1:156831175 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.2668G>A (p.Val890Ile) |
single nucleotide variant |
not specified [RCV004297263] |
Chr1:156844531 [GRCh38]
Chr1:156814323 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.428+68T>C |
single nucleotide variant |
not provided [RCV001619521] |
Chr1:156867046 [GRCh38]
Chr1:156836838 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.718-206dup |
duplication |
not provided [RCV001561514] |
Chr1:156871407..156871408 [GRCh38]
Chr1:156841199..156841200 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-257G>A |
single nucleotide variant |
not provided [RCV001654238] |
Chr1:156867847 [GRCh38]
Chr1:156837639 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2206-227C>T |
single nucleotide variant |
not provided [RCV001639139] |
Chr1:156881230 [GRCh38]
Chr1:156851022 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2092A>C (p.Ser698Arg) |
single nucleotide variant |
not provided [RCV001582316] |
Chr1:156880044 [GRCh38]
Chr1:156849836 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1203C>A (p.Asn401Lys) |
single nucleotide variant |
not provided [RCV002284759] |
Chr1:156874578 [GRCh38]
Chr1:156844370 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1501+35GT[19] |
microsatellite |
not provided [RCV001717840] |
Chr1:156875700..156875701 [GRCh38]
Chr1:156845492..156845493 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.851-37G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001832794]|not provided [RCV001577556] |
Chr1:156873596 [GRCh38]
Chr1:156843388 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.1633-40C>T |
single nucleotide variant |
not provided [RCV001570701] |
Chr1:156876360 [GRCh38]
Chr1:156846152 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-96G>A |
single nucleotide variant |
not provided [RCV001570718] |
Chr1:156875984 [GRCh38]
Chr1:156845776 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3857G>A (p.Arg1286Lys) |
single nucleotide variant |
not specified [RCV004303914] |
Chr1:156840910 [GRCh38]
Chr1:156810702 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3243C>A (p.Asn1081Lys) |
single nucleotide variant |
not specified [RCV004326962] |
Chr1:156842266 [GRCh38]
Chr1:156812058 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1347G>T (p.Gly449=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001498086] |
Chr1:156875001 [GRCh38]
Chr1:156844793 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1083G>T (p.Leu361=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986440] |
Chr1:156873865 [GRCh38]
Chr1:156843657 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.792G>A (p.Thr264=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001274806] |
Chr1:156871697 [GRCh38]
Chr1:156841489 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2028C>T (p.Tyr676=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001411269] |
Chr1:156879344 [GRCh38]
Chr1:156849136 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2259A>C (p.Pro753=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001467646] |
Chr1:156881510 [GRCh38]
Chr1:156851302 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2206-7G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000908430] |
Chr1:156881450 [GRCh38]
Chr1:156851242 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2127C>T (p.Asp709=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000938400]|not provided [RCV004711428] |
Chr1:156880079 [GRCh38]
Chr1:156849871 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1452T>C (p.Ser484=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001460487] |
Chr1:156875617 [GRCh38]
Chr1:156845409 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2016C>T (p.Ser672=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001430555] |
Chr1:156879332 [GRCh38]
Chr1:156849124 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.183C>T (p.His61=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001481911] |
Chr1:156861117 [GRCh38]
Chr1:156830909 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000945399]|Inborn genetic diseases [RCV002416216] |
Chr1:156880065 [GRCh38]
Chr1:156849857 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_014215.3(INSRR):c.2289G>A (p.Gln763=) |
single nucleotide variant |
not provided [RCV000974863] |
Chr1:156845224 [GRCh38]
Chr1:156815016 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1647G>A (p.Ala549=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000952483] |
Chr1:156876414 [GRCh38]
Chr1:156846206 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2139C>T (p.Phe713=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000953851] |
Chr1:156880091 [GRCh38]
Chr1:156849883 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1398G>T (p.Leu466=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001493982] |
Chr1:156875563 [GRCh38]
Chr1:156845355 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1395C>T (p.Ser465=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001832255] |
Chr1:156875560 [GRCh38]
Chr1:156845352 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.315C>T (p.Phe105=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876287]|not provided [RCV005243395] |
Chr1:156864755 [GRCh38]
Chr1:156834547 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1597C>T (p.Leu533=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000904534] |
Chr1:156876175 [GRCh38]
Chr1:156845967 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.213-9T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001447973] |
Chr1:156864345 [GRCh38]
Chr1:156834137 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.675C>T (p.Ala225=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000876565] |
Chr1:156868605 [GRCh38]
Chr1:156838397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1193T>C (p.Val398Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001406009] |
Chr1:156874398 [GRCh38]
Chr1:156844190 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001035125]|NTRK1-related disorder [RCV003411959] |
Chr1:156879261 [GRCh38]
Chr1:156849053 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.544C>G (p.Pro182Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001244727] |
Chr1:156868219 [GRCh38]
Chr1:156838011 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.256G>T (p.Asp86Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001239468]|Inborn genetic diseases [RCV004034615] |
Chr1:156864397 [GRCh38]
Chr1:156834189 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.*39C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101772] |
Chr1:156881681 [GRCh38]
Chr1:156851473 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001050651]|Inborn genetic diseases [RCV003283904] |
Chr1:156861037 [GRCh38]
Chr1:156830829 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.305G>T (p.Gly102Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001208488] |
Chr1:156864745 [GRCh38]
Chr1:156834537 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1484A>G (p.Gln495Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001216651]|Inborn genetic diseases [RCV004034003] |
Chr1:156875649 [GRCh38]
Chr1:156845441 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.164C>A (p.Ala55Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001205613] |
Chr1:156861098 [GRCh38]
Chr1:156830890 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2243G>A (p.Arg748Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001240148]|not provided [RCV005411690] |
Chr1:156881494 [GRCh38]
Chr1:156851286 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1868G>A (p.Gly623Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001245312] |
Chr1:156879184 [GRCh38]
Chr1:156848976 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.359+227_433del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001043393] |
Chr1:156865026..156868108 [GRCh38]
Chr1:156834818..156837900 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1748G>T (p.Arg583Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001224211] |
Chr1:156876515 [GRCh38]
Chr1:156846307 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.226_229dup (p.Gln77fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001069841] |
Chr1:156864365..156864366 [GRCh38]
Chr1:156834157..156834158 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001241331]|Inborn genetic diseases [RCV002379925]|not provided [RCV001569507] |
Chr1:156874974 [GRCh38]
Chr1:156844766 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1621G>T (p.Val541Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001228125]|Inborn genetic diseases [RCV002402713] |
Chr1:156876199 [GRCh38]
Chr1:156845991 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.122+2042G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986436]|not provided [RCV004715366] |
Chr1:156844235 [GRCh38]
Chr1:156814027 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_014215.3(INSRR):c.736T>C (p.Cys246Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000986438]|not provided [RCV002511009] |
Chr1:156852093 [GRCh38]
Chr1:156821885 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1811-5C>T |
single nucleotide variant |
not provided [RCV000911054] |
Chr1:156846124 [GRCh38]
Chr1:156815916 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.138G>C (p.Ser46=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000912274] |
Chr1:156861072 [GRCh38]
Chr1:156830864 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3663-5A>G |
single nucleotide variant |
not provided [RCV000955791] |
Chr1:156841109 [GRCh38]
Chr1:156810901 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.927G>A (p.Pro309=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV000956211]|NTRK1-related disorder [RCV003970777]|not specified [RCV001797805] |
Chr1:156873709 [GRCh38]
Chr1:156843501 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.46A>G (p.Ile16Val) |
single nucleotide variant |
not provided [RCV004810132] |
Chr1:156858576 [GRCh38]
Chr1:156828368 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.835C>T (p.Arg279Cys) |
single nucleotide variant |
not provided [RCV000912685] |
Chr1:156851994 [GRCh38]
Chr1:156821786 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1500G>A (p.Leu500=) |
single nucleotide variant |
not provided [RCV004809364] |
Chr1:156848992 [GRCh38]
Chr1:156818784 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_003975.4(SH2D2A):c.111G>C (p.Leu37=) |
single nucleotide variant |
not provided [RCV001531647] |
Chr1:156816018 [GRCh38]
Chr1:156785810 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-3C>A |
single nucleotide variant |
not provided [RCV001552021] |
Chr1:156864351 [GRCh38]
Chr1:156834143 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.212+107C>T |
single nucleotide variant |
not provided [RCV001558260] |
Chr1:156861253 [GRCh38]
Chr1:156831045 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-72G>A |
single nucleotide variant |
not provided [RCV001677913] |
Chr1:156879050 [GRCh38]
Chr1:156848842 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_001007792.1(NTRK1):c.-75del |
deletion |
not provided [RCV001595808] |
Chr1:156815753 [GRCh38]
Chr1:156785545 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1502-106C>T |
single nucleotide variant |
not provided [RCV001586786] |
Chr1:156875974 [GRCh38]
Chr1:156845766 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+156C>T |
single nucleotide variant |
not provided [RCV001656271] |
Chr1:156861302 [GRCh38]
Chr1:156831094 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_014215.3(INSRR):c.260G>A (p.Arg87His) |
single nucleotide variant |
not specified [RCV004325968] |
Chr1:156854129 [GRCh38]
Chr1:156823921 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1501+35GT[17] |
microsatellite |
not provided [RCV001713445] |
Chr1:156875701..156875702 [GRCh38]
Chr1:156845493..156845494 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.212+130_212+160del |
deletion |
not provided [RCV001655026] |
Chr1:156861269..156861299 [GRCh38]
Chr1:156831061..156831091 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.287+84G>A |
single nucleotide variant |
not provided [RCV001674617] |
Chr1:156864512 [GRCh38]
Chr1:156834304 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1178-108C>T |
single nucleotide variant |
not provided [RCV001592151] |
Chr1:156874275 [GRCh38]
Chr1:156844067 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+35GT[20] |
microsatellite |
not provided [RCV001619719] |
Chr1:156875700..156875701 [GRCh38]
Chr1:156845492..156845493 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2205+129C>T |
single nucleotide variant |
not provided [RCV001539388] |
Chr1:156880286 [GRCh38]
Chr1:156850078 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.429-49T>C |
single nucleotide variant |
not provided [RCV001658629] |
Chr1:156868055 [GRCh38]
Chr1:156837847 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.575-65A>G |
single nucleotide variant |
not provided [RCV001545953] |
Chr1:156868440 [GRCh38]
Chr1:156838232 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+35GT[21] |
microsatellite |
not provided [RCV001722022] |
Chr1:156875700..156875701 [GRCh38]
Chr1:156845492..156845493 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.428+47C>T |
single nucleotide variant |
not provided [RCV001617876] |
Chr1:156867025 [GRCh38]
Chr1:156836817 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2368G>A (p.Val790Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001057914]|Inborn genetic diseases [RCV002445158]|not provided [RCV004569846]|not specified [RCV001000792] |
Chr1:156881619 [GRCh38]
Chr1:156851411 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.575-16C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002068793]|not specified [RCV001002431] |
Chr1:156868489 [GRCh38]
Chr1:156838281 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.590A>G (p.Lys197Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001071741]|Inborn genetic diseases [RCV003160591] |
Chr1:156868520 [GRCh38]
Chr1:156838312 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.213-5C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099603] |
Chr1:156864349 [GRCh38]
Chr1:156834141 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1005G>A (p.Pro335=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099693]|not provided [RCV003326538] |
Chr1:156873787 [GRCh38]
Chr1:156843579 [GRCh37]
Chr1:1q23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.1196-11T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001099694] |
Chr1:156874560 [GRCh38]
Chr1:156844352 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.265G>A (p.Gly89Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101573] |
Chr1:156864406 [GRCh38]
Chr1:156834198 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101683] |
Chr1:156876413 [GRCh38]
Chr1:156846205 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.288-5C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101574]|Inborn genetic diseases [RCV002436704] |
Chr1:156864723 [GRCh38]
Chr1:156834515 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001101575] |
Chr1:156864766 [GRCh38]
Chr1:156834558 [GRCh37]
Chr1:1q23.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002529.4(NTRK1):c.851-30C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001826396]|NTRK1-related disorder [RCV003910867]|not provided [RCV001548374] |
Chr1:156873603 [GRCh38]
Chr1:156843395 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_001007792.1(NTRK1):c.123-3660C>T |
single nucleotide variant |
not provided [RCV001683787] |
Chr1:156860694 [GRCh38]
Chr1:156830486 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_014215.3(INSRR):c.1785C>T (p.Ile595=) |
single nucleotide variant |
not provided [RCV001532554] |
Chr1:156846544 [GRCh38]
Chr1:156816336 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-199A>C |
single nucleotide variant |
not provided [RCV001640824] |
Chr1:156875881 [GRCh38]
Chr1:156845673 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.287+144G>A |
single nucleotide variant |
not provided [RCV001611946] |
Chr1:156864572 [GRCh38]
Chr1:156834364 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1632+64A>G |
single nucleotide variant |
not provided [RCV001585602] |
Chr1:156876274 [GRCh38]
Chr1:156846066 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-239G>A |
single nucleotide variant |
not provided [RCV001612296] |
Chr1:156879760 [GRCh38]
Chr1:156849552 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2055_2058dup (p.Thr687fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001036150] |
Chr1:156880006..156880007 [GRCh38]
Chr1:156849798..156849799 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2047-140C>T |
single nucleotide variant |
not provided [RCV001610214] |
Chr1:156879859 [GRCh38]
Chr1:156849651 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2231G>A (p.Arg744His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001048568]|NTRK1-related disorder [RCV003953444]|not provided [RCV001310878] |
Chr1:156881482 [GRCh38]
Chr1:156851274 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1060G>A (p.Val354Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001217062] |
Chr1:156873842 [GRCh38]
Chr1:156843634 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.940C>G (p.Arg314Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001060275] |
Chr1:156873722 [GRCh38]
Chr1:156843514 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.428+3G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001220167] |
Chr1:156866981 [GRCh38]
Chr1:156836773 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1404C>G (p.Phe468Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001035672] |
Chr1:156875569 [GRCh38]
Chr1:156845361 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.718-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001220349] |
Chr1:156871622 [GRCh38]
Chr1:156841414 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1676G>A (p.Arg559His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001060990]|Inborn genetic diseases [RCV002402433] |
Chr1:156876443 [GRCh38]
Chr1:156846235 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1358C>T (p.Pro453Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001050807] |
Chr1:156875523 [GRCh38]
Chr1:156845315 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1373C>T (p.Pro458Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001061230] |
Chr1:156875538 [GRCh38]
Chr1:156845330 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1843G>C (p.Glu615Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001058187] |
Chr1:156879159 [GRCh38]
Chr1:156848951 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1287C>A (p.Cys429Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001205093] |
Chr1:156874941 [GRCh38]
Chr1:156844733 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.2296C>T (p.Arg766Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001204087]|not provided [RCV002261302] |
Chr1:156881547 [GRCh38]
Chr1:156851339 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.229CAGCATCTG[1] (p.77QHL[1]) |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV001207262] |
Chr1:156864369..156864377 [GRCh38]
Chr1:156834161..156834169 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2143del (p.Val715fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001207315] |
Chr1:156880095 [GRCh38]
Chr1:156849887 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.2312G>A (p.Arg771His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001064041] |
Chr1:156881563 [GRCh38]
Chr1:156851355 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.231del (p.Gln77fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001203646] |
Chr1:156864372 [GRCh38]
Chr1:156834164 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1024C>T (p.Arg342Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001051547] |
Chr1:156873806 [GRCh38]
Chr1:156843598 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.301A>G (p.Ser101Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001041658] |
Chr1:156864741 [GRCh38]
Chr1:156834533 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1079C>T (p.Thr360Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001056147] |
Chr1:156873861 [GRCh38]
Chr1:156843653 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.899G>A (p.Cys300Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001052028] |
Chr1:156873681 [GRCh38]
Chr1:156843473 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1040G>A (p.Arg347His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001212075] |
Chr1:156873822 [GRCh38]
Chr1:156843614 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.500T>G (p.Leu167Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001039376]|Inborn genetic diseases [RCV002339197] |
Chr1:156868175 [GRCh38]
Chr1:156837967 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.9+103T>C |
single nucleotide variant |
not provided [RCV001564893] |
Chr1:156815941 [GRCh38]
Chr1:156785733 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2271C>G (p.Tyr757Ter) |
single nucleotide variant |
Intellectual disability [RCV001261392] |
Chr1:156881522 [GRCh38]
Chr1:156851314 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1753del (p.Leu585fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001333635] |
Chr1:156876516 [GRCh38]
Chr1:156846308 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001257443]|Hereditary insensitivity to pain with anhidrosis [RCV005094229] |
Chr1:156876535 [GRCh38]
Chr1:156846327 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1919A>C (p.Tyr640Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001304965] |
Chr1:156879235 [GRCh38]
Chr1:156849027 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.445C>G (p.Pro149Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001309900] |
Chr1:156868120 [GRCh38]
Chr1:156837912 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.309C>T (p.Leu103=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001414270] |
Chr1:156864749 [GRCh38]
Chr1:156834541 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-7C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001372259] |
Chr1:156873626 [GRCh38]
Chr1:156843418 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.186G>A (p.Leu62=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001414989] |
Chr1:156861120 [GRCh38]
Chr1:156830912 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2025_2026del (p.Tyr676fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001383101] |
Chr1:156879340..156879341 [GRCh38]
Chr1:156849132..156849133 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.921G>A (p.Gly307=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001422159] |
Chr1:156873703 [GRCh38]
Chr1:156843495 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1221G>T (p.Pro407=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001396984] |
Chr1:156874596 [GRCh38]
Chr1:156844388 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1620G>T (p.Leu540=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001397066] |
Chr1:156876198 [GRCh38]
Chr1:156845990 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2301G>A (p.Glu767=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001277510] |
Chr1:156881552 [GRCh38]
Chr1:156851344 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1502-24G>A |
single nucleotide variant |
not provided [RCV001786728] |
Chr1:156876056 [GRCh38]
Chr1:156845848 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1877dup (p.Leu627fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001382532] |
Chr1:156879192..156879193 [GRCh38]
Chr1:156848984..156848985 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.787G>A (p.Val263Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279998]|Inborn genetic diseases [RCV002411924] |
Chr1:156871692 [GRCh38]
Chr1:156841484 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2205+10G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280011]|NTRK1-related disorder [RCV003953624] |
Chr1:156880167 [GRCh38]
Chr1:156849959 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1782C>T (p.His594=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001423111] |
Chr1:156876549 [GRCh38]
Chr1:156846341 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_002529.4(NTRK1):c.1845G>A (p.Glu615=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001397295] |
Chr1:156879161 [GRCh38]
Chr1:156848953 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1539G>A (p.Lys513=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001392745] |
Chr1:156876117 [GRCh38]
Chr1:156845909 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.785A>G (p.Asn262Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001333636] |
Chr1:156871690 [GRCh38]
Chr1:156841482 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.851-4A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001397305] |
Chr1:156873629 [GRCh38]
Chr1:156843421 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1004C>A (p.Pro335Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001313589] |
Chr1:156873786 [GRCh38]
Chr1:156843578 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1341G>A (p.Lys447=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001423173] |
Chr1:156874995 [GRCh38]
Chr1:156844787 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NC_000001.10:g.(?_156834510)_(156834601_?)del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001343469] |
Chr1:156834510..156834601 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1783G>A (p.Gly595Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001364092]|Inborn genetic diseases [RCV004651622] |
Chr1:156876550 [GRCh38]
Chr1:156846342 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2372A>G (p.Tyr791Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001364673] |
Chr1:156881623 [GRCh38]
