NM_001039.4(SCNN1G):c.1570-1G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB3, autosomal recessive [RCV002310624] |
Chr16:23215088 [GRCh38] Chr16:23226409 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_001039.4(SCNN1G):c.318-1G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB3, autosomal recessive [RCV002310625] |
Chr16:23189370 [GRCh38] Chr16:23200691 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1627del (p.Val543fs) |
deletion |
Pseudohypoaldosteronism, type IB3, autosomal recessive [RCV002310626] |
Chr16:23215146 [GRCh38] Chr16:23226467 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000764039]|not provided [RCV000519048] |
Chr16:23214768 [GRCh38] Chr16:23226089 [GRCh37] Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) |
single nucleotide variant |
Liddle syndrome 2 [RCV000009372] |
Chr16:23215237 [GRCh38] Chr16:23226558 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV000009376]|Liddle syndrome 2 [RCV000328044]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000272918]|SCNN1G-related disorder [RCV003924821]|not provided [RCV000224250]|not specified [RCV000609005] |
Chr16:23189600 [GRCh38] Chr16:23200921 [GRCh37] Chr16:16p12.2 |
pathogenic|benign|likely benign |
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV000009377]|Liddle syndrome 2 [RCV000334111]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000388570]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002490346]|not provided [RCV000713392]|not specified [RCV000250994] |
Chr16:23189642 [GRCh38] Chr16:23200963 [GRCh37] Chr16:16p12.2 |
pathogenic|benign|likely benign |
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 |
copy number gain |
See cases [RCV000051828] |
Chr16:14954894..28306843 [GRCh38] Chr16:15048751..28318164 [GRCh37] Chr16:14956252..28225665 [NCBI36] Chr16:16p13.11-12.1 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 |
copy number gain |
See cases [RCV000051829] |
Chr16:21463739..29249579 [GRCh38] Chr16:21475060..29260900 [GRCh37] Chr16:21382561..29168401 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 |
copy number gain |
See cases [RCV000051842] |
Chr16:21602183..29314373 [GRCh38] Chr16:21613504..29325694 [GRCh37] Chr16:21521005..29233195 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 |
copy number gain |
See cases [RCV000052401] |
Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 |
copy number loss |
See cases [RCV000052519] |
Chr16:21600992..28323344 [GRCh38] Chr16:21612313..28334665 [GRCh37] Chr16:21519814..28242166 [NCBI36] Chr16:16p12.2-12.1 |
pathogenic |
GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 |
copy number gain |
See cases [RCV000053859] |
Chr16:22755932..23546240 [GRCh38] Chr16:22767253..23557561 [GRCh37] Chr16:22674754..23465062 [NCBI36] Chr16:16p12.2 |
uncertain significance |
NM_001039.3(SCNN1G):c.405G>A (p.Arg135=) |
single nucleotide variant |
Malignant melanoma [RCV000071042] |
Chr16:23189458 [GRCh38] Chr16:23200779 [GRCh37] Chr16:23108280 [NCBI36] Chr16:16p12.2 |
not provided |
NM_001039.3(SCNN1G):c.413G>A (p.Arg138Gln) |
single nucleotide variant |
Malignant melanoma [RCV000071043] |
Chr16:23189466 [GRCh38] Chr16:23200787 [GRCh37] Chr16:23108288 [NCBI36] Chr16:16p12.2 |
not provided |
NM_001039.3(SCNN1G):c.534G>A (p.Arg178=) |
single nucleotide variant |
Malignant melanoma [RCV000071044] |
Chr16:23189587 [GRCh38] Chr16:23200908 [GRCh37] Chr16:23108409 [NCBI36] Chr16:16p12.2 |
not provided |
NM_001039.3(SCNN1G):c.569C>T (p.Ala190Val) |
single nucleotide variant |
Malignant melanoma [RCV000071045] |
Chr16:23189622 [GRCh38] Chr16:23200943 [GRCh37] Chr16:23108444 [NCBI36] Chr16:16p12.2 |
not provided |
NM_001039.3(SCNN1G):c.1067G>A (p.Gly356Glu) |
single nucleotide variant |
Malignant melanoma [RCV000071046] |
Chr16:23197417 [GRCh38] Chr16:23208738 [GRCh37] Chr16:23116239 [NCBI36] Chr16:16p12.2 |
not provided |
NM_001039.3(SCNN1G):c.334C>T (p.His112Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000063003] |
Chr16:23189387 [GRCh38] Chr16:23200708 [GRCh37] Chr16:23108209 [NCBI36] Chr16:16p12.2 |
not provided |
NM_001039.3(SCNN1G):c.1013C>T (p.Pro338Leu) |
single nucleotide variant |
Malignant melanoma [RCV000063004] |
Chr16:23197363 [GRCh38] Chr16:23208684 [GRCh37] Chr16:23116185 [NCBI36] Chr16:16p12.2 |
not provided |
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1824T>C (p.Ala608=) |
single nucleotide variant |
not provided [RCV000174502] |
Chr16:23215343 [GRCh38] Chr16:23226664 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 |
copy number gain |
See cases [RCV000135594] |
Chr16:22634385..29227323 [GRCh38] Chr16:22645706..29238644 [GRCh37] Chr16:22553207..29146145 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 |
copy number gain |
See cases [RCV000140235] |
Chr16:21350622..29202837 [GRCh38] Chr16:21361943..29214158 [GRCh37] Chr16:21269444..29121659 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000383542]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000328934]|not provided [RCV000710224]|not specified [RCV000151819] |
Chr16:23189440 [GRCh38] Chr16:23200761 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000300778]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000355585]|not provided [RCV000710225]|not specified [RCV000151820] |
Chr16:23189527 [GRCh38] Chr16:23200848 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000293041]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000387398]|not provided [RCV000713391]|not specified [RCV000151821] |
