GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 |
copy number gain |
See cases [RCV000051724] |
Chr3:147442566..178522531 [GRCh38] Chr3:147160353..178240319 [GRCh37] Chr3:148643043..179723013 [NCBI36] Chr3:3q24-26.32 |
pathogenic |
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 |
copy number gain |
See cases [RCV000051725] |
Chr3:147521892..198096565 [GRCh38] Chr3:147239679..197823436 [GRCh37] Chr3:148722369..199307833 [NCBI36] Chr3:3q24-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 |
copy number gain |
See cases [RCV000051726] |
Chr3:157293378..198134727 [GRCh38] Chr3:157011167..197861598 [GRCh37] Chr3:158493861..199345995 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
NM_014932.3(NLGN1):c.-321+76754C>A |
single nucleotide variant |
Lung cancer [RCV000093285] |
Chr3:173511832 [GRCh38] Chr3:173229622 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] |
Chr3:137126982..198110178 [GRCh38] Chr3:136845824..197837049 [GRCh37] Chr3:138328514..199321446 [NCBI36] Chr3:3q22.3-29 |
pathogenic |
GRCh38/hg38 3q26.31-26.32(chr3:174229765-176307536)x1 |
copy number loss |
See cases [RCV000054000] |
Chr3:174229765..176307536 [GRCh38] Chr3:173947555..176025324 [GRCh37] Chr3:175430249..177508018 [NCBI36] Chr3:3q26.31-26.32 |
uncertain significance |
NM_014932.3(NLGN1):c.480C>T (p.Val160=) |
single nucleotide variant |
Malignant melanoma [RCV000060772] |
Chr3:173605078 [GRCh38] Chr3:173322868 [GRCh37] Chr3:174805562 [NCBI36] Chr3:3q26.31 |
not provided |
NM_014932.3(NLGN1):c.-390+17580C>T |
single nucleotide variant |
Lung cancer [RCV000093282] |
Chr3:173416067 [GRCh38] Chr3:173133857 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.-321+35723G>C |
single nucleotide variant |
Lung cancer [RCV000093283] |
Chr3:173470801 [GRCh38] Chr3:173188591 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.-321+60973C>G |
single nucleotide variant |
Lung cancer [RCV000093284] |
Chr3:173496051 [GRCh38] Chr3:173213841 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.-321+83003C>T |
single nucleotide variant |
Lung cancer [RCV000093286] |
Chr3:173518081 [GRCh38] Chr3:173235871 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.-320-5894A>G |
single nucleotide variant |
Lung cancer [RCV000093288] |
Chr3:173598385 [GRCh38] Chr3:173316175 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.493+67316A>G |
single nucleotide variant |
Lung cancer [RCV000093289] |
Chr3:173672407 [GRCh38] Chr3:173390197 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.493+95850C>T |
single nucleotide variant |
Lung cancer [RCV000093290] |
Chr3:173700941 [GRCh38] Chr3:173418731 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.494-65167T>G |
single nucleotide variant |
Lung cancer [RCV000093291] |
Chr3:173742513 [GRCh38] Chr3:173460303 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.494-48689A>T |
single nucleotide variant |
Lung cancer [RCV000093292] |
Chr3:173758991 [GRCh38] Chr3:173476781 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.646+68110G>C |
single nucleotide variant |
Lung cancer [RCV000093293] |
Chr3:173875942 [GRCh38] Chr3:173593732 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.646+143732G>C |
single nucleotide variant |
Lung cancer [RCV000093294] |
Chr3:173951564 [GRCh38] Chr3:173669354 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.647-224205A>T |
single nucleotide variant |
Lung cancer [RCV000093295] |
Chr3:174051110 [GRCh38] Chr3:173768900 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_014932.3(NLGN1):c.647-170501T>A |
single nucleotide variant |
Lung cancer [RCV000093296] |
Chr3:174104814 [GRCh38] Chr3:173822604 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.705C>T (p.Leu235=) |
single nucleotide variant |
not specified [RCV000203186] |
Chr3:173807831 [GRCh38] Chr3:173525621 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_014932.3(NLGN1):c.-320-36082T>C |
single nucleotide variant |
Lung cancer [RCV000093287] |
Chr3:173568197 [GRCh38] Chr3:173285987 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q26.31(chr3:174229965-174748860)x3 |
copy number gain |
See cases [RCV000135925] |