Chr1:156851415 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1907C>A (p.Ala636Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001370056] |
Chr1:156879223 [GRCh38]
Chr1:156849015 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.917A>T (p.Asp306Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001338665] |
Chr1:156873699 [GRCh38]
Chr1:156843491 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1139A>G (p.Asp380Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001320237]|not provided [RCV004779065] |
Chr1:156873921 [GRCh38]
Chr1:156843713 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1586G>A (p.Cys529Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001300272] |
Chr1:156876164 [GRCh38]
Chr1:156845956 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1732G>A (p.Val578Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001352307]|Inborn genetic diseases [RCV002404836]|not provided [RCV004691430] |
Chr1:156876499 [GRCh38]
Chr1:156846291 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1720C>A (p.Arg574Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001341040] |
Chr1:156876487 [GRCh38]
Chr1:156846279 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.508G>A (p.Val170Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001319056] |
Chr1:156868183 [GRCh38]
Chr1:156837975 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.917A>G (p.Asp306Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001322221] |
Chr1:156873699 [GRCh38]
Chr1:156843491 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.7C>G (p.Arg3Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279993]|Inborn genetic diseases [RCV002542939] |
Chr1:156860941 [GRCh38]
Chr1:156830733 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.116C>A (p.Ala39Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279994] |
Chr1:156861050 [GRCh38]
Chr1:156830842 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1650C>T (p.Ser550=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280009] |
Chr1:156876417 [GRCh38]
Chr1:156846209 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2124C>T (p.Ser708=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280010] |
Chr1:156880076 [GRCh38]
Chr1:156849868 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1021G>A (p.Val341Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280001] |
Chr1:156873803 [GRCh38]
Chr1:156843595 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.543G>T (p.Gly181=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001320751] |
Chr1:156868218 [GRCh38]
Chr1:156838010 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1888G>A (p.Val630Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001307105]|not provided [RCV001773614] |
Chr1:156879204 [GRCh38]
Chr1:156848996 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2239G>A (p.Glu747Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001295666] |
Chr1:156881490 [GRCh38]
Chr1:156851282 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1777C>T (p.Arg593Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001318356]|Inborn genetic diseases [RCV002546059] |
Chr1:156876544 [GRCh38]
Chr1:156846336 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.948C>T (p.Leu316=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001421355] |
Chr1:156873730 [GRCh38]
Chr1:156843522 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.57G>T (p.Pro19=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001421416] |
Chr1:156860991 [GRCh38]
Chr1:156830783 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1092C>G (p.Ala364=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001395433] |
Chr1:156873874 [GRCh38]
Chr1:156843666 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.626A>G (p.Asp209Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001299792] |
Chr1:156868556 [GRCh38]
Chr1:156838348 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1114G>T (p.Ala372Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280002] |
Chr1:156873896 [GRCh38]
Chr1:156843688 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.254G>T (p.Arg85Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279995] |
Chr1:156864395 [GRCh38]
Chr1:156834187 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.435G>C (p.Leu145=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001279996] |
Chr1:156868110 [GRCh38]
Chr1:156837902 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1177+4C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001280003] |
Chr1:156873963 [GRCh38]
Chr1:156843755 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.588G>A (p.Leu196=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001395920]|not provided [RCV003405642] |
Chr1:156868518 [GRCh38]
Chr1:156838310 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.189C>G (p.Pro63=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001412926] |
Chr1:156861123 [GRCh38]
Chr1:156830915 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2234A>G (p.Glu745Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001326638] |
Chr1:156881485 [GRCh38]
Chr1:156851277 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1632+7C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001450823] |
Chr1:156876217 [GRCh38]
Chr1:156846009 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1257G>C (p.Ser419=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001468146] |
Chr1:156874911 [GRCh38]
Chr1:156844703 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.360-4G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001498372]|Inborn genetic diseases [RCV002456896] |
Chr1:156866906 [GRCh38]
Chr1:156836698 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1911G>A (p.Gly637=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001454747] |
Chr1:156879227 [GRCh38]
Chr1:156849019 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.444C>T (p.Asn148=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001479286] |
Chr1:156868119 [GRCh38]
Chr1:156837911 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.804G>A (p.Glu268=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001468399] |
Chr1:156871709 [GRCh38]
Chr1:156841501 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1530C>T (p.Ile510=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001435887] |
Chr1:156876108 [GRCh38]
Chr1:156845900 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1719G>A (p.Val573=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001436051] |
Chr1:156876486 [GRCh38]
Chr1:156846278 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2098C>T (p.Leu700=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001502178] |
Chr1:156880050 [GRCh38]
Chr1:156849842 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.201C>T (p.Asn67=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001484477] |
Chr1:156861135 [GRCh38]
Chr1:156830927 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.360-8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001490860] |
Chr1:156866902 [GRCh38]
Chr1:156836694 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001378124]|not provided [RCV001587384] |
Chr1:156875667 [GRCh38]
Chr1:156845459 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_002529.4(NTRK1):c.1971A>G (p.Leu657=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001484654] |
Chr1:156879287 [GRCh38]
Chr1:156849079 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.810T>C (p.Asp270=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001491117]|not provided [RCV003883671] |
Chr1:156871715 [GRCh38]
Chr1:156841507 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1410A>G (p.Thr470=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001475356] |
Chr1:156875575 [GRCh38]
Chr1:156845367 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1716C>T (p.Ile572=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001503151] |
Chr1:156876483 [GRCh38]
Chr1:156846275 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.831T>C (p.Ser277=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001436486] |
Chr1:156871736 [GRCh38]
Chr1:156841528 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1649_1650insGGCAGGAAGTCGGCACTGAA (p.Ser550_Glu551insAlaGlySerArgHisTer) |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV001387630] |
Chr1:156876416..156876417 [GRCh38]
Chr1:156846208..156846209 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.735A>G (p.Pro245=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001402578] |
Chr1:156871640 [GRCh38]
Chr1:156841432 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.534T>C (p.His178=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001496891] |
Chr1:156868209 [GRCh38]
Chr1:156838001 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2259A>G (p.Pro753=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001499555] |
Chr1:156881510 [GRCh38]
Chr1:156851302 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.330C>T (p.Ala110=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001455398] |
Chr1:156864770 [GRCh38]
Chr1:156834562 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1044C>T (p.Leu348=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001475612] |
Chr1:156873826 [GRCh38]
Chr1:156843618 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2007T>C (p.Phe669=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001459705] |
Chr1:156879323 [GRCh38]
Chr1:156849115 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2151C>T (p.Leu717=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001499832] |
Chr1:156880103 [GRCh38]
Chr1:156849895 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1740C>T (p.Thr580=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001423366] |
Chr1:156876507 [GRCh38]
Chr1:156846299 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-189C>T |
single nucleotide variant |
not provided [RCV001539196] |
Chr1:156867915 [GRCh38]
Chr1:156837707 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.102A>G (p.Ala34=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001434153] |
Chr1:156861036 [GRCh38]
Chr1:156830828 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1779G>T (p.Arg593=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001489358] |
Chr1:156876546 [GRCh38]
Chr1:156846338 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1149C>T (p.Phe383=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001513399] |
Chr1:156873931 [GRCh38]
Chr1:156843723 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.336T>C (p.His112=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001456150] |
Chr1:156864776 [GRCh38]
Chr1:156834568 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1197C>T (p.Asp399=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001467300] |
Chr1:156874572 [GRCh38]
Chr1:156844364 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NC_000001.10:g.(?_156834818)_156837900del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001376899] |
|
likely pathogenic |
| NM_002529.4(NTRK1):c.213-6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001463545] |
Chr1:156864348 [GRCh38]
Chr1:156834140 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2373C>T (p.Tyr791=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001489664] |
Chr1:156881624 [GRCh38]
Chr1:156851416 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1680G>A (p.Glu560=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001470772] |
Chr1:156876447 [GRCh38]
Chr1:156846239 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.202C>T (p.Leu68=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001437869] |
Chr1:156861136 [GRCh38]
Chr1:156830928 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.855G>A (p.Pro285=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001403913] |
Chr1:156873637 [GRCh38]
Chr1:156843429 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1032G>A (p.Gly344=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001431983] |
Chr1:156873814 [GRCh38]
Chr1:156843606 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1167C>T (p.Asp389=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001491972] |
Chr1:156873949 [GRCh38]
Chr1:156843741 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1110C>T (p.Ala370=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001493655] |
Chr1:156873892 [GRCh38]
Chr1:156843684 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.627C>T (p.Asp209=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001424264] |
Chr1:156868557 [GRCh38]
Chr1:156838349 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1665G>A (p.Gln555=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001419582] |
Chr1:156876432 [GRCh38]
Chr1:156846224 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.273G>A (p.Gly91=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001403078] |
Chr1:156864414 [GRCh38]
Chr1:156834206 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.339C>T (p.Phe113=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001448556] |
Chr1:156864779 [GRCh38]
Chr1:156834571 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2070C>T (p.Pro690=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001432542] |
Chr1:156880022 [GRCh38]
Chr1:156849814 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.411C>T (p.Gly137=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001446173] |
Chr1:156866961 [GRCh38]
Chr1:156836753 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+8G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001418470] |
Chr1:156875674 [GRCh38]
Chr1:156845466 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.288-10C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001446407] |
Chr1:156864718 [GRCh38]
Chr1:156834510 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.229C>T (p.Gln77Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001384843] |
Chr1:156864370 [GRCh38]
Chr1:156834162 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.51G>C (p.Ala17=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001409743] |
Chr1:156860985 [GRCh38]
Chr1:156830777 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2133G>A (p.Trp711Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001389855] |
Chr1:156880085 [GRCh38]
Chr1:156849877 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2316C>T (p.His772=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001405095]|NTRK1-related disorder [RCV003953742] |
Chr1:156881567 [GRCh38]
Chr1:156851359 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.789G>A (p.Val263=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001444095] |
Chr1:156871694 [GRCh38]
Chr1:156841486 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.969T>C (p.Asn323=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001446444] |
Chr1:156873751 [GRCh38]
Chr1:156843543 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.372C>T (p.Phe124=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001425710] |
Chr1:156866922 [GRCh38]
Chr1:156836714 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1796_1803dup (p.Arg602fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001385737] |
Chr1:156876561..156876562 [GRCh38]
Chr1:156846353..156846354 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_014215.3(INSRR):c.2796G>A (p.Thr932=) |
single nucleotide variant |
not provided [RCV001532553] |
Chr1:156844222 [GRCh38]
Chr1:156814014 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.406C>T (p.Arg136Cys) |
single nucleotide variant |
not provided [RCV001532555]|not specified [RCV004039232] |
Chr1:156853983 [GRCh38]
Chr1:156823775 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1252-6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001410145] |
Chr1:156874900 [GRCh38]
Chr1:156844692 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2223G>T (p.Thr741=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001393268] |
Chr1:156881474 [GRCh38]
Chr1:156851266 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1812T>C (p.His604=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001449530] |
Chr1:156879128 [GRCh38]
Chr1:156848920 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1536C>T (p.Leu512=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001410708] |
Chr1:156876114 [GRCh38]
Chr1:156845906 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2271C>T (p.Tyr757=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001416220] |
Chr1:156881522 [GRCh38]
Chr1:156851314 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1215A>G (p.Gly405=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001440361] |
Chr1:156874590 [GRCh38]
Chr1:156844382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1196-4A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001408372] |
Chr1:156874567 [GRCh38]
Chr1:156844359 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.989_990del (p.Thr330fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001386515] |
Chr1:156873771..156873772 [GRCh38]
Chr1:156843563..156843564 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.678C>A (p.Gly226=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001434806] |
Chr1:156868608 [GRCh38]
Chr1:156838400 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1827G>A (p.Lys609=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001445310] |
Chr1:156879143 [GRCh38]
Chr1:156848935 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1365G>A (p.Val455=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001431588] |
Chr1:156875530 [GRCh38]
Chr1:156845322 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.933G>A (p.Pro311=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001416299] |
Chr1:156873715 [GRCh38]
Chr1:156843507 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-9G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001418036] |
Chr1:156868095 [GRCh38]
Chr1:156837887 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-91C>T |
single nucleotide variant |
not provided [RCV001535344] |
Chr1:156873542 [GRCh38]
Chr1:156843334 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2031C>T (p.Ser677=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001401776] |
Chr1:156879347 [GRCh38]
Chr1:156849139 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1425C>G (p.Ser475=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001419643] |
Chr1:156875590 [GRCh38]
Chr1:156845382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.669G>A (p.Glu223=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001402902] |
Chr1:156868599 [GRCh38]
Chr1:156838391 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1893T>A (p.Ala631=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001432198] |
Chr1:156879209 [GRCh38]
Chr1:156849001 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.243T>C (p.His81=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001404329] |
Chr1:156864384 [GRCh38]
Chr1:156834176 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2206-6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001481941] |
Chr1:156881451 [GRCh38]
Chr1:156851243 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.342T>A (p.Thr114=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001502327] |
Chr1:156864782 [GRCh38]
Chr1:156834574 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.117C>G (p.Ala39=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001450360] |
Chr1:156861051 [GRCh38]
Chr1:156830843 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1896C>T (p.Ser632=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001461562] |
Chr1:156879212 [GRCh38]
Chr1:156849004 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.57G>A (p.Pro19=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001473305] |
Chr1:156860991 [GRCh38]
Chr1:156830783 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.525G>A (p.Leu175=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001461994] |
Chr1:156868200 [GRCh38]
Chr1:156837992 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-7T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001482974] |
Chr1:156879115 [GRCh38]
Chr1:156848907 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1290C>T (p.Leu430=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001473991] |
Chr1:156874944 [GRCh38]
Chr1:156844736 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1984C>T (p.Leu662=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001502722] |
Chr1:156879300 [GRCh38]
Chr1:156849092 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-10T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001483076] |
Chr1:156879112 [GRCh38]
Chr1:156848904 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-3del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001462685]|Inborn genetic diseases [RCV002329536]|not provided [RCV003326576] |
Chr1:156868096 [GRCh38]
Chr1:156837888 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1546C>T (p.Leu516=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001477006] |
Chr1:156876124 [GRCh38]
Chr1:156845916 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1731C>T (p.Gly577=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001487045] |
Chr1:156876498 [GRCh38]
Chr1:156846290 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.699G>A (p.Glu233=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001487063] |
Chr1:156868629 [GRCh38]
Chr1:156838421 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1074C>T (p.Asn358=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001497234] |
Chr1:156873856 [GRCh38]
Chr1:156843648 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1633-72C>T |
single nucleotide variant |
not provided [RCV001539229] |
Chr1:156876328 [GRCh38]
Chr1:156846120 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.287+49G>T |
single nucleotide variant |
not provided [RCV001670421] |
Chr1:156864477 [GRCh38]
Chr1:156834269 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.563A>G (p.Asn188Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001487519]|Inborn genetic diseases [RCV002562715] |
Chr1:156868238 [GRCh38]
Chr1:156838030 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1411T>C (p.Leu471=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001460092] |
Chr1:156875576 [GRCh38]
Chr1:156845368 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1431C>T (p.Ser477=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001504489] |
Chr1:156875596 [GRCh38]
Chr1:156845388 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001477900] |
Chr1:156873627 [GRCh38]
Chr1:156843419 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-4C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001485302]|Inborn genetic diseases [RCV002562701] |
Chr1:156875516 [GRCh38]
Chr1:156845308 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2217C>T (p.Cys739=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001489113] |
Chr1:156881468 [GRCh38]
Chr1:156851260 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1506T>C (p.Val502=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001456730] |
Chr1:156876084 [GRCh38]
Chr1:156845876 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1932G>T (p.Leu644=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001419431] |
Chr1:156879248 [GRCh38]
Chr1:156849040 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1695C>T (p.Thr565=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001417155] |
Chr1:156876462 [GRCh38]
Chr1:156846254 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2157G>A (p.Glu719=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001450378] |
Chr1:156880109 [GRCh38]
Chr1:156849901 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.786C>T (p.Asn262=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001435867]|not provided [RCV004711624] |
Chr1:156871691 [GRCh38]
Chr1:156841483 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.633G>T (p.Val211=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001437877] |
Chr1:156868563 [GRCh38]
Chr1:156838355 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2034C>T (p.Thr678=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001439520] |
Chr1:156879350 [GRCh38]
Chr1:156849142 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.264G>A (p.Arg88=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001436204] |
Chr1:156864405 [GRCh38]
Chr1:156834197 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.99C>T (p.Ala33=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001490596] |
Chr1:156861033 [GRCh38]
Chr1:156830825 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1638G>A (p.Leu546=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001462622] |
Chr1:156876405 [GRCh38]
Chr1:156846197 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2211C>T (p.Ile737=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001501773] |
Chr1:156881462 [GRCh38]
Chr1:156851254 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.843C>T (p.Asn281=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001506215] |
Chr1:156871748 [GRCh38]
Chr1:156841540 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2313C>T (p.Arg771=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001460698] |
Chr1:156881564 [GRCh38]
Chr1:156851356 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.831T>A (p.Ser277=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001397852] |
Chr1:156871736 [GRCh38]
Chr1:156841528 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1270C>T (p.Leu424=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001393204] |
Chr1:156874924 [GRCh38]
Chr1:156844716 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2281C>A (p.Arg761=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001392910] |
Chr1:156881532 [GRCh38]
Chr1:156851324 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.850+10A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001397781] |
Chr1:156871765 [GRCh38]