Chr16:23189602 [GRCh38] Chr16:23200923 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1432-7G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001807095]|Liddle syndrome 2 [RCV000316196]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000277495]|not provided [RCV000713395]|not specified [RCV000151822] |
Chr16:23213095 [GRCh38] Chr16:23224416 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1176+14A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001807096]|Liddle syndrome 2 [RCV000391223]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000309447]|not provided [RCV001594858]|not specified [RCV000151823] |
Chr16:23209862 [GRCh38] Chr16:23221183 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001807097]|Liddle syndrome 2 [RCV000348242]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000309769]|not provided [RCV000710223]|not specified [RCV000151824] |
Chr16:23215466 [GRCh38] Chr16:23226787 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000335344]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000280259]|not provided [RCV000713393]|not specified [RCV000155573] |
Chr16:23192369 [GRCh38] Chr16:23203690 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000341572]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000284257]|SCNN1G-related disorder [RCV003930124]|not provided [RCV000725881]|not specified [RCV000278515] |
Chr16:23215094 [GRCh38] Chr16:23226415 [GRCh37] Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207226] |
Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*659T>C |
single nucleotide variant |
Liddle syndrome 2 [RCV000398594]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000300448]|not provided [RCV001613023] |
Chr16:23216128 [GRCh38] Chr16:23227449 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*675A>G |
single nucleotide variant |
Liddle syndrome 2 [RCV000265167]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000357562]|not provided [RCV001653559] |
Chr16:23216144 [GRCh38] Chr16:23227465 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*1369C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV000283583]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000340876]|not provided [RCV001675808] |
Chr16:23216838 [GRCh38] Chr16:23228159 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000407520]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000302328]|not provided [RCV003417993] |
Chr16:23189530 [GRCh38] Chr16:23200851 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) |
single nucleotide variant |
Liddle syndrome 2 [RCV000361738]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000266905]|not provided [RCV002508210] |
Chr16:23189591 [GRCh38] Chr16:23200912 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.-31A>G |
single nucleotide variant |
Liddle syndrome 2 [RCV000322965]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000267876]|not provided [RCV001653557] |
Chr16:23186241 [GRCh38] Chr16:23186241..23186242 [GRCh38] Chr16:23197562 [GRCh37] Chr16:23197562..23197563 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*268G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000379066]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000268141]|not provided [RCV001613022] |
Chr16:23215737 [GRCh38] Chr16:23227058 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*789T>C |
single nucleotide variant |
Liddle syndrome 2 [RCV000362088]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000305014]|not provided [RCV004715949] |
Chr16:23216258 [GRCh38] Chr16:23227579 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*789_*790delinsCT |
indel |
Liddle syndrome 1 [RCV000269807]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000327157] |
Chr16:23216258..23216259 [GRCh38] Chr16:23227579..23227580 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.-23G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000287935]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000382328] |
Chr16:23186249 [GRCh38] Chr16:23197570 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001200889]|Liddle syndrome 2 [RCV000287850]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000379928]|SCNN1G-related disorder [RCV004760478]|not provided [RCV002522828]|not specified [RCV004689716] |
Chr16:23215108 [GRCh38] Chr16:23226429 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.*572A>G |
single nucleotide variant |
Liddle syndrome 2 [RCV000347941]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000290607]|not provided [RCV001690059] |
Chr16:23216041 [GRCh38] Chr16:23227362 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*790C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV000365324]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000273125]|not provided [RCV004715058] |
Chr16:23216259 [GRCh38] Chr16:23227580 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001329526]|Liddle syndrome 2 [RCV000366583]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000274328]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002495002] |
Chr16:23212044 [GRCh38] Chr16:23223365 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000348767]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000293883] |
Chr16:23189452 [GRCh38] Chr16:23200773 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000390088]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000294984]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002495001]|not provided [RCV000971805]|not specified [RCV000602942] |