Chr3:174229965..174748860 [GRCh38] Chr3:173947755..174466650 [GRCh37] Chr3:175430449..175949344 [NCBI36] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 |
copy number gain |
See cases [RCV000137106] |
Chr3:168167568..198110178 [GRCh38] Chr3:167885356..197837049 [GRCh37] Chr3:169368050..199321446 [NCBI36] Chr3:3q26.2-29 |
pathogenic |
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 |
copy number gain |
See cases [RCV000139359] |
Chr3:165158611..180130168 [GRCh38] Chr3:164876399..179847956 [GRCh37] Chr3:166359093..181330650 [NCBI36] Chr3:3q26.1-26.33 |
pathogenic |
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 |
copy number gain |
See cases [RCV000139435] |
Chr3:152100512..198118383 [GRCh38] Chr3:151818301..197845254 [GRCh37] Chr3:153300991..199329651 [NCBI36] Chr3:3q25.1-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 |
copy number gain |
See cases [RCV000140849] |
Chr3:156321878..198113452 [GRCh38] Chr3:156039667..197840323 [GRCh37] Chr3:157522361..199324720 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 |
copy number gain |
See cases [RCV000142310] |
Chr3:156118441..198125115 [GRCh38] Chr3:155836230..197851986 [GRCh37] Chr3:157318924..199336383 [NCBI36] Chr3:3q25.31-29 |
pathogenic |
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 |
copy number gain |
See cases [RCV000142107] |
Chr3:167717962..188365272 [GRCh38] Chr3:167435750..188083060 [GRCh37] Chr3:168918444..189565754 [NCBI36] Chr3:3q26.1-28 |
likely pathogenic |
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 |
copy number gain |
See cases [RCV000240256] |
Chr3:142995020..192997215 [GRCh37] Chr3:3q24-29 |
pathogenic |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 |
copy number gain |
See cases [RCV000446611] |
Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:173435227-174228627)x3 |
copy number gain |
See cases [RCV000511216] |
Chr3:173435227..174228627 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2403T>C (p.Ile801=) |
single nucleotide variant |
not provided [RCV000903686] |
Chr3:174281174 [GRCh38] Chr3:173998964 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.202G>C (p.Glu68Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003266994] |
Chr3:173604800 [GRCh38] Chr3:173322590 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.2219A>G (p.Asn740Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003247831] |
Chr3:174280990 [GRCh38] Chr3:173998780 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:173068109-173172094)x3 |
copy number gain |
not provided [RCV000848521] |
Chr3:173068109..173172094 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1509G>T (p.Thr503=) |
single nucleotide variant |
not provided [RCV000929626] |
Chr3:174279450 [GRCh38] Chr3:173997240 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.1422G>A (p.Lys474=) |
single nucleotide variant |
NLGN1-related disorder [RCV003975875]|not provided [RCV001659610] |
Chr3:174279363 [GRCh38] Chr3:173997153 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu) |
single nucleotide variant |
Autism, susceptibility to, 20 [RCV001093627] |
Chr3:173604864 [GRCh38] Chr3:173322654 [GRCh37] Chr3:3q26.31 |
risk factor |
NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro) |
single nucleotide variant |
Autism, susceptibility to, 20 [RCV001093628] |
Chr3:174275474 [GRCh38] Chr3:173993264 [GRCh37] Chr3:3q26.31 |
risk factor |
NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu) |
single nucleotide variant |
Autism, susceptibility to, 20 [RCV001093629] |
Chr3:174278891 [GRCh38] Chr3:173996681 [GRCh37] Chr3:3q26.31 |
risk factor |
NM_001365925.2(NLGN1):c.74T>A (p.Leu25Ter) |
single nucleotide variant |
not provided [RCV001093630] |
Chr3:173604672 [GRCh38] Chr3:173322462 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=) |
single nucleotide variant |
Autism, susceptibility to, 20 [RCV004799426] |
Chr3:174281303 [GRCh38] Chr3:173999093 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.262C>T (p.Pro88Ser) |
single nucleotide variant |
not provided [RCV001814809] |
Chr3:173604860 [GRCh38] Chr3:173322650 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 |
copy number gain |
not provided [RCV001827868] |