Chr1:156841557 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.111C>T (p.Pro37=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001423484] |
Chr1:156861045 [GRCh38]
Chr1:156830837 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2229A>C (p.Gly743=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001452086]|not provided [RCV001532558] |
Chr1:156881480 [GRCh38]
Chr1:156851272 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.249G>A (p.Glu83=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001476700] |
Chr1:156864390 [GRCh38]
Chr1:156834182 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-7G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001418432] |
Chr1:156879992 [GRCh38]
Chr1:156849784 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.54G>A (p.Gly18=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001436967] |
Chr1:156860988 [GRCh38]
Chr1:156830780 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.66G>C (p.Leu22=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001402399] |
Chr1:156861000 [GRCh38]
Chr1:156830792 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.575-19G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001386283]|not provided [RCV002280181] |
Chr1:156868486 [GRCh38]
Chr1:156838278 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1245T>C (p.Pro415=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001418688] |
Chr1:156874620 [GRCh38]
Chr1:156844412 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2242C>A (p.Arg748=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001402512] |
Chr1:156881493 [GRCh38]
Chr1:156851285 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1294del (p.Leu432fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001390022] |
Chr1:156874947 [GRCh38]
Chr1:156844739 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1005G>C (p.Pro335=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001477297] |
Chr1:156873787 [GRCh38]
Chr1:156843579 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2118C>T (p.Thr706=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001499766] |
Chr1:156880070 [GRCh38]
Chr1:156849862 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1800C>T (p.Phe600=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001455101] |
Chr1:156876567 [GRCh38]
Chr1:156846359 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.231G>A (p.Gln77=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001455142] |
Chr1:156864372 [GRCh38]
Chr1:156834164 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-13G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003109216] |
Chr1:156864341 [GRCh38]
Chr1:156834133 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046dup (p.Val683fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002251084] |
Chr1:156879361..156879362 [GRCh38]
Chr1:156849153..156849154 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_014215.3(INSRR):c.909G>C (p.Gln303His) |
single nucleotide variant |
not provided [RCV005243060] |
Chr1:156851920 [GRCh38]
Chr1:156821712 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1891C>A (p.Arg631Ser) |
single nucleotide variant |
not specified [RCV004300225] |
Chr1:156846039 [GRCh38]
Chr1:156815831 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.788dup (p.Thr264fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003511767] |
Chr1:156871692..156871693 [GRCh38]
Chr1:156841484..156841485 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2013G>A (p.Met671Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV005374784]|not provided [RCV001762775] |
Chr1:156879329 [GRCh38]
Chr1:156849121 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.429-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002539867]|not provided [RCV001756426] |
Chr1:156868103 [GRCh38]
Chr1:156837895 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.92C>T (p.Ala31Val) |
single nucleotide variant |
not provided [RCV001769318] |
Chr1:156861026 [GRCh38]
Chr1:156830818 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354+1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001784762] |
Chr1:156875009 [GRCh38]
Chr1:156844801 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1276G>A (p.Val426Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003346689]|Inborn genetic diseases [RCV002540580]|not provided [RCV001773215] |
Chr1:156874930 [GRCh38]
Chr1:156844722 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.72C>G (p.Thr24=) |
single nucleotide variant |
not provided [RCV001767458] |
Chr1:156842143 [GRCh38]
Chr1:156811935 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.303T>A (p.Ser101Arg) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001780051] |
Chr1:156864743 [GRCh38]
Chr1:156834535 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.2454T>A (p.Ile818=) |
single nucleotide variant |
not provided [RCV001816066] |
Chr1:156844827 [GRCh38]
Chr1:156814619 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+5G>A |
single nucleotide variant |
not provided [RCV001756427] |
Chr1:156875671 [GRCh38]
Chr1:156845463 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_014215.3(INSRR):c.2250C>T (p.Pro750=) |
single nucleotide variant |
not provided [RCV001815684] |
Chr1:156845263 [GRCh38]
Chr1:156815055 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-19G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001803616] |
Chr1:156875501 [GRCh38]
Chr1:156845293 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1633-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001983045] |
Chr1:156876399 [GRCh38]
Chr1:156846191 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1294C>G (p.Leu432Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001971554] |
Chr1:156874948 [GRCh38]
Chr1:156844740 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2078G>A (p.Trp693Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001950603] |
Chr1:156880030 [GRCh38]
Chr1:156849822 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1903G>A (p.Ala635Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002024188] |
Chr1:156879219 [GRCh38]
Chr1:156849011 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001912697]|Inborn genetic diseases [RCV004041645] |
Chr1:156881562 [GRCh38]
Chr1:156851354 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.851-2A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002008582] |
Chr1:156873631 [GRCh38]
Chr1:156843423 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.70G>T (p.Ala24Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001929486] |
Chr1:156861004 [GRCh38]
Chr1:156830796 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1715T>C (p.Ile572Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001988033] |
Chr1:156876482 [GRCh38]
Chr1:156846274 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1997T>C (p.Ile666Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001928571] |
Chr1:156879313 [GRCh38]
Chr1:156849105 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1040G>T (p.Arg347Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001988000] |
Chr1:156873822 [GRCh38]
Chr1:156843614 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1661G>C (p.Arg554Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001946562] |
Chr1:156876428 [GRCh38]
Chr1:156846220 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.662G>A (p.Gly221Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001915160]|Inborn genetic diseases [RCV003355623]|not provided [RCV002261411] |
Chr1:156868592 [GRCh38]
Chr1:156838384 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1376A>G (p.Glu459Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001896524] |
Chr1:156875541 [GRCh38]
Chr1:156845333 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.425A>G (p.Glu142Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001891147] |
Chr1:156866975 [GRCh38]
Chr1:156836767 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001985821] |
Chr1:156860937 [GRCh38]
Chr1:156830729 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1961G>A (p.Arg654His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002041093] |
Chr1:156879277 [GRCh38]
Chr1:156849069 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1 |
copy number loss |
not provided [RCV001829219] |
Chr1:156665257..156902706 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2053G>A (p.Gly685Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001911265] |
Chr1:156880005 [GRCh38]
Chr1:156849797 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.412C>T (p.Leu138Phe) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001913909] |
Chr1:156866962 [GRCh38]
Chr1:156836754 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_155581953)_(156851434_?)del |
deletion |
Charcot-Marie-Tooth disease type 2 [RCV001983077] |
Chr1:155581953..156851434 [GRCh37]
Chr1:1q22-23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1927G>A (p.Gly643Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001928196] |
Chr1:156879243 [GRCh38]
Chr1:156849035 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.595C>T (p.Gln199Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001909791] |
Chr1:156868525 [GRCh38]
Chr1:156838317 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1805+6A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001983309] |
Chr1:156876578 [GRCh38]
Chr1:156846370 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.63C>G (p.Ser21Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001908358] |
Chr1:156860997 [GRCh38]
Chr1:156830789 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1267G>T (p.Gly423Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001889505] |
Chr1:156874921 [GRCh38]
Chr1:156844713 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2301G>T (p.Glu767Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002022475] |
Chr1:156881552 [GRCh38]
Chr1:156851344 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1094del (p.Asn365fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001910720] |
Chr1:156873875 [GRCh38]
Chr1:156843667 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1103G>T (p.Gly368Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001870790] |
Chr1:156873885 [GRCh38]
Chr1:156843677 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1796G>T (p.Arg599Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002024585] |
Chr1:156876563 [GRCh38]
Chr1:156846355 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1020C>G (p.Thr340=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001893345] |
Chr1:156873802 [GRCh38]
Chr1:156843594 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1903G>T (p.Ala635Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002041624] |
Chr1:156879219 [GRCh38]
Chr1:156849011 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.513del (p.Glu172fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001893073] |
Chr1:156868188 [GRCh38]
Chr1:156837980 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1523G>A (p.Arg508Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001960875] |
Chr1:156876101 [GRCh38]
Chr1:156845893 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_156837886)_(156841557_?)del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001962965] |
Chr1:156837886..156841557 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1861C>G (p.Pro621Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002036919] |
Chr1:156879177 [GRCh38]
Chr1:156848969 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2194T>G (p.Ser732Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002019581] |
Chr1:156880146 [GRCh38]
Chr1:156849938 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1887_1888delinsTA (p.Val630Met) |
indel |
Hereditary insensitivity to pain with anhidrosis [RCV001944248] |
Chr1:156879203..156879204 [GRCh38]
Chr1:156848995..156848996 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1981G>T (p.Gly661Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001944254] |
Chr1:156879297 [GRCh38]
Chr1:156849089 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2056C>A (p.Arg686Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001884221] |
Chr1:156880008 [GRCh38]
Chr1:156849800 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.97G>T (p.Ala33Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001941402]|Inborn genetic diseases [RCV002386781]|not provided [RCV003456508] |
Chr1:156861031 [GRCh38]
Chr1:156830823 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.875C>A (p.Thr292Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001971858] |
Chr1:156873657 [GRCh38]
Chr1:156843449 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1552del (p.Glu518fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001950863] |
Chr1:156876126 [GRCh38]
Chr1:156845918 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.226C>A (p.Gln76Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001926292] |
Chr1:156864367 [GRCh38]
Chr1:156834159 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1298del (p.Ser433fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001941533] |
Chr1:156874952 [GRCh38]
Chr1:156844744 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2229A>G (p.Gly743=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001942166] |
Chr1:156881480 [GRCh38]
Chr1:156851272 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2109G>A (p.Lys703=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001941769] |
Chr1:156880061 [GRCh38]
Chr1:156849853 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.381G>A (p.Leu127=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002013089] |
Chr1:156866931 [GRCh38]
Chr1:156836723 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.481C>T (p.Arg161Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001917967] |
Chr1:156868156 [GRCh38]
Chr1:156837948 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.782A>G (p.Lys261Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001917998] |
Chr1:156871687 [GRCh38]
Chr1:156841479 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.511C>T (p.Pro171Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002016323] |
Chr1:156868186 [GRCh38]
Chr1:156837978 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.713T>G (p.Val238Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001899349] |
Chr1:156868643 [GRCh38]
Chr1:156838435 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.850+1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001956056] |
Chr1:156871756 [GRCh38]
Chr1:156841548 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2301G>C (p.Glu767Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001901009] |
Chr1:156881552 [GRCh38]
Chr1:156851344 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.190G>A (p.Gly64Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001866542] |
Chr1:156861124 [GRCh38]
Chr1:156830916 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.359+1G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002011006] |
Chr1:156864800 [GRCh38]
Chr1:156834592 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.521A>G (p.Lys174Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001902721] |
Chr1:156868196 [GRCh38]
Chr1:156837988 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1501+2T>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001989005] |
Chr1:156875668 [GRCh38]
Chr1:156845460 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2308C>A (p.Gln770Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001864893] |
Chr1:156881559 [GRCh38]
Chr1:156851351 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.172A>C (p.Ser58Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001901237] |
Chr1:156861106 [GRCh38]
Chr1:156830898 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1438G>T (p.Glu480Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001993387] |
Chr1:156875603 [GRCh38]
Chr1:156845395 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2074C>T (p.Arg692Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001958041]|not specified [RCV004699572] |
Chr1:156880026 [GRCh38]
Chr1:156849818 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.1251+7T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001900132] |
Chr1:156874633 [GRCh38]
Chr1:156844425 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.854C>T (p.Pro285Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001875758] |
Chr1:156873636 [GRCh38]
Chr1:156843428 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1804del (p.Arg602fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001884399] |
Chr1:156876570 [GRCh38]
Chr1:156846362 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.743G>A (p.Gly248Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001956746] |
Chr1:156871648 [GRCh38]
Chr1:156841440 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_149895434)_(156851434_?)dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] |
Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1 |
uncertain significance |
| NC_000001.10:g.(?_154141761)_(156851434_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV001990060] |
Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.649G>T (p.Val217Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001991334] |
Chr1:156868579 [GRCh38]
Chr1:156838371 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1039C>A (p.Arg347Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002035764] |
Chr1:156873821 [GRCh38]
Chr1:156843613 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.809A>G (p.Asp270Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001884102] |
Chr1:156871714 [GRCh38]
Chr1:156841506 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.438G>A (p.Ser146=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001885458] |
Chr1:156868113 [GRCh38]
Chr1:156837905 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1435A>C (p.Thr479Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001875512] |
Chr1:156875600 [GRCh38]
Chr1:156845392 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.850+1G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001916588] |
Chr1:156871756 [GRCh38]
Chr1:156841548 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2387G>A (p.Gly796Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002018855]|Inborn genetic diseases [RCV002458923] |
Chr1:156881638 [GRCh38]
Chr1:156851430 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_156837886)_(156843392_?)dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002017235] |
Chr1:156837886..156843392 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV001959396]|Inborn genetic diseases [RCV002425339] |
Chr1:156881483..156881484 [GRCh38]
Chr1:156851275..156851276 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1380T>A (p.Asp460Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001998491] |
Chr1:156875545 [GRCh38]
Chr1:156845337 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.138G>A (p.Ser46=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001918393] |
Chr1:156861072 [GRCh38]
Chr1:156830864 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.678C>T (p.Gly226=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001915718] |
Chr1:156868608 [GRCh38]
Chr1:156838400 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.574+12del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV001881131] |
Chr1:156868259 [GRCh38]
Chr1:156838051 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.717G>A (p.Met239Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001990235] |
Chr1:156868647 [GRCh38]
Chr1:156838439 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.61A>G (p.Ser21Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV001973449] |
Chr1:156860995 [GRCh38]
Chr1:156830787 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.95G>T (p.Gly32Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002011070] |
Chr1:156861029 [GRCh38]
Chr1:156830821 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1633-6A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002185626] |
Chr1:156876394 [GRCh38]
Chr1:156846186 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1650C>A (p.Ser550=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002210171] |
Chr1:156876417 [GRCh38]
Chr1:156846209 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.273G>C (p.Gly91=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002108696] |
Chr1:156864414 [GRCh38]
Chr1:156834206 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-19C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002125633] |
Chr1:156871604 [GRCh38]
Chr1:156841396 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.428+11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002127076] |
Chr1:156866989 [GRCh38]
Chr1:156836781 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-4C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002188899] |
Chr1:156874902 [GRCh38]
Chr1:156844694 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.360-5C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002108344]|not provided [RCV003992615] |
Chr1:156866905 [GRCh38]
Chr1:156836697 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.2282G>A (p.Arg761Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002104476]|not provided [RCV002261453] |
Chr1:156881533 [GRCh38]
Chr1:156851325 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.957C>A (p.Gly319=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002187983] |
Chr1:156873739 [GRCh38]
Chr1:156843531 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1803C>T (p.Leu601=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002185282] |
Chr1:156876570 [GRCh38]
Chr1:156846362 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.656delinsTT (p.Gly219fs) |
indel |
Hereditary insensitivity to pain with anhidrosis [RCV002211040] |
Chr1:156868586 [GRCh38]
Chr1:156838378 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1252-16C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002127915] |
Chr1:156874890 [GRCh38]
Chr1:156844682 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2220C>T (p.Ile740=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002166975] |
Chr1:156881471 [GRCh38]
Chr1:156851263 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+8G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002091036] |
Chr1:156875016 [GRCh38]
Chr1:156844808 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.240G>A (p.Gln80=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002110999] |
Chr1:156864381 [GRCh38]
Chr1:156834173 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1178-155A>G |
single nucleotide variant |
not provided [RCV002211118] |
Chr1:156874228 [GRCh38]
Chr1:156844020 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.1752C>A (p.Pro584=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002189822] |
Chr1:156876519 [GRCh38]
Chr1:156846311 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.428+19A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002191466] |
Chr1:156866997 [GRCh38]
Chr1:156836789 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.212+17C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002104788] |
Chr1:156861163 [GRCh38]
Chr1:156830955 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1059C>T (p.His353=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002165846] |
Chr1:156873841 [GRCh38]
Chr1:156843633 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-20C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002126821] |
Chr1:156875500 [GRCh38]
Chr1:156845292 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.360-6_360-3del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002170061] |
Chr1:156866901..156866904 [GRCh38]
Chr1:156836693..156836696 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1215C>T (p.Asp405=) |
single nucleotide variant |
not provided [RCV002211116] |
Chr1:156851304 [GRCh38]
Chr1:156821096 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1425C>T (p.Ser475=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002088728] |
Chr1:156875590 [GRCh38]
Chr1:156845382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+20dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002125870] |
Chr1:156861165..156861166 [GRCh38]
Chr1:156830957..156830958 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.359+7G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002165143] |
Chr1:156864806 [GRCh38]
Chr1:156834598 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.90T>G (p.Ser30=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002105948] |
Chr1:156861024 [GRCh38]
Chr1:156830816 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.480G>A (p.Gln160=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002084671] |
Chr1:156868155 [GRCh38]
Chr1:156837947 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1251+19G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002186725] |
Chr1:156874645 [GRCh38]
Chr1:156844437 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.876G>A (p.Thr292=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002105848] |
Chr1:156873658 [GRCh38]
Chr1:156843450 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-8G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002206224] |
Chr1:156879114 [GRCh38]
Chr1:156848906 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1177+11del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002111200] |
Chr1:156873969 [GRCh38]
Chr1:156843761 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.684C>T (p.Ile228=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002189470] |
Chr1:156868614 [GRCh38]
Chr1:156838406 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1722C>T (p.Arg574=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002207858] |
Chr1:156876489 [GRCh38]
Chr1:156846281 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002126146] |
Chr1:156876072 [GRCh38]