Chr16:23189488 [GRCh38] Chr16:23200809 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_001039.4(SCNN1G):c.*154G>T |
single nucleotide variant |
Liddle syndrome 2 [RCV000259732]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000370678] |
Chr16:23215623 [GRCh38] Chr16:23226944 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*1147A>G |
single nucleotide variant |
Liddle syndrome 2 [RCV000333799]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000295220] |
Chr16:23216616 [GRCh38] Chr16:23227937 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000262450]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000373430]|not provided [RCV000934297] |
Chr16:23213122 [GRCh38] Chr16:23224443 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.*606T>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000297822]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000336441]|not provided [RCV001653558] |
Chr16:23216075 [GRCh38] Chr16:23227396 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*236C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV000263142]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000320650]|not provided [RCV001683282] |
Chr16:23215705 [GRCh38] Chr16:23227026 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*1198A>T |
single nucleotide variant |
Liddle syndrome 2 [RCV000372061]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000279853] |
Chr16:23216667 [GRCh38] Chr16:23227988 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_001039.4(SCNN1G):c.*159T>G |
single nucleotide variant |
Liddle syndrome 2 [RCV000298351]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000355503]|not provided [RCV001672521] |
Chr16:23215628 [GRCh38] Chr16:23226949 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1569+10G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000319801]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000376818]|not provided [RCV000713396] |
Chr16:23214797 [GRCh38] Chr16:23226118 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.146_149dup (p.Leu51fs) |
duplication |
not provided [RCV000271903] |
Chr16:23186414..23186415 [GRCh38] Chr16:23197735..23197736 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_001039.4(SCNN1G):c.342A>G (p.Leu114=) |
single nucleotide variant |
not provided [RCV000336032] |
Chr16:23189395 [GRCh38] Chr16:23200716 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.-44-4C>G |
single nucleotide variant |
Liddle syndrome 2 [RCV000321774]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000376481]|not provided [RCV001540327] |
Chr16:23186224 [GRCh38] Chr16:23197545 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000281595]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000400255] |
Chr16:23192396 [GRCh38] Chr16:23203717 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) |
single nucleotide variant |
Liddle syndrome 2 [RCV000398385]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000345193]|SCNN1G-related disorder [RCV003969899]|not provided [RCV002522829] |
Chr16:23215346 [GRCh38] Chr16:23226667 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.*328G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000325546]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000382449] |
Chr16:23215797 [GRCh38] Chr16:23227118 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) |
single nucleotide variant |
Liddle syndrome 2 [RCV000326894]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000362908]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002480141]|not provided [RCV002522827] |
Chr16:23189592 [GRCh38] Chr16:23200913 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) |
single nucleotide variant |
Liddle syndrome 2 [RCV000306115]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000363169] |
Chr16:23209755 [GRCh38] Chr16:23221076 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*1370G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000401574]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000306591] |
Chr16:23216839 [GRCh38] Chr16:23228160 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.*979T>C |
single nucleotide variant |
Liddle syndrome 2 [RCV000330550]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000387406] |
Chr16:23216448 [GRCh38] Chr16:23227769 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.699C>T (p.His233=) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002494851]|not provided [RCV000893341]|not specified [RCV000283771] |
Chr16:23192432 [GRCh38] Chr16:23203753 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_001039.4(SCNN1G):c.*106G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000393531]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000313805]|not provided [RCV004715057] |
Chr16:23215575 [GRCh38] Chr16:23226896 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004021648]|Liddle syndrome 2 [RCV000407524]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000335799] |
Chr16:23189499 [GRCh38] Chr16:23200820 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*1261G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000400777]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000337435]|not provided [RCV002278427] |
Chr16:23216730 [GRCh38] Chr16:23228051 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) |
single nucleotide variant |
Liddle syndrome 2 [RCV000399950]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000341227]|not provided [RCV000713394]|not specified [RCV003479098] |