Chr3:168118411..179867071 [GRCh37] Chr3:3q26.2-26.33 |
likely pathogenic |
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) |
copy number gain |
not specified [RCV002053382] |
Chr3:157128738..181637333 [GRCh37] Chr3:3q25.32-26.33 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:173021800-173984110) |
copy number loss |
not specified [RCV002053387] |
Chr3:173021800..173984110 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2080A>G (p.Thr694Ala) |
single nucleotide variant |
not provided [RCV001937531] |
Chr3:174280851 [GRCh38] Chr3:173998641 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2444A>G (p.His815Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002776827] |
Chr3:174281215 [GRCh38] Chr3:173999005 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1265G>A (p.Ser422Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002976754] |
Chr3:174279206 [GRCh38] Chr3:173996996 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.2272A>G (p.Thr758Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002660701] |
Chr3:174281043 [GRCh38] Chr3:173998833 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.559C>T (p.Arg187Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002757112] |
Chr3:173807685 [GRCh38] Chr3:173525475 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.278G>A (p.Arg93His) |
single nucleotide variant |
Inborn genetic diseases [RCV002645431] |
Chr3:173604876 [GRCh38] Chr3:173322666 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.209A>G (p.Asn70Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002931771] |
Chr3:173604807 [GRCh38] Chr3:173322597 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2480C>T (p.Thr827Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002717985] |
Chr3:174281251 [GRCh38] Chr3:173999041 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1657G>A (p.Val553Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002897963] |
Chr3:174279598 [GRCh38] Chr3:173997388 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.763A>T (p.Ile255Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002898509] |
Chr3:174275371 [GRCh38] Chr3:173993161 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1727T>A (p.Val576Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003008553] |
Chr3:174280498 [GRCh38] Chr3:173998288 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.221T>G (p.Leu74Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002836036] |
Chr3:173604819 [GRCh38] Chr3:173322609 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:173646950-174003055)x3 |
copy number gain |
not provided [RCV003484150] |
Chr3:173646950..174003055 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.19A>G (p.Thr7Ala) |
single nucleotide variant |
not provided [RCV003488147] |
Chr3:173604617 [GRCh38] Chr3:173322407 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.835G>T (p.Gly279Ter) |
single nucleotide variant |
NLGN1-related disorder [RCV003410501] |
Chr3:174275443 [GRCh38] Chr3:173993233 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.706G>A (p.Gly236Ser) |
single nucleotide variant |
not provided [RCV003434795] |
Chr3:173807832 [GRCh38] Chr3:173525622 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2207G>T (p.Arg736Leu) |
single nucleotide variant |
not provided [RCV003488145] |
Chr3:174280978 [GRCh38] Chr3:173998768 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2024A>G (p.Gln675Arg) |
single nucleotide variant |
not provided [RCV003488146] |
Chr3:174280795 [GRCh38] Chr3:173998585 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.989C>A (p.Ala330Glu) |
single nucleotide variant |
NLGN1-related disorder [RCV003897065] |
Chr3:174278930 [GRCh38] Chr3:173996720 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.554-7382C>T |
single nucleotide variant |
NLGN1-related disorder [RCV003907290] |
Chr3:173800298 [GRCh38] Chr3:173518088 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.2394C>T (p.Pro798=) |
single nucleotide variant |
NLGN1-related disorder [RCV003973912] |
Chr3:174281165 [GRCh38] Chr3:173998955 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.1709+7A>G |
single nucleotide variant |
NLGN1-related disorder [RCV003964523] |