Chr1:156845864 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2328T>C (p.Asp776=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002208146] |
Chr1:156881579 [GRCh38]
Chr1:156851371 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2262A>G (p.Pro754=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002189073] |
Chr1:156881513 [GRCh38]
Chr1:156851305 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1362T>C (p.Ala454=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002190219] |
Chr1:156875527 [GRCh38]
Chr1:156845319 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.546C>G (p.Pro182=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002185463] |
Chr1:156868221 [GRCh38]
Chr1:156838013 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-6C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002210340] |
Chr1:156875514 [GRCh38]
Chr1:156845306 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-7C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002090017] |
Chr1:156874899 [GRCh38]
Chr1:156844691 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1746C>A (p.Gly582=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002087590] |
Chr1:156876513 [GRCh38]
Chr1:156846305 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.428+13G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002071795] |
Chr1:156866991 [GRCh38]
Chr1:156836783 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.507A>C (p.Gly169=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002080733] |
Chr1:156868182 [GRCh38]
Chr1:156837974 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2094C>T (p.Ser698=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002167121] |
Chr1:156880046 [GRCh38]
Chr1:156849838 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1633-12G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002174346]|not provided [RCV004711888] |
Chr1:156876388 [GRCh38]
Chr1:156846180 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-20C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002194784] |
Chr1:156871603 [GRCh38]
Chr1:156841395 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2181C>G (p.Pro727=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002132866] |
Chr1:156880133 [GRCh38]
Chr1:156849925 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1611C>T (p.Asp537=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002079803] |
Chr1:156876189 [GRCh38]
Chr1:156845981 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1860C>G (p.Gly620=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002096940] |
Chr1:156879176 [GRCh38]
Chr1:156848968 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1359G>C (p.Pro453=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002134591] |
Chr1:156875524 [GRCh38]
Chr1:156845316 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-18C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002116672] |
Chr1:156871605 [GRCh38]
Chr1:156841397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+5_717+9dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002115022] |
Chr1:156868649..156868650 [GRCh38]
Chr1:156838441..156838442 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.270G>C (p.Leu90=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002133188] |
Chr1:156864411 [GRCh38]
Chr1:156834203 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+15C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002076969] |
Chr1:156876225 [GRCh38]
Chr1:156846017 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1227G>A (p.Glu409=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002193635] |
Chr1:156874602 [GRCh38]
Chr1:156844394 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2106T>C (p.Arg702=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002105233] |
Chr1:156880058 [GRCh38]
Chr1:156849850 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1272G>C (p.Leu424=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002214627] |
Chr1:156874926 [GRCh38]
Chr1:156844718 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1551G>A (p.Gly517=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002197131] |
Chr1:156876129 [GRCh38]
Chr1:156845921 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1131C>T (p.Ala377=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002088927] |
Chr1:156873913 [GRCh38]
Chr1:156843705 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2091G>A (p.Glu697=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002094876] |
Chr1:156880043 [GRCh38]
Chr1:156849835 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-5C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002079510] |
Chr1:156864349 [GRCh38]
Chr1:156834141 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.702G>A (p.Gln234=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002090693] |
Chr1:156868632 [GRCh38]
Chr1:156838424 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+5G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002211041] |
Chr1:156868254 [GRCh38]
Chr1:156838046 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1887C>A (p.Ala629=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002213810] |
Chr1:156879203 [GRCh38]
Chr1:156848995 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1770G>A (p.Glu590=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002133068] |
Chr1:156876537 [GRCh38]
Chr1:156846329 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.771C>T (p.Asp257=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002184942] |
Chr1:156871676 [GRCh38]
Chr1:156841468 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.215A>G (p.Tyr72Cys) |
single nucleotide variant |
not provided [RCV002211117] |
Chr1:156864356 [GRCh38]
Chr1:156834148 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1479C>T (p.Asn493=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002079490] |
Chr1:156875644 [GRCh38]
Chr1:156845436 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.178C>A (p.His60Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002107917] |
Chr1:156861112 [GRCh38]
Chr1:156830904 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1515C>T (p.Ile505=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002134294] |
Chr1:156876093 [GRCh38]
Chr1:156845885 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.575-20C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002173704] |
Chr1:156868485 [GRCh38]
Chr1:156838277 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1434C>G (p.Pro478=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002094846] |
Chr1:156875599 [GRCh38]
Chr1:156845391 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3789G>A (p.Pro1263=) |
single nucleotide variant |
not provided [RCV002211115] |
Chr1:156840978 [GRCh38]
Chr1:156810770 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.861T>C (p.Ser287=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002146830] |
Chr1:156873643 [GRCh38]
Chr1:156843435 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.585G>T (p.Thr195=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002113717] |
Chr1:156868515 [GRCh38]
Chr1:156838307 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.639G>A (p.Leu213=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002207368] |
Chr1:156868569 [GRCh38]
Chr1:156838361 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.287+11C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002172664] |
Chr1:156864439 [GRCh38]
Chr1:156834231 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.606T>C (p.Asn202=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002214985] |
Chr1:156868536 [GRCh38]
Chr1:156838328 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1053C>G (p.Pro351=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002207529] |
Chr1:156873835 [GRCh38]
Chr1:156843627 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2085G>T (p.Pro695=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002079836] |
Chr1:156880037 [GRCh38]
Chr1:156849829 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1275C>T (p.Ala425=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002212028] |
Chr1:156874929 [GRCh38]
Chr1:156844721 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.348G>T (p.Arg116=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002212513] |
Chr1:156864788 [GRCh38]
Chr1:156834580 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.846C>T (p.Val282=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002172153] |
Chr1:156871751 [GRCh38]
Chr1:156841543 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1458C>T (p.Leu486=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002103506] |
Chr1:156875623 [GRCh38]
Chr1:156845415 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+16G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002098263] |
Chr1:156861162 [GRCh38]
Chr1:156830954 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002083674] |
Chr1:156875680 [GRCh38]
Chr1:156845472 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1002G>A (p.Glu334=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002083648] |
Chr1:156873784 [GRCh38]
Chr1:156843576 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1836T>C (p.Ala612=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002123857] |
Chr1:156879152 [GRCh38]
Chr1:156848944 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1833G>A (p.Leu611=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002118318] |
Chr1:156879149 [GRCh38]
Chr1:156848941 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-5C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002102492] |
Chr1:156868099 [GRCh38]
Chr1:156837891 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1113C>T (p.Ser371=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002102493] |
Chr1:156873895 [GRCh38]
Chr1:156843687 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1221G>A (p.Pro407=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002098770] |
Chr1:156874596 [GRCh38]
Chr1:156844388 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2370C>T (p.Val790=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002154864] |
Chr1:156881621 [GRCh38]
Chr1:156851413 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.873C>T (p.His291=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002136408] |
Chr1:156873655 [GRCh38]
Chr1:156843447 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002217929] |
Chr1:156864340 [GRCh38]
Chr1:156834132 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.575-5G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002144263] |
Chr1:156868500 [GRCh38]
Chr1:156838292 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1158C>T (p.Asn386=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002144269] |
Chr1:156873940 [GRCh38]
Chr1:156843732 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+15G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002123856] |
Chr1:156868662 [GRCh38]
Chr1:156838454 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+11G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002163686]|not provided [RCV004711882] |
Chr1:156875019 [GRCh38]
Chr1:156844811 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2206-5C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002102441] |
Chr1:156881452 [GRCh38]
Chr1:156851244 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2238G>A (p.Leu746=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002156591] |
Chr1:156881489 [GRCh38]
Chr1:156851281 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.543G>A (p.Gly181=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002154889] |
Chr1:156868218 [GRCh38]
Chr1:156838010 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+9C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002156915] |
Chr1:156879371 [GRCh38]
Chr1:156849163 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2100G>A (p.Leu700=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002155616] |
Chr1:156880052 [GRCh38]
Chr1:156849844 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.359+13A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002162618] |
Chr1:156864812 [GRCh38]
Chr1:156834604 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.576T>C (p.Gly192=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002103390] |
Chr1:156868506 [GRCh38]
Chr1:156838298 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1641G>A (p.Lys547=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002102021] |
Chr1:156876408 [GRCh38]
Chr1:156846200 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-3dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002122892] |
Chr1:156868095..156868096 [GRCh38]
Chr1:156837887..156837888 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.975C>T (p.Thr325=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002200526] |
Chr1:156873757 [GRCh38]
Chr1:156843549 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.432C>G (p.Val144=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002143213] |
Chr1:156868107 [GRCh38]
Chr1:156837899 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+10C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002161972] |
Chr1:156868657 [GRCh38]
Chr1:156838449 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.831T>G (p.Ser277=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002099010] |
Chr1:156871736 [GRCh38]
Chr1:156841528 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.660G>A (p.Arg220=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002178541] |
Chr1:156868590 [GRCh38]
Chr1:156838382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1959A>G (p.Thr653=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002180127] |
Chr1:156879275 [GRCh38]
Chr1:156849067 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.807C>T (p.Asn269=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002124133] |
Chr1:156871712 [GRCh38]
Chr1:156841504 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.960C>T (p.Ser320=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002117511] |
Chr1:156873742 [GRCh38]
Chr1:156843534 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1788C>T (p.Asp596=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002081237] |
Chr1:156876555 [GRCh38]
Chr1:156846347 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2343G>A (p.Leu781=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002201663] |
Chr1:156881594 [GRCh38]
Chr1:156851386 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1311T>C (p.Leu437=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002101944] |
Chr1:156874965 [GRCh38]
Chr1:156844757 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+13_574+17del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002121767] |
Chr1:156868260..156868264 [GRCh38]
Chr1:156838052..156838056 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.582C>T (p.Pro194=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002204166] |
Chr1:156868512 [GRCh38]
Chr1:156838304 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-10C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002118567] |
Chr1:156874896 [GRCh38]
Chr1:156844688 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-7C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002200871] |
Chr1:156868097 [GRCh38]
Chr1:156837889 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1080G>C (p.Thr360=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002199125] |
Chr1:156873862 [GRCh38]
Chr1:156843654 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-13G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002140386] |
Chr1:156864341 [GRCh38]
Chr1:156834133 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.33C>G (p.Gly11=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002121065] |
Chr1:156860967 [GRCh38]
Chr1:156830759 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1389C>A (p.Ala463=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002163092] |
Chr1:156875554 [GRCh38]
Chr1:156845346 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1596C>T (p.Leu532=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002101373] |
Chr1:156876174 [GRCh38]
Chr1:156845966 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1737C>T (p.Cys579=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002184780] |
Chr1:156876504 [GRCh38]
Chr1:156846296 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+18G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003122735] |
Chr1:156861164 [GRCh38]
Chr1:156830956 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3158A>G (p.Gln1053Arg) |
single nucleotide variant |
not specified [RCV004327288] |
Chr1:156842477 [GRCh38]
Chr1:156812269 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1945G>A (p.Gly649Ser) |
single nucleotide variant |
not specified [RCV004328140] |
Chr1:156845985 [GRCh38]
Chr1:156815777 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.758del (p.Asn253fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003230939] |
Chr1:156871662 [GRCh38]
Chr1:156841454 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1424C>G (p.Ser475Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003101462]|not provided [RCV002261917] |
Chr1:156875589 [GRCh38]
Chr1:156845381 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.879C>T (p.Phe293=) |
single nucleotide variant |
not provided [RCV002262252] |
Chr1:156851950 [GRCh38]
Chr1:156821742 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2140G>A (p.Gly714Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003236469] |
Chr1:156880092 [GRCh38]
Chr1:156849884 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.647A>G (p.Gln216Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003101494]|not specified [RCV002266299] |
Chr1:156868577 [GRCh38]
Chr1:156838369 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.789G>A (p.Pro263=) |
single nucleotide variant |
not provided [RCV002262253] |
Chr1:156852040 [GRCh38]
Chr1:156821832 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1077C>G (p.Tyr359Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002289279] |
Chr1:156873859 [GRCh38]
Chr1:156843651 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.2700T>G (p.Ser900=) |
single nucleotide variant |
not provided [RCV002262251] |
Chr1:156844499 [GRCh38]
Chr1:156814291 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2044C>T (p.Arg682Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002419686] |
Chr1:156879360 [GRCh38]
Chr1:156849152 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.377C>A (p.Ala126Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002351136] |
Chr1:156866927 [GRCh38]
Chr1:156836719 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1502-5C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002726608] |
Chr1:156876075 [GRCh38]
Chr1:156845867 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.732G>C (p.Leu244=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002991529] |
Chr1:156871637 [GRCh38]
Chr1:156841429 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1868G>T (p.Gly623Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002304149] |
Chr1:156879184 [GRCh38]
Chr1:156848976 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.913G>A (p.Val305Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002378769] |
Chr1:156873695 [GRCh38]
Chr1:156843487 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2011A>C (p.Met671Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003097410]|Inborn genetic diseases [RCV002416942] |
Chr1:156879327 [GRCh38]
Chr1:156849119 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1310T>G (p.Leu437Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002380581] |
Chr1:156874964 [GRCh38]
Chr1:156844756 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1675C>G (p.Arg559Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002395067] |
Chr1:156876442 [GRCh38]
Chr1:156846234 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.13G>A (p.Gly5Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002389246] |
Chr1:156860947 [GRCh38]
Chr1:156830739 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1523G>C (p.Arg508Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002389995] |
Chr1:156876101 [GRCh38]
Chr1:156845893 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2231del (p.Arg744fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003098720]|Inborn genetic diseases [RCV002425896] |
Chr1:156881482 [GRCh38]
Chr1:156851274 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.1651G>A (p.Glu551Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002401332] |
Chr1:156876418 [GRCh38]
Chr1:156846210 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1504G>T (p.Val502Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002389599] |
Chr1:156876082 [GRCh38]
Chr1:156845874 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.396G>C (p.Trp132Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003094465]|Inborn genetic diseases [RCV002375489] |
Chr1:156866946 [GRCh38]
Chr1:156836738 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.83T>G (p.Leu28Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002445831] |
Chr1:156861017 [GRCh38]
Chr1:156830809 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.616G>A (p.Asp206Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002353706] |
Chr1:156868546 [GRCh38]
Chr1:156838338 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.617A>T (p.Asp206Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003098158]|Inborn genetic diseases [RCV002353752] |
Chr1:156868547 [GRCh38]
Chr1:156838339 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.394T>C (p.Trp132Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003094452]|Inborn genetic diseases [RCV002375426] |
Chr1:156866944 [GRCh38]
Chr1:156836736 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2104C>T (p.Arg702Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003098605]|Inborn genetic diseases [RCV002423954] |
Chr1:156880056 [GRCh38]
Chr1:156849848 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.1742A>G (p.Glu581Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002295470] |
Chr1:156876509 [GRCh38]
Chr1:156846301 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1721G>A (p.Arg574His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003348841]|Inborn genetic diseases [RCV002414716]|not provided [RCV002473378] |
Chr1:156876488 [GRCh38]
Chr1:156846280 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.89C>A (p.Ser30Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002376320] |
Chr1:156861023 [GRCh38]
Chr1:156830815 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.58G>A (p.Gly20Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002355696]|not provided [RCV005424873] |
Chr1:156860992 [GRCh38]
Chr1:156830784 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.424G>A (p.Glu142Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003094607]|Inborn genetic diseases [RCV002329846] |
Chr1:156866974 [GRCh38]
Chr1:156836766 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.734C>T (p.Pro245Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002380239] |
Chr1:156871639 [GRCh38]
Chr1:156841431 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.884A>C (p.Glu295Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002373815] |
Chr1:156873666 [GRCh38]
Chr1:156843458 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2205+13C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002775775] |
Chr1:156880170 [GRCh38]
Chr1:156849962 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.56C>T (p.Ser19Phe) |
single nucleotide variant |
not provided [RCV002511597] |
Chr1:156858566 [GRCh38]
Chr1:156828358 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-452C>A |
single nucleotide variant |
not provided [RCV002511598] |
Chr1:156867652 [GRCh38]
Chr1:156837444 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.155G>A (p.Arg52Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002685651] |
Chr1:156861089 [GRCh38]
Chr1:156830881 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2047-13C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002967753] |
Chr1:156879986 [GRCh38]
Chr1:156849778 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1593C>A (p.Asn531Lys) |
single nucleotide variant |
not provided [RCV002511600] |
Chr1:156876171 [GRCh38]
Chr1:156845963 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1738_1777del (p.Thr580fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002857999] |
Chr1:156876502..156876541 [GRCh38]
Chr1:156846294..156846333 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.212+5G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003015690] |
Chr1:156861151 [GRCh38]
Chr1:156830943 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.237G>A (p.Leu79=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002837693] |
Chr1:156864378 [GRCh38]
Chr1:156834170 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.226C>T (p.Gln76Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002618849] |
Chr1:156864367 [GRCh38]
Chr1:156834159 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_014215.3(INSRR):c.535G>A (p.Val179Met) |
single nucleotide variant |
not specified [RCV004209981] |
Chr1:156853854 [GRCh38]
Chr1:156823646 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.130G>A (p.Gly44Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003076325]|not provided [RCV003443114] |
Chr1:156861064 [GRCh38]
Chr1:156830856 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1932G>A (p.Leu644=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002947751] |
Chr1:156879248 [GRCh38]
Chr1:156849040 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.294C>T (p.Ile98=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002618562] |
Chr1:156864734 [GRCh38]
Chr1:156834526 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3286G>A (p.Ala1096Thr) |