Chr3:174279657 [GRCh38] Chr3:173997447 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.483G>A (p.Pro161=) |
single nucleotide variant |
NLGN1-related disorder [RCV003964573] |
Chr3:173605081 [GRCh38] Chr3:173322871 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.348G>A (p.Val116=) |
single nucleotide variant |
NLGN1-related disorder [RCV003974258] |
Chr3:173604946 [GRCh38] Chr3:173322736 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.1047G>A (p.Glu349=) |
single nucleotide variant |
NLGN1-related disorder [RCV003964506] |
Chr3:174278988 [GRCh38] Chr3:173996778 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.1702A>G (p.Lys568Glu) |
single nucleotide variant |
NLGN1-related disorder [RCV003899583] |
Chr3:174279643 [GRCh38] Chr3:173997433 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1479G>A (p.Ala493=) |
single nucleotide variant |
Inborn genetic diseases [RCV004493311] |
Chr3:174279420 [GRCh38] Chr3:173997210 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.2497C>T (p.Pro833Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004493318] |
Chr3:174281268 [GRCh38] Chr3:173999058 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.211A>T (p.Asn71Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004647278] |
Chr3:173604809 [GRCh38] Chr3:173322599 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 |
copy number gain |
See cases [RCV000143694] |
Chr3:166137209..198125115 [GRCh38] Chr3:165854997..197851986 [GRCh37] Chr3:167337691..199336383 [NCBI36] Chr3:3q26.1-29 |
pathogenic |
NM_014932.4(NLGN1):c.-320-82616_-320-21032dup |
duplication |
Preeclampsia [RCV000161325] |
Chr3:173521663..173583247 [GRCh38] Chr3:173239453..173301037 [GRCh37] Chr3:3q26.31 |
not provided |
NM_014932.4(NLGN1):c.-320-82616_-320-12230dup |
duplication |
Large for gestational age [RCV000161326] |
Chr3:173521663..173592049 [GRCh38] Chr3:173239453..173309839 [GRCh37] Chr3:3q26.31 |
not provided |
GRCh37/hg19 3q26.31(chr3:173239453-173289281)x3 |
copy number gain |
Premature ovarian failure [RCV000225199] |
Chr3:173239453..173289281 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 |
copy number gain |
See cases [RCV000447464] |
Chr3:158980631..197766890 [GRCh37] Chr3:3q25.32-29 |
pathogenic |
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 |
copy number gain |
See cases [RCV000448608] |
Chr3:152356847..197851986 [GRCh37] Chr3:3q25.2-29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:173179298-173309839)x3 |
copy number gain |
not provided [RCV000742965] |
Chr3:173179298..173309839 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q26.31(chr3:173206036-173214745)x1 |
copy number loss |
not provided [RCV000742966] |
Chr3:173206036..173214745 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q26.31(chr3:173213243-173299666)x3 |
copy number gain |
not provided [RCV000742967] |
Chr3:173213243..173299666 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 |
copy number gain |
not provided [RCV000742968] |
Chr3:173281266..197838262 [GRCh37] Chr3:3q26.31-29 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:173556777-173954115)x3 |
copy number gain |
not provided [RCV000742969] |
Chr3:173556777..173954115 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.591G>A (p.Val197=) |
single nucleotide variant |
not provided [RCV000971500] |
Chr3:173807717 [GRCh38] Chr3:173525507 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.1368T>C (p.Ile456=) |
single nucleotide variant |
not provided [RCV000896596] |
Chr3:174279309 [GRCh38] Chr3:173997099 [GRCh37] Chr3:3q26.31 |
benign |
NM_001365925.2(NLGN1):c.2070G>A (p.Arg690=) |
single nucleotide variant |
not provided [RCV000891862] |
Chr3:174280841 [GRCh38] Chr3:173998631 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 |
copy number gain |
not provided [RCV001005487] |
Chr3:169617690..190593854 [GRCh37] Chr3:3q26.2-28 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3 |
copy number gain |
not provided [RCV000847729] |
Chr3:172095903..173254604 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.493+5G>A |
single nucleotide variant |
Autism, susceptibility to, 20 [RCV004784938] |