single nucleotide variant |
not specified [RCV004127864] |
Chr1:156842223 [GRCh38]
Chr1:156812015 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.213-7C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002997017] |
Chr1:156864347 [GRCh38]
Chr1:156834139 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2233G>T (p.Glu745Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002755377] |
Chr1:156881484 [GRCh38]
Chr1:156851276 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_014215.3(INSRR):c.2525C>T (p.Pro842Leu) |
single nucleotide variant |
not specified [RCV004193267] |
Chr1:156844756 [GRCh38]
Chr1:156814548 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1866G>C (p.Leu622=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002843466] |
Chr1:156879182 [GRCh38]
Chr1:156848974 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1883C>G (p.Pro628Arg) |
single nucleotide variant |
not specified [RCV004195046] |
Chr1:156846047 [GRCh38]
Chr1:156815839 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1091C>T (p.Ala364Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002881950] |
Chr1:156873873 [GRCh38]
Chr1:156843665 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1948G>T (p.Asp650Tyr) |
single nucleotide variant |
not specified [RCV004137650] |
Chr1:156845982 [GRCh38]
Chr1:156815774 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2148G>A (p.Val716=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002775660] |
Chr1:156880100 [GRCh38]
Chr1:156849892 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.201C>T (p.Asp67=) |
single nucleotide variant |
not provided [RCV002511596] |
Chr1:156854188 [GRCh38]
Chr1:156823980 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1747C>G (p.Arg583Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002907818] |
Chr1:156876514 [GRCh38]
Chr1:156846306 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.268C>T (p.Leu90=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002726716] |
Chr1:156864409 [GRCh38]
Chr1:156834201 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.621G>T (p.Val207=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002751499] |
Chr1:156868551 [GRCh38]
Chr1:156838343 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.446C>A (p.Pro149His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002903438]|Inborn genetic diseases [RCV003250608] |
Chr1:156868121 [GRCh38]
Chr1:156837913 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_014215.3(INSRR):c.524A>G (p.Glu175Gly) |
single nucleotide variant |
not specified [RCV004119910] |
Chr1:156853865 [GRCh38]
Chr1:156823657 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1465C>T (p.His489Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003097474] |
Chr1:156875630 [GRCh38]
Chr1:156845422 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.575-4C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003034019] |
Chr1:156868501 [GRCh38]
Chr1:156838293 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.211C>T (p.Leu71Phe) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003074805] |
Chr1:156861145 [GRCh38]
Chr1:156830937 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3188C>A (p.Thr1063Asn) |
single nucleotide variant |
not specified [RCV004136655] |
Chr1:156842447 [GRCh38]
Chr1:156812239 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.850+747_850+752del |
deletion |
not provided [RCV002511599] |
Chr1:156872497..156872502 [GRCh38]
Chr1:156842289..156842294 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.2206-12C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002726966] |
Chr1:156881445 [GRCh38]
Chr1:156851237 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1251+1G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002863761] |
Chr1:156874627 [GRCh38]
Chr1:156844419 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.914del (p.Val305fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002862737] |
Chr1:156873696 [GRCh38]
Chr1:156843488 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_014215.3(INSRR):c.3625G>A (p.Gly1209Arg) |
single nucleotide variant |
not specified [RCV004228886] |
Chr1:156841431 [GRCh38]
Chr1:156811223 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1251+15A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002618116] |
Chr1:156874641 [GRCh38]
Chr1:156844433 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.376G>A (p.Val126Met) |
single nucleotide variant |
not specified [RCV004203055] |
Chr1:156854013 [GRCh38]
Chr1:156823805 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1252-6C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002735258] |
Chr1:156874900 [GRCh38]
Chr1:156844692 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.726G>A (p.Gly242=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002927717] |
Chr1:156871631 [GRCh38]
Chr1:156841423 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.956G>C (p.Gly319Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002912646] |
Chr1:156873738 [GRCh38]
Chr1:156843530 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.598G>C (p.Val200Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002870006] |
Chr1:156868528 [GRCh38]
Chr1:156838320 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1141T>C (p.Phe381Leu) |
single nucleotide variant |
not specified [RCV004093286] |
Chr1:156851378 [GRCh38]
Chr1:156821170 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2247A>T (p.Pro749=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003003149] |
Chr1:156881498 [GRCh38]
Chr1:156851290 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-4C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002923282] |
Chr1:156868100 [GRCh38]
Chr1:156837892 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1729G>A (p.Gly577Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002886362] |
Chr1:156876496 [GRCh38]
Chr1:156846288 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.96C>T (p.Gly32=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002871423] |
Chr1:156861030 [GRCh38]
Chr1:156830822 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1438G>A (p.Glu480Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002924866] |
Chr1:156875603 [GRCh38]
Chr1:156845395 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1806-16C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002886403] |
Chr1:156879106 [GRCh38]
Chr1:156848898 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.2887G>A (p.Ala963Thr) |
single nucleotide variant |
not specified [RCV004086098] |
Chr1:156843436 [GRCh38]
Chr1:156813228 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1651G>C (p.Glu551Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002914057] |
Chr1:156876418 [GRCh38]
Chr1:156846210 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2047-20G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002952860] |
Chr1:156879979 [GRCh38]
Chr1:156849771 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2217C>G (p.Cys739Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003080780] |
Chr1:156881468 [GRCh38]
Chr1:156851260 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1177+5_1177+12dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002796756] |
Chr1:156873963..156873964 [GRCh38]
Chr1:156843755..156843756 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1741G>T (p.Glu581Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002923641] |
Chr1:156876508 [GRCh38]
Chr1:156846300 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1456C>A (p.Leu486Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002591919]|Inborn genetic diseases [RCV002591920] |
Chr1:156875621 [GRCh38]
Chr1:156845413 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.764C>A (p.Thr255Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002795723] |
Chr1:156871669 [GRCh38]
Chr1:156841461 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.359+10G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003020123] |
Chr1:156864809 [GRCh38]
Chr1:156834601 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1876C>T (p.Gln626Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003077436] |
Chr1:156879192 [GRCh38]
Chr1:156848984 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.952A>G (p.Asn318Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002780512]|Inborn genetic diseases [RCV004958750] |
Chr1:156873734 [GRCh38]
Chr1:156843526 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2375T>C (p.Leu792Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002886620] |
Chr1:156881626 [GRCh38]
Chr1:156851418 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2249G>A (p.Arg750His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003053318] |
Chr1:156881500 [GRCh38]
Chr1:156851292 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1796G>A (p.Arg599Gln) |
single nucleotide variant |
not specified [RCV004213378] |
Chr1:156846533 [GRCh38]
Chr1:156816325 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1869T>G (p.Gly623=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003019720] |
Chr1:156879185 [GRCh38]
Chr1:156848977 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.406C>A (p.Gln136Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002823200] |
Chr1:156866956 [GRCh38]
Chr1:156836748 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354+7C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002979097] |
Chr1:156875015 [GRCh38]
Chr1:156844807 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.2468C>T (p.Ala823Val) |
single nucleotide variant |
not specified [RCV004116361] |
Chr1:156844813 [GRCh38]
Chr1:156814605 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1714A>G (p.Ile572Val) |
single nucleotide variant |
not provided [RCV003036951] |
Chr1:156876481 [GRCh38]
Chr1:156846273 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.477A>G (p.Leu159=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002926578] |
Chr1:156868152 [GRCh38]
Chr1:156837944 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.747G>C (p.Leu249=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002619868] |
Chr1:156871652 [GRCh38]
Chr1:156841444 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3538G>A (p.Val1180Met) |
single nucleotide variant |
not specified [RCV004192977] |
Chr1:156841518 [GRCh38]
Chr1:156811310 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2230C>T (p.Arg744Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002910092]|Inborn genetic diseases [RCV005382496] |
Chr1:156881481 [GRCh38]
Chr1:156851273 [GRCh37]
Chr1:1q23.1 |
likely benign|uncertain significance |
| NM_002529.4(NTRK1):c.611C>G (p.Ser204Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003038948] |
Chr1:156868541 [GRCh38]
Chr1:156838333 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1633-13C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002948686] |
Chr1:156876387 [GRCh38]
Chr1:156846179 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1842G>A (p.Gly614=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002621900] |
Chr1:156879158 [GRCh38]
Chr1:156848950 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+16G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002636638] |
Chr1:156876226 [GRCh38]
Chr1:156846018 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002620548] |
Chr1:156868090 [GRCh38]
Chr1:156837882 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1043C>T (p.Thr348Met) |
single nucleotide variant |
not specified [RCV004150472] |
Chr1:156851687 [GRCh38]
Chr1:156821479 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.945_949del (p.Trp315fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002592319]|not provided [RCV004593162] |
Chr1:156873727..156873731 [GRCh38]
Chr1:156843519..156843523 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.717+15G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002949409] |
Chr1:156868662 [GRCh38]
Chr1:156838454 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.288C>A (p.Leu96=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002620579] |
Chr1:156864728 [GRCh38]
Chr1:156834520 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.428+11dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003020568] |
Chr1:156866984..156866985 [GRCh38]
Chr1:156836776..156836777 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_014215.3(INSRR):c.2423G>T (p.Arg808Leu) |
single nucleotide variant |
not specified [RCV004161984] |
Chr1:156845090 [GRCh38]
Chr1:156814882 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.553C>T (p.His185Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002820534] |
Chr1:156868228 [GRCh38]
Chr1:156838020 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1979G>A (p.Gly660Asp) |
single nucleotide variant |
not specified [RCV004130220] |
Chr1:156845814 [GRCh38]
Chr1:156815606 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.999G>A (p.Leu333=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002797112] |
Chr1:156873781 [GRCh38]
Chr1:156843573 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003081174] |
Chr1:156861157 [GRCh38]
Chr1:156830949 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.470G>T (p.Arg157Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002761518] |
Chr1:156868145 [GRCh38]
Chr1:156837937 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1043C>A (p.Thr348Lys) |
single nucleotide variant |
not specified [RCV004228055] |
Chr1:156851687 [GRCh38]
Chr1:156821479 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1388G>T (p.Arg463Leu) |
single nucleotide variant |
not specified [RCV004240531] |
Chr1:156849302 [GRCh38]
Chr1:156819094 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2362C>A (p.His788Asn) |
single nucleotide variant |
not specified [RCV004076063] |
Chr1:156845151 [GRCh38]
Chr1:156814943 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.729T>A (p.Gly243=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002621056] |
Chr1:156871634 [GRCh38]
Chr1:156841426 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1418G>T (p.Gly473Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002737409] |
Chr1:156875583 [GRCh38]
Chr1:156845375 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.272G>A (p.Gly91Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002575141] |
Chr1:156864413 [GRCh38]
Chr1:156834205 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1326T>C (p.Cys442=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002828335] |
Chr1:156874980 [GRCh38]
Chr1:156844772 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.29G>A (p.Gly10Glu) |
single nucleotide variant |
not specified [RCV004145794] |
Chr1:156858593 [GRCh38]
Chr1:156828385 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354+7C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002932755] |
Chr1:156875015 [GRCh38]
Chr1:156844807 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1254C>A (p.Val418=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002740936] |
Chr1:156874908 [GRCh38]
Chr1:156844700 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2075G>A (p.Arg692His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003085895] |
Chr1:156880027 [GRCh38]
Chr1:156849819 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1713C>A (p.His571Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002745771] |
Chr1:156876480 [GRCh38]
Chr1:156846272 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1623G>T (p.Val541=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002958743] |
Chr1:156876201 [GRCh38]
Chr1:156845993 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.2709C>G (p.Asp903Glu) |
single nucleotide variant |
not specified [RCV004072970] |
Chr1:156844490 [GRCh38]
Chr1:156814282 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.310C>T (p.Arg104Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002667360] |
Chr1:156864750 [GRCh38]
Chr1:156834542 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.171T>G (p.Asp57Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002627242] |
Chr1:156861105 [GRCh38]
Chr1:156830897 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2477C>T (p.Ala826Val) |
single nucleotide variant |
not specified [RCV004126766] |
Chr1:156844804 [GRCh38]
Chr1:156814596 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1572C>T (p.Val524=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002828965] |
Chr1:156876150 [GRCh38]
Chr1:156845942 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+1G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002574813] |
Chr1:156868250 [GRCh38]
Chr1:156838042 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1284_1291dup (p.Phe431fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003006207] |
Chr1:156874937..156874938 [GRCh38]
Chr1:156844729..156844730 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1326T>G (p.Cys442Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003040802] |
Chr1:156874980 [GRCh38]
Chr1:156844772 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1311T>A (p.Leu437=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002851337] |
Chr1:156874965 [GRCh38]
Chr1:156844757 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1843G>T (p.Glu615Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002664188] |
Chr1:156879159 [GRCh38]
Chr1:156848951 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_014215.3(INSRR):c.2504G>T (p.Arg835Leu) |
single nucleotide variant |
not specified [RCV004146336] |
Chr1:156844777 [GRCh38]
Chr1:156814569 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1730_1736dup (p.Cys579fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002852594] |
Chr1:156876495..156876496 [GRCh38]
Chr1:156846287..156846288 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1632+14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002872157] |
Chr1:156876224 [GRCh38]
Chr1:156846016 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1848T>C (p.Asp616=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002740588] |
Chr1:156879164 [GRCh38]
Chr1:156848956 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1671C>T (p.Phe557=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002786695] |
Chr1:156876438 [GRCh38]
Chr1:156846230 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.123C>T (p.Cys41=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002700417] |
Chr1:156861057 [GRCh38]
Chr1:156830849 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.51G>A (p.Ala17=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002663511] |
Chr1:156860985 [GRCh38]
Chr1:156830777 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.274G>T (p.Glu92Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003025988] |
Chr1:156864415 [GRCh38]
Chr1:156834207 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1519C>T (p.Arg507Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002932262] |
Chr1:156876097 [GRCh38]
Chr1:156845889 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3805C>T (p.Arg1269Trp) |
single nucleotide variant |
not specified [RCV004207412] |
Chr1:156840962 [GRCh38]
Chr1:156810754 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1632+21del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV002917590] |
Chr1:156876226 [GRCh38]
Chr1:156846018 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.897G>C (p.Trp299Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002595513] |
Chr1:156873679 [GRCh38]
Chr1:156843471 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2205+3C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002574566] |
Chr1:156880160 [GRCh38]
Chr1:156849952 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.360-6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002876595] |
Chr1:156866904 [GRCh38]
Chr1:156836696 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1608G>A (p.Gln536=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002625055] |
Chr1:156876186 [GRCh38]
Chr1:156845978 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1025_1041dup (p.Leu348fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003042069] |
Chr1:156873804..156873805 [GRCh38]
Chr1:156843596..156843597 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.575-8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002700134] |
Chr1:156868497 [GRCh38]
Chr1:156838289 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2112C>T (p.Phe704=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002876116] |
Chr1:156880064 [GRCh38]
Chr1:156849856 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1555G>A (p.Gly519Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003042129] |
Chr1:156876133 [GRCh38]
Chr1:156845925 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.574+17G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003082415] |
Chr1:156868266 [GRCh38]
Chr1:156838058 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.740T>C (p.Leu247Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002666789] |
Chr1:156871645 [GRCh38]
Chr1:156841437 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.447_450dup (p.His151fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003084849] |
Chr1:156868121..156868122 [GRCh38]
Chr1:156837913..156837914 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1519_1531dup (p.Val511fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002871826] |
Chr1:156876095..156876096 [GRCh38]
Chr1:156845887..156845888 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_014215.3(INSRR):c.917C>G (p.Ser306Cys) |
single nucleotide variant |
not specified [RCV004165304] |
Chr1:156851912 [GRCh38]
Chr1:156821704 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3751C>T (p.Arg1251Trp) |
single nucleotide variant |
not specified [RCV004242829] |
Chr1:156841016 [GRCh38]
Chr1:156810808 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1736C>G (p.Thr579Arg) |
single nucleotide variant |
not specified [RCV004074060] |
Chr1:156846593 [GRCh38]
Chr1:156816385 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.429-16C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002626203] |
Chr1:156868088 [GRCh38]
Chr1:156837880 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1079C>A (p.Thr360Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002805256] |
Chr1:156873861 [GRCh38]
Chr1:156843653 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.621G>C (p.Val207=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002872065] |
Chr1:156868551 [GRCh38]
Chr1:156838343 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1445A>G (p.Lys482Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003083832] |
Chr1:156875610 [GRCh38]
Chr1:156845402 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2277C>T (p.Ile759=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002623722] |
Chr1:156881528 [GRCh38]
Chr1:156851320 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.869T>G (p.Leu290Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002788136] |
Chr1:156873651 [GRCh38]
Chr1:156843443 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.145C>G (p.Arg49Gly) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003083404] |
Chr1:156861079 [GRCh38]
Chr1:156830871 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.210G>A (p.Glu70=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002806600] |
Chr1:156861144 [GRCh38]
Chr1:156830936 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002941889] |
Chr1:156874897 [GRCh38]
Chr1:156844689 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-18C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002651891] |
Chr1:156871605 [GRCh38]
Chr1:156841397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.600G>A (p.Val200=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002602806] |
Chr1:156868530 [GRCh38]
Chr1:156838322 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.140del (p.Gly47fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003065325] |
Chr1:156861072 [GRCh38]
Chr1:156830864 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.496G>A (p.Gly166Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002601037]|not provided [RCV003409883] |
Chr1:156868171 [GRCh38]
Chr1:156837963 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.990T>G (p.Thr330=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002601919]|not provided [RCV004711922] |
Chr1:156873772 [GRCh38]
Chr1:156843564 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-3C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002942072] |
Chr1:156876077 [GRCh38]
Chr1:156845869 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1207A>T (p.Thr403Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002633069] |
Chr1:156874582 [GRCh38]
Chr1:156844374 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1961G>C (p.Arg654Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002716418] |
Chr1:156879277 [GRCh38]
Chr1:156849069 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.852C>T (p.Phe284=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002833375] |
Chr1:156873634 [GRCh38]
Chr1:156843426 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.472T>C (p.Trp158Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002649844] |
Chr1:156868147 [GRCh38]
Chr1:156837939 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.990T>C (p.Thr330=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002645952] |
Chr1:156873772 [GRCh38]
Chr1:156843564 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1752C>T (p.Pro584=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003089373]|not specified [RCV005406585] |
Chr1:156876519 [GRCh38]
Chr1:156846311 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3470G>T (p.Arg1157Leu) |
single nucleotide variant |
not specified [RCV004100048] |
Chr1:156841722 [GRCh38]
Chr1:156811514 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3736A>T (p.Ile1246Leu) |
single nucleotide variant |
not specified [RCV004177362] |
Chr1:156841031 [GRCh38]
Chr1:156810823 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1687C>G (p.Leu563Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002833756] |
Chr1:156876454 [GRCh38]
Chr1:156846246 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2315A>G (p.His772Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002895894] |
Chr1:156881566 [GRCh38]
Chr1:156851358 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.935C>T (p.Ser312Phe) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002628142] |
Chr1:156873717 [GRCh38]
Chr1:156843509 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3748C>A (p.Leu1250Met) |
single nucleotide variant |
not specified [RCV004080212] |
Chr1:156841019 [GRCh38]
Chr1:156810811 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.532C>G (p.His178Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002809939] |
Chr1:156868207 [GRCh38]
Chr1:156837999 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.369C>T (p.Ser123=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003027690] |
Chr1:156866919 [GRCh38]
Chr1:156836711 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+13C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003011416] |
Chr1:156861159 [GRCh38]
Chr1:156830951 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.127C>T (p.Arg43Cys) |
single nucleotide variant |
not specified [RCV004212282] |
Chr1:156854262 [GRCh38]
Chr1:156824054 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2088del (p.Glu697fs) |
deletion |
Inborn genetic diseases [RCV002919899] |
Chr1:156880038 [GRCh38]
Chr1:156849830 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2043C>T (p.Tyr681=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003086336] |
Chr1:156879359 [GRCh38]
Chr1:156849151 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.190G>T (p.Gly64Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002833697] |
Chr1:156861124 [GRCh38]
Chr1:156830916 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1046A>G (p.Asn349Ser) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002647736] |
Chr1:156873828 [GRCh38]
Chr1:156843620 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2503C>T (p.Arg835Cys) |
single nucleotide variant |
not specified [RCV004165857] |
Chr1:156844778 [GRCh38]
Chr1:156814570 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1633-19C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003091120] |
Chr1:156876381 [GRCh38]
Chr1:156846173 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+12C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002962667] |
Chr1:156876222 [GRCh38]
Chr1:156846014 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1251+1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002770736] |
Chr1:156874627 [GRCh38]
Chr1:156844419 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1124T>C (p.Met375Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003064391] |
Chr1:156873906 [GRCh38]
Chr1:156843698 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2041T>C (p.Tyr681His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003009737] |
Chr1:156879357 [GRCh38]
Chr1:156849149 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1632+16G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002938866] |
Chr1:156876226 [GRCh38]
Chr1:156846018 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.850+18C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002922620] |
Chr1:156871773 [GRCh38]
Chr1:156841565 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.300G>A (p.Lys100=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002671598] |
Chr1:156864740 [GRCh38]
Chr1:156834532 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1314G>T (p.Val438=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002811188] |
Chr1:156874968 [GRCh38]
Chr1:156844760 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+18G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002647820] |
Chr1:156876228 [GRCh38]
Chr1:156846020 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1796_1799dup (p.Phe600fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002810028] |
Chr1:156876562..156876563 [GRCh38]
Chr1:156846354..156846355 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1627G>A (p.Val543Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003061138] |
Chr1:156876205 [GRCh38]
Chr1:156845997 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.428+13G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002629109] |
Chr1:156866991 [GRCh38]
Chr1:156836783 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.547G>A (p.Val183Met) |
single nucleotide variant |
not specified [RCV004119911] |
Chr1:156853842 [GRCh38]
Chr1:156823634 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1566G>A (p.Gly522=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002900624] |
Chr1:156876144 [GRCh38]
Chr1:156845936 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.2659T>G (p.Ser887Ala) |
single nucleotide variant |
not specified [RCV004133191] |
Chr1:156844540 [GRCh38]
Chr1:156814332 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1284C>T (p.Ala428=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002988474] |
Chr1:156874938 [GRCh38]
Chr1:156844730 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.922C>T (p.Gln308Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002962120] |
Chr1:156873704 [GRCh38]
Chr1:156843496 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.108C>T (p.Cys36=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002632564] |
Chr1:156861042 [GRCh38]
Chr1:156830834 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.537G>A (p.Gly179=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003031475] |
Chr1:156868212 [GRCh38]
Chr1:156838004 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.193G>C (p.Ala65Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002834458] |
Chr1:156861127 [GRCh38]
Chr1:156830919 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2360C>T (p.Ala787Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002600014] |
Chr1:156881611 [GRCh38]
Chr1:156851403 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.407G>A (p.Arg136His) |
single nucleotide variant |
not specified [RCV004090825] |
Chr1:156853982 [GRCh38]
Chr1:156823774 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2104dup (p.Arg702fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV002634316] |
Chr1:156880054..156880055 [GRCh38]
Chr1:156849846..156849847 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1629C>A (p.Val543=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003093355] |
Chr1:156876207 [GRCh38]
Chr1:156845999 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1341G>C (p.Lys447Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002633590]|Inborn genetic diseases [RCV004070757] |
Chr1:156874995 [GRCh38]
Chr1:156844787 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.992G>T (p.Gly331Val) |
single nucleotide variant |
not specified [RCV004224449] |
Chr1:156851738 [GRCh38]
Chr1:156821530 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.961G>A (p.Val321Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002603750]|not provided [RCV003222459] |
Chr1:156873743 [GRCh38]
Chr1:156843535 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1040_1041delinsCT (p.Arg347Pro) |
indel |
not provided [RCV003129518] |
Chr1:156873822..156873823 [GRCh38]
Chr1:156843614..156843615 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2086G>A (p.Gly696Ser) |
single nucleotide variant |
not specified [RCV004222390] |
Chr1:156845707 [GRCh38]
Chr1:156815499 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2284G>C (p.Gly762Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003093307]|Inborn genetic diseases [RCV005377264] |
Chr1:156881535 [GRCh38]
Chr1:156851327 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3880G>T (p.Gly1294Cys) |
single nucleotide variant |
not specified [RCV004228345] |
Chr1:156840887 [GRCh38]
Chr1:156810679 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.346C>T (p.Arg116Trp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002635696] |
Chr1:156864786 [GRCh38]
Chr1:156834578 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.231_232delinsTT (p.Gln77_His78delinsHisTyr) |
indel |
Hereditary insensitivity to pain with anhidrosis [RCV002582776] |
Chr1:156864372..156864373 [GRCh38]
Chr1:156834164..156834165 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.977G>C (p.Ser326Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003051817] |
Chr1:156873759 [GRCh38]
Chr1:156843551 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2035G>A (p.Asp679Asn) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002676773] |
Chr1:156879351 [GRCh38]
Chr1:156849143 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2243G>T (p.Arg748Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003069423]|not provided [RCV003149049] |
Chr1:156881494 [GRCh38]
Chr1:156851286 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.116C>T (p.Ala39Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002603136] |
Chr1:156861050 [GRCh38]
Chr1:156830842 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2128G>A (p.Val710Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003051173] |
Chr1:156880080 [GRCh38]
Chr1:156849872 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1214G>A (p.Gly405Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003073240] |
Chr1:156874589 [GRCh38]
Chr1:156844381 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.271G>C (p.Gly91Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002653816] |
Chr1:156864412 [GRCh38]
Chr1:156834204 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.24G>T (p.Gly8=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003052086] |
Chr1:156860958 [GRCh38]
Chr1:156830750 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1710_1738del (p.Gln570fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003069132] |
Chr1:156876475..156876503 [GRCh38]
Chr1:156846267..156846295 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.2224C>A (p.Gln742Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003071399]|Inborn genetic diseases [RCV003377858] |
Chr1:156881475 [GRCh38]
Chr1:156851267 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1009G>C (p.Ala337Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002588439] |
Chr1:156873791 [GRCh38]
Chr1:156843583 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.748C>T (p.Arg250Cys) |
single nucleotide variant |
not specified [RCV004075106] |
Chr1:156852081 [GRCh38]
Chr1:156821873 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.188C>G (p.Pro63Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002611050] |
Chr1:156861122 [GRCh38]
Chr1:156830914 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2089G>A (p.Glu697Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002611301] |
Chr1:156880041 [GRCh38]
Chr1:156849833 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1706_1707dup (p.Gln570fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003069946] |
Chr1:156876471..156876472 [GRCh38]
Chr1:156846263..156846264 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1252-15C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003070022] |
Chr1:156874891 [GRCh38]
Chr1:156844683 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+18A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003093211] |
Chr1:156875026 [GRCh38]
Chr1:156844818 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-12C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002612229] |
Chr1:156879987 [GRCh38]
Chr1:156849779 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.564T>C (p.Asn188=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV002587832] |
Chr1:156868239 [GRCh38]
Chr1:156838031 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.572G>T (p.Cys191Phe) |
single nucleotide variant |
Ovarian cancer [RCV003154780] |
Chr1:156868247 [GRCh38]
Chr1:156838039 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1828C>T (p.Leu610=) |
single nucleotide variant |
Ovarian cancer [RCV003154777] |
Chr1:156879144 [GRCh38]
Chr1:156848936 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1592A>G (p.Asn531Ser) |
single nucleotide variant |
Ovarian cancer [RCV003154733] |
Chr1:156876170 [GRCh38]
Chr1:156845962 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.274G>A (p.Glu92Lys) |
single nucleotide variant |
not provided [RCV004781259] |
Chr1:156864415 [GRCh38]
Chr1:156834207 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2232T>G (p.Arg744=) |
single nucleotide variant |
not provided [RCV003222643] |
Chr1:156881483 [GRCh38]
Chr1:156851275 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.818G>A (p.Arg273His) |
single nucleotide variant |
not specified [RCV004256248] |
Chr1:156852011 [GRCh38]
Chr1:156821803 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2023A>G (p.Ile675Val) |
single nucleotide variant |
not provided [RCV003222642] |
Chr1:156879339 [GRCh38]
Chr1:156849131 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3601G>T (p.Val1201Leu) |
single nucleotide variant |
not specified [RCV004285334] |
Chr1:156841455 [GRCh38]
Chr1:156811247 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1741del (p.Glu581fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003226691] |
Chr1:156876508 [GRCh38]
Chr1:156846300 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2319C>T (p.Ser773=) |
single nucleotide variant |
not provided [RCV003222644] |
Chr1:156881570 [GRCh38]
Chr1:156851362 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.380C>A (p.Ala127Glu) |
single nucleotide variant |
not provided [RCV003334110] |
Chr1:156854009 [GRCh38]
Chr1:156823801 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV003329522] |
Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.574+2T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003340887] |
Chr1:156868251 [GRCh38]
Chr1:156838043 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.1006G>A (p.Asp336Asn) |
single nucleotide variant |
not specified [RCV004359441] |
Chr1:156851724 [GRCh38]
Chr1:156821516 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2515C>A (p.Pro839Thr) |
single nucleotide variant |
not specified [RCV004352216] |
Chr1:156844766 [GRCh38]
Chr1:156814558 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3190C>T (p.Arg1064Cys) |
single nucleotide variant |
not specified [RCV004339550] |
Chr1:156842445 [GRCh38]
Chr1:156812237 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1405A>G (p.Met469Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003343367] |
Chr1:156875570 [GRCh38]
Chr1:156845362 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.664C>G (p.Leu222Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003374769] |
Chr1:156868594 [GRCh38]
Chr1:156838386 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.767G>A (p.Ser256Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003349350] |
Chr1:156871672 [GRCh38]
Chr1:156841464 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.195A>G (p.Ala65=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625644] |
Chr1:156861129 [GRCh38]
Chr1:156830921 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+20G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003875007] |
Chr1:156875028 [GRCh38]
Chr1:156844820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2340G>A (p.Arg780=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625015] |
Chr1:156881591 [GRCh38]
Chr1:156851383 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.750C>A (p.Thr250=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625294] |
Chr1:156871655 [GRCh38]
Chr1:156841447 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.579G>T (p.Val193=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625302] |
Chr1:156868509 [GRCh38]
Chr1:156838301 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.634C>T (p.Leu212=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625886] |
Chr1:156868564 [GRCh38]
Chr1:156838356 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.428+8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003623935] |
Chr1:156866986 [GRCh38]
Chr1:156836778 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+19C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625045] |
Chr1:156879381 [GRCh38]
Chr1:156849173 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-11C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625050] |
Chr1:156879111 [GRCh38]
Chr1:156848903 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1543del (p.Glu515fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003625696] |
Chr1:156876119 [GRCh38]
Chr1:156845911 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.429-7_429-6insT |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV003512362] |
Chr1:156868097..156868098 [GRCh38]
Chr1:156837889..156837890 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1662G>T (p.Arg554=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512420] |
Chr1:156876429 [GRCh38]
Chr1:156846221 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+14C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624031] |
Chr1:156868661 [GRCh38]
Chr1:156838453 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1377G>A (p.Glu459=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625076] |
Chr1:156875542 [GRCh38]
Chr1:156845334 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1261G>A (p.Ala421Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512494] |
Chr1:156874915 [GRCh38]
Chr1:156844707 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.212+2T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003623941] |
Chr1:156861148 [GRCh38]
Chr1:156830940 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.718-18C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625096] |
Chr1:156871605 [GRCh38]
Chr1:156841397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1593C>T (p.Asn531=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625692] |
Chr1:156876171 [GRCh38]
Chr1:156845963 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.780G>A (p.Arg260=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624013] |
Chr1:156871685 [GRCh38]
Chr1:156841477 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-9G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624044] |
Chr1:156868095 [GRCh38]
Chr1:156837887 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624057] |
Chr1:156868655 [GRCh38]
Chr1:156838447 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.475C>T (p.Leu159=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625113] |
Chr1:156868150 [GRCh38]
Chr1:156837942 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1509C>A (p.His503Gln) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625115] |
Chr1:156876087 [GRCh38]
Chr1:156845879 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.288-11C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625125] |
Chr1:156864717 [GRCh38]
Chr1:156834509 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.126_127dup (p.His43fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003625407] |
Chr1:156861056..156861057 [GRCh38]
Chr1:156830848..156830849 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.438G>T (p.Ser146=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624063] |
Chr1:156868113 [GRCh38]
Chr1:156837905 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1659T>C (p.Ala553=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624089] |
Chr1:156876426 [GRCh38]
Chr1:156846218 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1095C>T (p.Asn365=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624148] |
Chr1:156873877 [GRCh38]
Chr1:156843669 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1647G>C (p.Ala549=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624644] |
Chr1:156876414 [GRCh38]
Chr1:156846206 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-7C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624645] |
Chr1:156876073 [GRCh38]
Chr1:156845865 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2205+18G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624145] |
Chr1:156880175 [GRCh38]
Chr1:156849967 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1293C>T (p.Phe431=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625147] |
Chr1:156874947 [GRCh38]
Chr1:156844739 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.235C>T (p.Leu79=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625153] |
Chr1:156864376 [GRCh38]
Chr1:156834168 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.60C>A (p.Gly20=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625462] |
Chr1:156860994 [GRCh38]
Chr1:156830786 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+15G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625697] |
Chr1:156861161 [GRCh38]
Chr1:156830953 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.447T>C (p.Pro149=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624656] |
Chr1:156868122 [GRCh38]
Chr1:156837914 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-797C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625486] |
Chr1:156872836 [GRCh38]
Chr1:156842628 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.906C>A (p.Pro302=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624239] |
Chr1:156873688 [GRCh38]
Chr1:156843480 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.850+17G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624261] |
Chr1:156871772 [GRCh38]
Chr1:156841564 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-16T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624310] |
Chr1:156873617 [GRCh38]
Chr1:156843409 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1767dup (p.Glu590Ter) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003624706] |
Chr1:156876531..156876532 [GRCh38]
Chr1:156846323..156846324 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.105C>A (p.Pro35=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624693] |
Chr1:156861039 [GRCh38]
Chr1:156830831 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.390C>T (p.Leu130=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625185] |
Chr1:156866940 [GRCh38]
Chr1:156836732 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1875G>A (p.Gly625=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625187] |
Chr1:156879191 [GRCh38]
Chr1:156848983 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2205+19T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003623912] |
Chr1:156880176 [GRCh38]
Chr1:156849968 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-14_1252-13del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003625494] |
Chr1:156874892..156874893 [GRCh38]
Chr1:156844684..156844685 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-797C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625496] |
Chr1:156872836 [GRCh38]
Chr1:156842628 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1428G>C (p.Leu476=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625498] |
Chr1:156875593 [GRCh38]
Chr1:156845385 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1083G>A (p.Leu361=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625502] |
Chr1:156873865 [GRCh38]
Chr1:156843657 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1467C>T (p.His489=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625760] |
Chr1:156875632 [GRCh38]
Chr1:156845424 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-18CT[2] |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV003624001] |
Chr1:156871605..156871606 [GRCh38]
Chr1:156841397..156841398 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-15T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003623985] |
Chr1:156876065 [GRCh38]
Chr1:156845857 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-16T>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624316] |
Chr1:156873617 [GRCh38]
Chr1:156843409 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1743G>A (p.Glu581=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624335] |
Chr1:156876510 [GRCh38]
Chr1:156846302 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+20A>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624386] |
Chr1:156879382 [GRCh38]
Chr1:156849174 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805+13G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624360] |
Chr1:156876585 [GRCh38]
Chr1:156846377 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2056C>T (p.Arg686Cys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624395] |
Chr1:156880008 [GRCh38]
Chr1:156849800 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1806-19C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624719] |
Chr1:156879103 [GRCh38]
Chr1:156848895 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1177+16T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624725] |
Chr1:156873975 [GRCh38]
Chr1:156843767 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2274C>G (p.Ala758=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624742] |
Chr1:156881525 [GRCh38]
Chr1:156851317 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-9C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624757] |
Chr1:156875511 [GRCh38]
Chr1:156845303 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1434C>T (p.Pro478=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624799] |
Chr1:156875599 [GRCh38]
Chr1:156845391 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+19del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003624134] |
Chr1:156861164 [GRCh38]
Chr1:156830956 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624139] |
Chr1:156874892 [GRCh38]
Chr1:156844684 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2059_2086del (p.Thr687fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003625519] |