Chr3:173605096 [GRCh38] Chr3:173322886 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.259G>T (p.Ala87Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003240633] |
Chr3:173604857 [GRCh38] Chr3:173322647 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1002A>G (p.Arg334=) |
single nucleotide variant |
NLGN1-related disorder [RCV003910544]|not provided [RCV000889465] |
Chr3:174278943 [GRCh38] Chr3:173996733 [GRCh37] Chr3:3q26.31 |
benign |
GRCh37/hg19 3q26.31(chr3:173162477-173625339)x3 |
copy number gain |
not provided [RCV002473564] |
Chr3:173162477..173625339 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:173920001-174512669)x3 |
copy number gain |
not provided [RCV002473649] |
Chr3:173920001..174512669 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.295G>C (p.Glu99Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003241793] |
Chr3:173604893 [GRCh38] Chr3:173322683 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.554-7372_554-7369del |
deletion |
See cases [RCV003128477] |
Chr3:173800307..173800310 [GRCh38] Chr3:173518097..173518100 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.298C>T (p.Pro100Ser) |
single nucleotide variant |
See cases [RCV002252601] |
Chr3:173604896 [GRCh38] Chr3:173322686 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 |
copy number gain |
Isolated anorectal malformation [RCV002286610] |
Chr3:171558472..197871052 [GRCh37] Chr3:3q26.31-29 |
likely pathogenic |
NM_001365925.2(NLGN1):c.1253A>G (p.Asn418Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003262699] |
Chr3:174279194 [GRCh38] Chr3:173996984 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.71G>A (p.Gly24Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002901588] |
Chr3:173604669 [GRCh38] Chr3:173322459 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:173318110-173786367)x1 |
copy number loss |
not provided [RCV002475656] |
Chr3:173318110..173786367 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:173833985-174087357)x3 |
copy number gain |
not provided [RCV002475534] |
Chr3:173833985..174087357 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.53C>A (p.Ala18Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002891476] |
Chr3:173604651 [GRCh38] Chr3:173322441 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.973G>A (p.Val325Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002664479]|NLGN1-related disorder [RCV003410146] |
Chr3:174278914 [GRCh38] Chr3:173996704 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1261G>T (p.Asp421Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002763092] |
Chr3:174279202 [GRCh38] Chr3:173996992 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2032C>G (p.Pro678Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002712618] |
Chr3:174280803 [GRCh38] Chr3:173998593 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.595A>G (p.Ile199Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002747269] |
Chr3:173807721 [GRCh38] Chr3:173525511 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2206C>T (p.Arg736Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003282117] |
Chr3:174280977 [GRCh38] Chr3:173998767 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.82C>G (p.Pro28Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003180542] |
Chr3:173604680 [GRCh38] Chr3:173322470 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.443A>G (p.Asp148Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003213126] |
Chr3:173605041 [GRCh38] Chr3:173322831 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1028A>G (p.Asn343Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003357253] |
Chr3:174278969 [GRCh38] Chr3:173996759 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.307C>T (p.Pro103Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003378414] |
Chr3:173604905 [GRCh38] Chr3:173322695 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1333T>C (p.Tyr445His) |
single nucleotide variant |
Inborn genetic diseases [RCV003363878] |
Chr3:174279274 [GRCh38] Chr3:173997064 [GRCh37] Chr3:3q26.31 |
likely benign |
GRCh37/hg19 3q26.31(chr3:171835889-173764343)x3 |
copy number gain |
not provided [RCV003484149] |