Chr1:156880006..156880033 [GRCh38]
Chr1:156849798..156849825 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.648G>A (p.Gln216=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625523] |
Chr1:156868578 [GRCh38]
Chr1:156838370 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2358G>A (p.Gln786=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625794] |
Chr1:156881609 [GRCh38]
Chr1:156851401 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2163C>T (p.Phe721=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624032] |
Chr1:156880115 [GRCh38]
Chr1:156849907 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.612G>C (p.Ser204=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624074] |
Chr1:156868542 [GRCh38]
Chr1:156838334 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2206-13C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624347] |
Chr1:156881444 [GRCh38]
Chr1:156851236 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.966C>G (p.Leu322=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624793] |
Chr1:156873748 [GRCh38]
Chr1:156843540 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1396C>T (p.Leu466=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624871] |
Chr1:156875561 [GRCh38]
Chr1:156845353 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+8G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624397] |
Chr1:156875674 [GRCh38]
Chr1:156845466 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.850+20C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624572] |
Chr1:156871775 [GRCh38]
Chr1:156841567 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.474del (p.Trp158fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003624585] |
Chr1:156868148 [GRCh38]
Chr1:156837940 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2047-7G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625160] |
Chr1:156879992 [GRCh38]
Chr1:156849784 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.288-17C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003875491] |
Chr1:156864711 [GRCh38]
Chr1:156834503 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1455G>A (p.Gly485=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625819] |
Chr1:156875620 [GRCh38]
Chr1:156845412 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.850+15C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624162] |
Chr1:156871770 [GRCh38]
Chr1:156841562 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.939G>A (p.Leu313=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624888] |
Chr1:156873721 [GRCh38]
Chr1:156843513 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.186G>C (p.Leu62=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003874898] |
Chr1:156861120 [GRCh38]
Chr1:156830912 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-18C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624896] |
Chr1:156864336 [GRCh38]
Chr1:156834128 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-15T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624900] |
Chr1:156879107 [GRCh38]
Chr1:156848899 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1196-10G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625553] |
Chr1:156874561 [GRCh38]
Chr1:156844353 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-18G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625554] |
Chr1:156868086 [GRCh38]
Chr1:156837878 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.428+14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624331] |
Chr1:156866992 [GRCh38]
Chr1:156836784 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2047-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624368] |
Chr1:156879998 [GRCh38]
Chr1:156849790 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2047-19C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624374] |
Chr1:156879980 [GRCh38]
Chr1:156849772 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.39C>T (p.His13=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624564] |
Chr1:156860973 [GRCh38]
Chr1:156830765 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1081C>T (p.Leu361=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624908] |
Chr1:156873863 [GRCh38]
Chr1:156843655 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+18G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624916] |
Chr1:156876228 [GRCh38]
Chr1:156846020 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+12G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624857] |
Chr1:156861158 [GRCh38]
Chr1:156830950 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805+11C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624902] |
Chr1:156876583 [GRCh38]
Chr1:156846375 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-15C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625002] |
Chr1:156873618 [GRCh38]
Chr1:156843410 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+9C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625577] |
Chr1:156875675 [GRCh38]
Chr1:156845467 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1251+10G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625845] |
Chr1:156874636 [GRCh38]
Chr1:156844428 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.711G>T (p.Thr237=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625851] |
Chr1:156868641 [GRCh38]
Chr1:156838433 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.303T>C (p.Ser101=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625127] |
Chr1:156864743 [GRCh38]
Chr1:156834535 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-13G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625256] |
Chr1:156875507 [GRCh38]
Chr1:156845299 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.575-15G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625273] |
Chr1:156868490 [GRCh38]
Chr1:156838282 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1329A>G (p.Gly443=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511621] |
Chr1:156874983 [GRCh38]
Chr1:156844775 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1633-14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624957] |
Chr1:156876386 [GRCh38]
Chr1:156846178 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.288-16C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624960] |
Chr1:156864712 [GRCh38]
Chr1:156834504 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1365G>C (p.Val455=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625613] |
Chr1:156875530 [GRCh38]
Chr1:156845322 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-794C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625614] |
Chr1:156872839 [GRCh38]
Chr1:156842631 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-798C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625624] |
Chr1:156872835 [GRCh38]
Chr1:156842627 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.783G>A (p.Lys261=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003624974] |
Chr1:156871688 [GRCh38]
Chr1:156841480 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3339C>T (p.His1113=) |
single nucleotide variant |
not provided [RCV003409158] |
Chr1:156842170 [GRCh38]
Chr1:156811962 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-614GT[28] |
microsatellite |
not provided [RCV003409162] |
Chr1:156873018..156873019 [GRCh38]
Chr1:156842810..156842811 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.410G>A (p.Gly137Asp) |
single nucleotide variant |
not provided [RCV003481529] |
Chr1:156866960 [GRCh38]
Chr1:156836752 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2061C>A (p.Thr687=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511883] |
Chr1:156880013 [GRCh38]
Chr1:156849805 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3042G>A (p.Thr1014=) |
single nucleotide variant |
not provided [RCV003409159] |
Chr1:156843088 [GRCh38]
Chr1:156812880 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+373_717+397del |
deletion |
not provided [RCV003409161] |
Chr1:156869017..156869041 [GRCh38]
Chr1:156838809..156838833 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-614GT[17] |
microsatellite |
not provided [RCV003409163] |
Chr1:156873019..156873028 [GRCh38]
Chr1:156842811..156842820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.534C>T (p.Asp178=) |
single nucleotide variant |
not provided [RCV003409160] |
Chr1:156853855 [GRCh38]
Chr1:156823647 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+19G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513795] |
Chr1:156875027 [GRCh38]
Chr1:156844819 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1104C>A (p.Gly368=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003849152] |
Chr1:156873886 [GRCh38]
Chr1:156843678 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1773T>G (p.Tyr591Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512571] |
Chr1:156876540 [GRCh38]
Chr1:156846332 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.6G>A (p.Leu2=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512843] |
Chr1:156860940 [GRCh38]
Chr1:156830732 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.993G>A (p.Glu331=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511659] |
Chr1:156873775 [GRCh38]
Chr1:156843567 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2205+19T>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513189] |
Chr1:156880176 [GRCh38]
Chr1:156849968 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.360-2A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513337] |
Chr1:156866908 [GRCh38]
Chr1:156836700 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.132C>T (p.Gly44=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625987] |
Chr1:156861066 [GRCh38]
Chr1:156830858 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1875del (p.Gln626fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003512278] |
Chr1:156879188 [GRCh38]
Chr1:156848980 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1502-6C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513085] |
Chr1:156876074 [GRCh38]
Chr1:156845866 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2052A>C (p.Gly684=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513150] |
Chr1:156880004 [GRCh38]
Chr1:156849796 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512411] |
Chr1:156864353 [GRCh38]
Chr1:156834145 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1785G>A (p.Gly595=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512568] |
Chr1:156876552 [GRCh38]
Chr1:156846344 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-17C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625956] |
Chr1:156879105 [GRCh38]
Chr1:156848897 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.718-19C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625960] |
Chr1:156871604 [GRCh38]
Chr1:156841396 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.574+11G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511826] |
Chr1:156868260 [GRCh38]
Chr1:156838052 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2231_2286del (p.Arg744fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003512792] |
Chr1:156881481..156881536 [GRCh38]
Chr1:156851273..156851328 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.717+14C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513525] |
Chr1:156868661 [GRCh38]
Chr1:156838453 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.447T>G (p.Pro149=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625944] |
Chr1:156868122 [GRCh38]
Chr1:156837914 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1920C>T (p.Tyr640=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625950] |
Chr1:156879236 [GRCh38]
Chr1:156849028 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1323A>G (p.Lys441=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003626047] |
Chr1:156874977 [GRCh38]
Chr1:156844769 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-798_851-794delinsTCAGG |
indel |
Hereditary insensitivity to pain with anhidrosis [RCV003626062] |
Chr1:156872835..156872839 [GRCh38]
Chr1:156842627..156842631 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.287+18dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003512860] |
Chr1:156864445..156864446 [GRCh38]
Chr1:156834237..156834238 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1818T>C (p.Pro606=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003876716] |
Chr1:156879134 [GRCh38]
Chr1:156848926 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1196-16C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512943] |
Chr1:156874555 [GRCh38]
Chr1:156844347 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.456T>C (p.Cys152=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512820] |
Chr1:156868131 [GRCh38]
Chr1:156837923 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-5C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003881629] |
Chr1:156864349 [GRCh38]
Chr1:156834141 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1548G>A (p.Leu516=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003626090] |
Chr1:156876126 [GRCh38]
Chr1:156845918 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1881G>T (p.Leu627=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003879504] |
Chr1:156879197 [GRCh38]
Chr1:156848989 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.16C>A (p.Arg6=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511723] |
Chr1:156860950 [GRCh38]
Chr1:156830742 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1806-12dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003511766] |
Chr1:156879106..156879107 [GRCh38]
Chr1:156848898..156848899 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.851-765_851-764insCCCATCTAATTTTTTGTATTTTTTTAGTGGAGACG |
insertion |
Hereditary insensitivity to pain with anhidrosis [RCV003511773] |
Chr1:156872838..156872839 [GRCh38]
Chr1:156842630..156842631 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+16C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513504] |
Chr1:156868663 [GRCh38]
Chr1:156838455 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1633-19C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513514] |
Chr1:156876381 [GRCh38]
Chr1:156846173 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1587C>T (p.Cys529=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512277] |
Chr1:156876165 [GRCh38]
Chr1:156845957 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.145C>A (p.Arg49=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003625917] |
Chr1:156861079 [GRCh38]
Chr1:156830871 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.312T>C (p.Arg104=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512455] |
Chr1:156864752 [GRCh38]
Chr1:156834544 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.675C>G (p.Ala225=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512783] |
Chr1:156868605 [GRCh38]
Chr1:156838397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.288-4_288-3del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003512845] |
Chr1:156864722..156864723 [GRCh38]
Chr1:156834514..156834515 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1805+18C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513323] |
Chr1:156876590 [GRCh38]
Chr1:156846382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1668C>T (p.Asp556=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512256] |
Chr1:156876435 [GRCh38]
Chr1:156846227 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.165C>T (p.Ala55=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512267] |
Chr1:156861099 [GRCh38]
Chr1:156830891 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1633-17C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003876480] |
Chr1:156876383 [GRCh38]
Chr1:156846175 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.874_875del (p.Thr292fs) |
microsatellite |
Hereditary insensitivity to pain with anhidrosis [RCV003512929] |
Chr1:156873653..156873654 [GRCh38]
Chr1:156843445..156843446 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2304C>A (p.Pro768=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512335] |
Chr1:156881555 [GRCh38]
Chr1:156851347 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-11T>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513394] |
Chr1:156874895 [GRCh38]
Chr1:156844687 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.461dup (p.Cys154fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003880425] |
Chr1:156868135..156868136 [GRCh38]
Chr1:156837927..156837928 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2076C>T (p.Arg692=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512344] |
Chr1:156880028 [GRCh38]
Chr1:156849820 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+18G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513436] |
Chr1:156861164 [GRCh38]
Chr1:156830956 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+12C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511508] |
Chr1:156876222 [GRCh38]
Chr1:156846014 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+12T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512562] |
Chr1:156875678 [GRCh38]
Chr1:156845470 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+19G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513019] |
Chr1:156876229 [GRCh38]
Chr1:156846021 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1727_1735del (p.Phe576_Val578del) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003626043] |
Chr1:156876491..156876499 [GRCh38]
Chr1:156846283..156846291 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.575-8del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003511808] |
Chr1:156868495 [GRCh38]
Chr1:156838287 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-19G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512675] |
Chr1:156875501 [GRCh38]
Chr1:156845293 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1177+16_1177+28del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003512691] |
Chr1:156873973..156873985 [GRCh38]
Chr1:156843765..156843777 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+1G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003512697] |
Chr1:156875009 [GRCh38]
Chr1:156844801 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1252-18A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513558] |
Chr1:156874888 [GRCh38]
Chr1:156844680 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.200del (p.Asn67fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003513583] |
Chr1:156861133 [GRCh38]
Chr1:156830925 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1252-13del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003513227] |
Chr1:156874893 [GRCh38]
Chr1:156844685 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+17G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003513233] |
Chr1:156876227 [GRCh38]
Chr1:156846019 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2313C>A (p.Arg771=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003511905] |
Chr1:156881564 [GRCh38]
Chr1:156851356 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.46_70del (p.Ala16fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003511938] |
Chr1:156860975..156860999 [GRCh38]
Chr1:156830767..156830791 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2199C>T (p.Asn733=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003876110] |
Chr1:156880151 [GRCh38]
Chr1:156849943 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1196-13T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003810994] |
Chr1:156874558 [GRCh38]
Chr1:156844350 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.850+5G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV004006234] |
Chr1:156871760 [GRCh38]
Chr1:156841552 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1801dup (p.Leu601fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003855542] |
Chr1:156876566..156876567 [GRCh38]
Chr1:156846358..156846359 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.212+2T>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003832357] |
Chr1:156861148 [GRCh38]
Chr1:156830940 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1628T>A (p.Val543Asp) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003817530] |
Chr1:156876206 [GRCh38]
Chr1:156845998 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1806-20T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003839156] |
Chr1:156879102 [GRCh38]
Chr1:156848894 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+7G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003854725] |
Chr1:156875673 [GRCh38]
Chr1:156845465 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.819G>T (p.Arg273=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003855320] |
Chr1:156871724 [GRCh38]
Chr1:156841516 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-20C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003845634] |
Chr1:156874886 [GRCh38]
Chr1:156844678 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.288-12A>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003862039] |
Chr1:156864716 [GRCh38]
Chr1:156834508 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1884G>A (p.Leu628=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003860438] |
Chr1:156879200 [GRCh38]
Chr1:156848992 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.359+21del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003863378] |
Chr1:156864818 [GRCh38]
Chr1:156834610 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-20C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003818260] |
Chr1:156875500 [GRCh38]
Chr1:156845292 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1302G>T (p.Thr434=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003865558] |
Chr1:156874956 [GRCh38]
Chr1:156844748 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1215A>C (p.Gly405=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003818385] |
Chr1:156874590 [GRCh38]
Chr1:156844382 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1590C>T (p.His530=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003818441] |
Chr1:156876168 [GRCh38]
Chr1:156845960 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-13C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003865660] |
Chr1:156868091 [GRCh38]
Chr1:156837883 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2241G>A (p.Glu747=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003870703] |
Chr1:156881492 [GRCh38]
Chr1:156851284 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 |
copy number gain |
not specified [RCV003986717] |
Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1056C>G (p.Thr352=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003869609] |
Chr1:156873838 [GRCh38]
Chr1:156843630 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.717+17T>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003870866] |
Chr1:156868664 [GRCh38]
Chr1:156838456 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2172C>A (p.Gly724=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003863936] |
Chr1:156880124 [GRCh38]
Chr1:156849916 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1355-13G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003848461] |
Chr1:156875507 [GRCh38]
Chr1:156845299 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+21dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV003872349] |
Chr1:156876225..156876226 [GRCh38]
Chr1:156846017..156846018 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_002529.4(NTRK1):c.1196-16C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003871206] |
Chr1:156874555 [GRCh38]
Chr1:156844347 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1632+17G>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003869788] |
Chr1:156876227 [GRCh38]
Chr1:156846019 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.287+17C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003869864] |
Chr1:156864445 [GRCh38]
Chr1:156834237 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1502-14G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003871450] |
Chr1:156876066 [GRCh38]
Chr1:156845858 [GRCh37]
Chr1:1q23.1 |
likely benign |
| GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 |
copy number loss |
not specified [RCV003986928] |
Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1 |
pathogenic |
| GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 |
copy number gain |
not specified [RCV003987261] |
Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2205+8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003844254] |
Chr1:156880165 [GRCh38]
Chr1:156849957 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.268_277del (p.Gly89_Leu90insTer) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV003823483] |
Chr1:156864407..156864416 [GRCh38]
Chr1:156834199..156834208 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1354+17G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003864210] |
Chr1:156875025 [GRCh38]
Chr1:156844817 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1252-13T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003857050] |
Chr1:156874893 [GRCh38]
Chr1:156844685 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.428+18C>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV003822627] |
Chr1:156866996 [GRCh38]
Chr1:156836788 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3397+28C>T |
single nucleotide variant |
not specified [RCV003989152] |
Chr1:156842084 [GRCh38]
Chr1:156811876 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_001007792.1(NTRK1):c.-9A>G |
single nucleotide variant |
NTRK1-related disorder [RCV003957267] |
Chr1:156815821 [GRCh38]
Chr1:156785613 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV004515796] |
Chr1:156860936 [GRCh38]
Chr1:156830728 [GRCh37]
Chr1:1q23.1 |
pathogenic|likely pathogenic |
| NM_002529.4(NTRK1):c.2352G>A (p.Leu784=) |
single nucleotide variant |
not provided [RCV004546266] |
Chr1:156881603 [GRCh38]
Chr1:156851395 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1070delinsCTGC (p.Gly357delinsAlaAla) |
indel |
Hereditary insensitivity to pain with anhidrosis [RCV004527512] |
Chr1:156873852 [GRCh38]
Chr1:156843644 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2099T>C (p.Leu700Pro) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV004527536] |
Chr1:156880051 [GRCh38]
Chr1:156849843 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1178-31_1178-10del |
microsatellite |
NTRK1-related disorder [RCV003923891] |
Chr1:156874320..156874341 [GRCh38]
Chr1:156844112..156844133 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.851-31dup |
duplication |
NTRK1-related disorder [RCV003909477] |
Chr1:156873601..156873602 [GRCh38]
Chr1:156843393..156843394 [GRCh37]
Chr1:1q23.1 |
benign |
| NM_014215.3(INSRR):c.3480C>T (p.Ala1160=) |
single nucleotide variant |
not provided [RCV003886121] |
Chr1:156841712 [GRCh38]
Chr1:156811504 [GRCh37]
Chr1:1q23.1 |
benign|likely benign |
| NM_002529.4(NTRK1):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004496038] |
Chr1:156860993 [GRCh38]
Chr1:156830785 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1216G>A (p.Ala406Thr) |
single nucleotide variant |
not specified [RCV004398285] |
Chr1:156851303 [GRCh38]
Chr1:156821095 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.596A>G (p.His199Arg) |
single nucleotide variant |
not specified [RCV004398302] |
Chr1:156853793 [GRCh38]
Chr1:156823585 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.422A>G (p.Gln141Arg) |
single nucleotide variant |
not provided [RCV004547177] |
Chr1:156866972 [GRCh38]
Chr1:156836764 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.709A>G (p.Thr237Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004496039] |
Chr1:156868639 [GRCh38]
Chr1:156838431 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.2173A>C (p.Ile725Leu) |
single nucleotide variant |
not specified [RCV004398288] |
Chr1:156845620 [GRCh38]
Chr1:156815412 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2749G>A (p.Ala917Thr) |
single nucleotide variant |
not specified [RCV004398291] |
Chr1:156844269 [GRCh38]
Chr1:156814061 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2947C>T (p.Arg983Trp) |
single nucleotide variant |
not specified [RCV004398294] |
Chr1:156843183 [GRCh38]
Chr1:156812975 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.370C>T (p.Arg124Cys) |
single nucleotide variant |
not specified [RCV004398299] |
Chr1:156854019 [GRCh38]
Chr1:156823811 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2224G>A (p.Gly742Arg) |
single nucleotide variant |
not specified [RCV004398290] |
Chr1:156845289 [GRCh38]
Chr1:156815081 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1913T>C (p.Met638Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004496035] |
Chr1:156879229 [GRCh38]
Chr1:156849021 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1390G>C (p.Gly464Arg) |
single nucleotide variant |
not specified [RCV004398286] |
Chr1:156849300 [GRCh38]
Chr1:156819092 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.706G>A (p.Gly236Ser) |
single nucleotide variant |
not specified [RCV004398303] |
Chr1:156852123 [GRCh38]
Chr1:156821915 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3 |
copy number gain |
not provided [RCV004577444] |
Chr1:155709113..159191078 [GRCh37]
Chr1:1q22-23.2 |
likely pathogenic |
| NM_014215.3(INSRR):c.185C>T (p.Thr62Ile) |
single nucleotide variant |
not specified [RCV004398287] |
Chr1:156854204 [GRCh38]
Chr1:156823996 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2860G>A (p.Ala954Thr) |
single nucleotide variant |
not specified [RCV004398292] |
Chr1:156843463 [GRCh38]
Chr1:156813255 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.3392T>A (p.Ile1131Asn) |
single nucleotide variant |
not specified [RCV004398298] |
Chr1:156842117 [GRCh38]
Chr1:156811909 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.961G>A (p.Glu321Lys) |
single nucleotide variant |
not specified [RCV004398305] |
Chr1:156851769 [GRCh38]
Chr1:156821561 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2212G>A (p.Asp738Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004496036] |
Chr1:156881463 [GRCh38]
Chr1:156851255 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2876A>G (p.Glu959Gly) |
single nucleotide variant |
not specified [RCV004398293] |
Chr1:156843447 [GRCh38]
Chr1:156813239 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2957G>A (p.Gly986Asp) |
single nucleotide variant |
not specified [RCV004398295] |
Chr1:156843173 [GRCh38]
Chr1:156812965 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3028G>C (p.Val1010Leu) |
single nucleotide variant |
not specified [RCV004398296] |
Chr1:156843102 [GRCh38]
Chr1:156812894 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3088G>A (p.Glu1030Lys) |
single nucleotide variant |
not specified [RCV004398297] |
Chr1:156843042 [GRCh38]
Chr1:156812834 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3719C>T (p.Thr1240Ile) |
single nucleotide variant |
not specified [RCV004398300] |
Chr1:156841048 [GRCh38]
Chr1:156810840 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.458T>C (p.Ile153Thr) |
single nucleotide variant |
not specified [RCV004398301] |
Chr1:156853931 [GRCh38]
Chr1:156823723 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.859C>G (p.Pro287Ala) |
single nucleotide variant |
not specified [RCV004398304] |
Chr1:156851970 [GRCh38]
Chr1:156821762 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.836G>A (p.Arg279His) |
single nucleotide variant |
not specified [RCV004630801] |
Chr1:156851993 [GRCh38]
Chr1:156821785 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.1208G>T (p.Arg403Leu) |
single nucleotide variant |
not specified [RCV004630803] |
Chr1:156851311 [GRCh38]
Chr1:156821103 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.394G>C (p.Gly132Arg) |
single nucleotide variant |
not specified [RCV004630802] |
Chr1:156853995 [GRCh38]
Chr1:156823787 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.999G>C (p.Lys333Asn) |
single nucleotide variant |
not specified [RCV004630804] |
Chr1:156851731 [GRCh38]
Chr1:156821523 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.448C>T (p.Leu150Phe) |
single nucleotide variant |
not specified [RCV004630805] |
Chr1:156853941 [GRCh38]
Chr1:156823733 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2144T>C (p.Val715Ala) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005101994]|not specified [RCV004586237] |
Chr1:156880096 [GRCh38]
Chr1:156849888 [GRCh37]
Chr1:1q23.1 |
likely pathogenic|uncertain significance |
| NM_002529.4(NTRK1):c.2143G>C (p.Val715Leu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV004586251] |
Chr1:156880095 [GRCh38]
Chr1:156849887 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.1476C>A (p.Asn492Lys) |
single nucleotide variant |
not specified [RCV004630806] |
Chr1:156849016 [GRCh38]
Chr1:156818808 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2285G>T (p.Gly762Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004652585] |
Chr1:156881536 [GRCh38]
Chr1:156851328 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1660C>T (p.Arg554Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004652586] |
Chr1:156876427 [GRCh38]
Chr1:156846219 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1022T>C (p.Val341Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004638803] |
Chr1:156873804 [GRCh38]
Chr1:156843596 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_001007792.1(NTRK1):c.9+5T>C |
single nucleotide variant |
NTRK1-related disorder [RCV004753817] |
Chr1:156815843 [GRCh38]
Chr1:156785635 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2207C>A (p.Ala736Glu) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV004788602] |
Chr1:156881458 [GRCh38]
Chr1:156851250 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.646C>T (p.Gln216Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005049927] |
Chr1:156868576 [GRCh38]
Chr1:156838368 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1493del (p.Ser498fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV005049931] |
Chr1:156875658 [GRCh38]
Chr1:156845450 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1883del (p.Leu628fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV005049936] |
Chr1:156879199 [GRCh38]
Chr1:156848991 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.2173A>G (p.Ile725Val) |
single nucleotide variant |
not specified [RCV004931739] |
Chr1:156845620 [GRCh38]
Chr1:156815412 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2936T>G (p.Ile979Ser) |
single nucleotide variant |
not specified [RCV004931738] |
Chr1:156843194 [GRCh38]
Chr1:156812986 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
not specified [RCV004931740] |
Chr1:156853820 [GRCh38]
Chr1:156823612 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1393C>T (p.Arg465Trp) |
single nucleotide variant |
not specified [RCV004931743] |
Chr1:156849297 [GRCh38]
Chr1:156819089 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1076G>A (p.Arg359His) |
single nucleotide variant |
not specified [RCV004931751] |
Chr1:156851654 [GRCh38]
Chr1:156821446 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.812C>A (p.Ser271Tyr) |
single nucleotide variant |
not specified [RCV004931746] |
Chr1:156852017 [GRCh38]
Chr1:156821809 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1208G>A (p.Arg403Gln) |
single nucleotide variant |
not specified [RCV004931747] |
Chr1:156851311 [GRCh38]
Chr1:156821103 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1481C>T (p.Thr494Met) |
single nucleotide variant |
not specified [RCV004931749] |
Chr1:156849011 [GRCh38]
Chr1:156818803 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2020G>A (p.Gly674Ser) |
single nucleotide variant |
not specified [RCV004931741] |
Chr1:156845773 [GRCh38]
Chr1:156815565 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2189T>C (p.Val730Ala) |
single nucleotide variant |
not specified [RCV004931744] |
Chr1:156845399 [GRCh38]
Chr1:156815191 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2081C>T (p.Pro694Leu) |
single nucleotide variant |
not specified [RCV004931748] |
Chr1:156845712 [GRCh38]
Chr1:156815504 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2948G>A (p.Arg983Gln) |
single nucleotide variant |
not specified [RCV004931736] |
Chr1:156843182 [GRCh38]
Chr1:156812974 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.488G>C (p.Gly163Ala) |
single nucleotide variant |
not specified [RCV004931750] |
Chr1:156853901 [GRCh38]
Chr1:156823693 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.541C>T (p.Pro181Ser) |
single nucleotide variant |
not specified [RCV004931752] |
Chr1:156853848 [GRCh38]
Chr1:156823640 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1730del (p.Gly577fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV005044123] |
Chr1:156876496 [GRCh38]
Chr1:156846288 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.928C>T (p.Arg310Cys) |
single nucleotide variant |
not specified [RCV004931735] |
Chr1:156851901 [GRCh38]
Chr1:156821693 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2956G>A (p.Gly986Ser) |
single nucleotide variant |
not specified [RCV004931737] |
Chr1:156843174 [GRCh38]
Chr1:156812966 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2228G>C (p.Arg743Pro) |
single nucleotide variant |
not specified [RCV004931742] |
Chr1:156845285 [GRCh38]
Chr1:156815077 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2467G>A (p.Ala823Thr) |
single nucleotide variant |
not specified [RCV004931734] |
Chr1:156844814 [GRCh38]
Chr1:156814606 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2494G>A (p.Val832Ile) |
single nucleotide variant |
not specified [RCV004931745] |
Chr1:156844787 [GRCh38]
Chr1:156814579 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.364C>T (p.Leu122Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004954117] |
Chr1:156866914 [GRCh38]
Chr1:156836706 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1273G>T (p.Ala425Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004954119] |
Chr1:156874927 [GRCh38]
Chr1:156844719 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1773T>A (p.Tyr591Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004954118] |
Chr1:156876540 [GRCh38]
Chr1:156846332 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1806-2A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005044127] |
Chr1:156879120 [GRCh38]
Chr1:156848912 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2292G>A (p.Trp764Ter) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005044152] |
Chr1:156881543 [GRCh38]
Chr1:156851335 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1356C>T (p.Arg452=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005067763] |
Chr1:156875521 [GRCh38]
Chr1:156845313 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1251+3G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005176089] |
Chr1:156874629 [GRCh38]
Chr1:156844421 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1702del (p.Gln568fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV005208458] |
Chr1:156876469 [GRCh38]
Chr1:156846261 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1602T>G (p.Pro534=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005172963] |
Chr1:156876180 [GRCh38]
Chr1:156845972 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.12C>A (p.Gly4=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005130396] |
Chr1:156860946 [GRCh38]
Chr1:156830738 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1423del (p.Ser475fs) |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV005120530] |
Chr1:156875588 [GRCh38]
Chr1:156845380 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.675C>A (p.Ala225=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005070040] |
Chr1:156868605 [GRCh38]
Chr1:156838397 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.82C>T (p.Leu28=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005160883] |
Chr1:156861016 [GRCh38]
Chr1:156830808 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_001007792.1(NTRK1):c.67G>A (p.Asp23Asn) |
single nucleotide variant |
not provided [RCV005241952] |
Chr1:156842138 [GRCh38]
Chr1:156811930 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1354+10G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005078213] |
Chr1:156875018 [GRCh38]
Chr1:156844810 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.213-4A>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005136179] |
Chr1:156864350 [GRCh38]
Chr1:156834142 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.435G>T (p.Leu145=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005118168] |
Chr1:156868110 [GRCh38]
Chr1:156837902 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1241C>T (p.Thr414Ile) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005192146] |
Chr1:156874616 [GRCh38]
Chr1:156844408 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.2206-12C>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005238662] |
Chr1:156881445 [GRCh38]
Chr1:156851237 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.2047-18A>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005203907] |
Chr1:156879981 [GRCh38]
Chr1:156849773 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.287+16del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV005133738] |
Chr1:156864444 [GRCh38]
Chr1:156834236 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.399C>T (p.Ala133=) |
single nucleotide variant |
not provided [RCV005245306] |
Chr1:156853990 [GRCh38]
Chr1:156823782 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1953G>C (p.Leu651=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005202469] |
Chr1:156879269 [GRCh38]
Chr1:156849061 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1177+1G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005115080] |
Chr1:156873960 [GRCh38]
Chr1:156843752 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_002529.4(NTRK1):c.1233G>A (p.Lys411=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005188256] |
Chr1:156874608 [GRCh38]
Chr1:156844400 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.898T>C (p.Cys300Arg) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005168693] |
Chr1:156873680 [GRCh38]
Chr1:156843472 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.429-20G>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005113346] |
Chr1:156868084 [GRCh38]
Chr1:156837876 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.429-8C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005182454] |
Chr1:156868096 [GRCh38]
Chr1:156837888 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+8T>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005169105] |
Chr1:156879370 [GRCh38]
Chr1:156849162 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1692C>T (p.Leu564=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005076897] |
Chr1:156876459 [GRCh38]
Chr1:156846251 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.250C>G (p.Leu84Val) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005140519] |
Chr1:156864391 [GRCh38]
Chr1:156834183 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1659_1660dup (p.Arg554fs) |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV005164497] |
Chr1:156876424..156876425 [GRCh38]
Chr1:156846216..156846217 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.1278C>T (p.Val426=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005164514] |
Chr1:156874932 [GRCh38]
Chr1:156844724 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1136T>C (p.Met379Thr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005188672] |
Chr1:156873918 [GRCh38]
Chr1:156843710 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.285C>A (p.Asn95Lys) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005155808] |
Chr1:156864426 [GRCh38]
Chr1:156834218 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1275C>G (p.Ala425=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005159837] |
Chr1:156874929 [GRCh38]
Chr1:156844721 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2046+13T>C |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005077022] |
Chr1:156879375 [GRCh38]
Chr1:156849167 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1434C>A (p.Pro478=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005121171] |
Chr1:156875599 [GRCh38]
Chr1:156845391 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.212+13C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005162427] |
Chr1:156861159 [GRCh38]
Chr1:156830951 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.2310A>G (p.Gln770=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005122379] |
Chr1:156881561 [GRCh38]
Chr1:156851353 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1056C>T (p.Thr352=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005138492] |
Chr1:156873838 [GRCh38]
Chr1:156843630 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1354+12C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005181061] |
Chr1:156875020 [GRCh38]
Chr1:156844812 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1177+8G>A |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005148421] |
Chr1:156873967 [GRCh38]
Chr1:156843759 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.119G>A (p.Cys40Tyr) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005179984] |
Chr1:156861053 [GRCh38]
Chr1:156830845 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1122C>T (p.Ile374=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005123474] |
Chr1:156873904 [GRCh38]
Chr1:156843696 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1509C>T (p.His503=) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005201311] |
Chr1:156876087 [GRCh38]
Chr1:156845879 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1177+11C>T |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005185311] |
Chr1:156873970 [GRCh38]
Chr1:156843762 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_002529.4(NTRK1):c.1501+12T>G |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005152214] |
Chr1:156875678 [GRCh38]
Chr1:156845470 [GRCh37]
Chr1:1q23.1 |
likely benign |
| NM_014215.3(INSRR):c.652C>A (p.His218Asn) |
single nucleotide variant |
not specified [RCV005354584] |
Chr1:156852177 [GRCh38]
Chr1:156821969 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2867T>C (p.Val956Ala) |
single nucleotide variant |
not specified [RCV005354581] |
Chr1:156843456 [GRCh38]
Chr1:156813248 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2221T>A (p.Ser741Thr) |
single nucleotide variant |
not specified [RCV005354585] |
Chr1:156845292 [GRCh38]
Chr1:156815084 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1783A>G (p.Ile595Val) |
single nucleotide variant |
not specified [RCV005354587] |
Chr1:156846546 [GRCh38]
Chr1:156816338 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.579G>T (p.Lys193Asn) |
single nucleotide variant |
not specified [RCV005354588] |
Chr1:156853810 [GRCh38]
Chr1:156823602 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1417C>T (p.Pro473Ser) |
single nucleotide variant |
not specified [RCV005354580] |
Chr1:156849273 [GRCh38]
Chr1:156819065 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1058A>C (p.His353Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV005381713] |
Chr1:156873840 [GRCh38]
Chr1:156843632 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3043G>T (p.Val1015Leu) |
single nucleotide variant |
not specified [RCV005352599] |
Chr1:156843087 [GRCh38]
Chr1:156812879 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.960C>G (p.Cys320Trp) |
single nucleotide variant |
not specified [RCV005354577] |
Chr1:156851770 [GRCh38]
Chr1:156821562 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2592T>G (p.Cys864Trp) |
single nucleotide variant |
not specified [RCV005340568] |
Chr1:156844607 [GRCh38]
Chr1:156814399 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1948G>C (p.Asp650His) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005253240] |
Chr1:156879264 [GRCh38]
Chr1:156849056 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3826G>A (p.Asp1276Asn) |
single nucleotide variant |
not specified [RCV005354576] |
Chr1:156840941 [GRCh38]
Chr1:156810733 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2138T>C (p.Phe713Ser) |
single nucleotide variant |
not specified [RCV005354583] |
Chr1:156845655 [GRCh38]
Chr1:156815447 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.889C>T (p.His297Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV005381715] |
Chr1:156873671 [GRCh38]
Chr1:156843463 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1043T>A (p.Leu348His) |
single nucleotide variant |
Inborn genetic diseases [RCV005381714] |
Chr1:156873825 [GRCh38]
Chr1:156843617 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.3130C>T (p.Arg1044Cys) |
single nucleotide variant |
not specified [RCV005340569] |
Chr1:156842505 [GRCh38]
Chr1:156812297 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1960A>C (p.Asn654His) |
single nucleotide variant |
not specified [RCV005354586] |
Chr1:156845970 [GRCh38]
Chr1:156815762 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2005G>T (p.Asp669Tyr) |
single nucleotide variant |
not specified [RCV005354578] |
Chr1:156845788 [GRCh38]
Chr1:156815580 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.1460T>C (p.Leu487Pro) |
single nucleotide variant |
not specified [RCV005354579] |
Chr1:156849032 [GRCh38]
Chr1:156818824 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1258G>A (p.Val420Met) |
single nucleotide variant |
Hereditary insensitivity to pain with anhidrosis [RCV005400068] |
Chr1:156874912 [GRCh38]
Chr1:156844704 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.391_392del (p.Ser131fs) |
microsatellite |
not provided [RCV005416999] |
Chr1:156866935..156866936 [GRCh38]
Chr1:156836727..156836728 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NM_002529.4(NTRK1):c.2371T>G (p.Tyr791Asp) |
single nucleotide variant |
not provided [RCV005426825] |
Chr1:156881622 [GRCh38]
Chr1:156851414 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_156841395)_(156843392_?)dup |
duplication |
Hereditary insensitivity to pain with anhidrosis [RCV004583921] |
Chr1:156841395..156843392 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NM_014215.3(INSRR):c.2171C>T (p.Pro724Leu) |
single nucleotide variant |
not specified [RCV004348390] |
Chr1:156845622 [GRCh38]
Chr1:156815414 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_014215.3(INSRR):c.2905C>A (p.Pro969Thr) |
single nucleotide variant |
not specified [RCV004340469] |
Chr1:156843225 [GRCh38]
Chr1:156813017 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NM_002529.4(NTRK1):c.1579G>C (p.Ala527Pro) |
single nucleotide variant |
not specified [RCV003331582] |
Chr1:156876157 [GRCh38]
Chr1:156845949 [GRCh37]
Chr1:1q23.1 |
uncertain significance |
| NC_000001.10:g.(?_156830727)_(156836790_?)del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV004583917] |
Chr1:156830727..156836790 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NC_000001.10:g.(?_156844810)_(156846190_?)del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV004583918] |
Chr1:156844810..156846190 [GRCh37]
Chr1:1q23.1 |
likely pathogenic |
| NC_000001.10:g.(?_156836682)_(156841567_?)del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV004583919] |
Chr1:156836682..156841567 [GRCh37]
Chr1:1q23.1 |
pathogenic |
| NC_000001.10:g.(?_156841395)_(156844438_?)del |
deletion |
Hereditary insensitivity to pain with anhidrosis [RCV004583920] |
Chr1:156841395..156844438 [GRCh37]
Chr1:1q23.1 |
pathogenic |