Chr3:171835889..173764343 [GRCh37] Chr3:3q26.31 |
uncertain significance |
GRCh37/hg19 3q26.31(chr3:173965578-174305946)x3 |
copy number gain |
not provided [RCV003484151] |
Chr3:173965578..174305946 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2524A>G (p.Arg842Gly) |
single nucleotide variant |
not provided [RCV003434796] |
Chr3:174281295 [GRCh38] Chr3:173999085 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2428G>A (p.Gly810Arg) |
single nucleotide variant |
NLGN1-related disorder [RCV003400207] |
Chr3:174281199 [GRCh38] Chr3:173998989 [GRCh37] Chr3:3q26.31 |
uncertain significance |
Single allele |
duplication |
not provided [RCV003448680] |
Chr3:140154329..197847235 [GRCh37] Chr3:3q23-29 |
pathogenic |
GRCh37/hg19 3q26.31(chr3:172382427-173592368)x3 |
copy number gain |
not specified [RCV003986435] |
Chr3:172382427..173592368 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1879T>G (p.Leu627Val) |
single nucleotide variant |
not provided [RCV003542527] |
Chr3:174280650 [GRCh38] Chr3:173998440 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1095A>C (p.Gln365His) |
single nucleotide variant |
Inborn genetic diseases [RCV004493310] |
Chr3:174279036 [GRCh38] Chr3:173996826 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1528C>T (p.His510Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004493312] |
Chr3:174279469 [GRCh38] Chr3:173997259 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1529A>T (p.His510Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004493313] |
Chr3:174279470 [GRCh38] Chr3:173997260 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1833A>T (p.Lys611Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004493314] |
Chr3:174280604 [GRCh38] Chr3:173998394 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2251A>G (p.Met751Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004493316] |
Chr3:174281022 [GRCh38] Chr3:173998812 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2329G>A (p.Ala777Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004493317] |
Chr3:174281100 [GRCh38] Chr3:173998890 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.688T>A (p.Tyr230Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004493320] |
Chr3:173807814 [GRCh38] Chr3:173525604 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.899G>A (p.Arg300His) |
single nucleotide variant |
Inborn genetic diseases [RCV004493322] |
Chr3:174275507 [GRCh38] Chr3:173993297 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.2223T>G (p.Asp741Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004493315] |
Chr3:174280994 [GRCh38] Chr3:173998784 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.208A>G (p.Asn70Asp) |
single nucleotide variant |
NLGN1-related disorder [RCV003932101] |
Chr3:173604806 [GRCh38] Chr3:173322596 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.111G>A (p.Leu37=) |
single nucleotide variant |
NLGN1-related disorder [RCV003933970] |
Chr3:173604709 [GRCh38] Chr3:173322499 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.777_779dup (p.Trp260Ter) |
duplication |
NLGN1-related disorder [RCV004755182] |
Chr3:174275383..174275384 [GRCh38] Chr3:173993173..173993174 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.1634C>T (p.Pro545Leu) |
single nucleotide variant |
Autism, susceptibility to, 20 [RCV003991078] |
Chr3:174279575 [GRCh38] Chr3:173997365 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.68G>A (p.Arg23Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004643780] |
Chr3:173604666 [GRCh38] Chr3:173322456 [GRCh37] Chr3:3q26.31 |
uncertain significance |
NM_001365925.2(NLGN1):c.247G>A (p.Val83Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004647275] |
Chr3:173604845 [GRCh38] Chr3:173322635 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.2000C>A (p.Thr667Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004647276] |
Chr3:174280771 [GRCh38] Chr3:173998561 [GRCh37] Chr3:3q26.31 |
likely benign |
NM_001365925.2(NLGN1):c.1951T>G (p.Ser651Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004647277] |
Chr3:174280722 [GRCh38] Chr3:173998512 [GRCh37] Chr3:3q26.31 |
uncertain significance |