Chr16:23192509 [GRCh38] Chr16:23203830 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) |
single nucleotide variant |
Liddle syndrome 2 [RCV000369883]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000331483] |
Chr16:23212841 [GRCh38] Chr16:23224162 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*584G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV000386031]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000294130] |
Chr16:23216053 [GRCh38] Chr16:23227374 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*597dup |
duplication |
Liddle syndrome 1 [RCV000390316]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000351489] |
Chr16:23216065..23216066 [GRCh38] Chr16:23227386..23227387 [GRCh37] Chr16:16p12.2 |
likely benign |
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 |
copy number gain |
See cases [RCV000449403] |
Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 |
copy number gain |
See cases [RCV000511587] |
Chr16:22718350..28858721 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 |
copy number loss |
See cases [RCV000511271] |
Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001039.4(SCNN1G):c.1465G>C (p.Gly489Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003244783] |
Chr16:23213135 [GRCh38] Chr16:23224456 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 |
copy number gain |
See cases [RCV000512428] |
Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 |
copy number gain |
See cases [RCV000512478] |
Chr16:21379628..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1699C>T (p.Gln567Ter) |
single nucleotide variant |
Liddle syndrome 2 [RCV000680189] |
Chr16:23215218 [GRCh38] Chr16:23226539 [GRCh37] Chr16:16p12.2 |
pathogenic |
N530S |
single nucleotide variant |
Liddle syndrome 2 [RCV000684753] |
Chr16:16p12.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) |
deletion |
Liddle syndrome 2 [RCV000684754] |
Chr16:23215268..23215272 [GRCh38] Chr16:23226589..23226593 [GRCh37] Chr16:16p12.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 |
copy number loss |
not provided [RCV000683786] |
Chr16:21379628..29379768 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_001039.4(SCNN1G):c.1119G>A (p.Thr373=) |
single nucleotide variant |
not provided [RCV000895670] |
Chr16:23209791 [GRCh38] Chr16:23221112 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1294+252C>G |
single nucleotide variant |
not provided [RCV001690883] |
Chr16:23212403 [GRCh38] Chr16:23223724 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.317+280G>A |
single nucleotide variant |
not provided [RCV001668061] |
Chr16:23186868 [GRCh38] Chr16:23198189 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 |
copy number loss |
Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] |
Chr16:21475039..29043958 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1493+110dup |
duplication |
not provided [RCV001566756] |
Chr16:23213252..23213253 [GRCh38] Chr16:23224573..23224574 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1177-55T>C |
single nucleotide variant |
not provided [RCV001609955] |
Chr16:23211979 [GRCh38] Chr16:23223300 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.420G>A (p.Ala140=) |
single nucleotide variant |
not provided [RCV000928140] |
Chr16:23189473 [GRCh38] Chr16:23200794 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1570-9G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002503061]|not provided [RCV000969671]|not specified [RCV001283514] |
Chr16:23215080 [GRCh38] Chr16:23226401 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_001039.4(SCNN1G):c.159C>T (p.Arg53=) |
single nucleotide variant |
not provided [RCV000905308] |
Chr16:23186430 [GRCh38] Chr16:23197751 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002503138]|not provided [RCV000983022] |
Chr16:23194180 [GRCh38] Chr16:23205501 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) |
single nucleotide variant |
Liddle syndrome 2 [RCV001121616]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121615]|not provided [RCV000996237] |
Chr16:23213146 [GRCh38] Chr16:23224467 [GRCh37] Chr16:16p12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001039.4(SCNN1G):c.1382A>T (p.Glu461Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003246582] |
Chr16:23212845 [GRCh38] Chr16:23224166 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1697G>A (p.Trp566Ter) |
single nucleotide variant |
not provided [RCV000993039] |
Chr16:23215216 [GRCh38] Chr16:23226537 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) |
duplication |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000991457] |
Chr16:23186410..23186411 [GRCh38] Chr16:23197731..23197732 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.*230C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001119743]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001119744] |
Chr16:23215699 [GRCh38] Chr16:23227020 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_001039.4(SCNN1G):c.*99C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001118194]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118195] |
Chr16:23215568 [GRCh38] Chr16:23226889 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*789T>G |
single nucleotide variant |
Liddle syndrome 2 [RCV001119838]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118309] |
Chr16:23216258 [GRCh38] Chr16:23227579 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) |
single nucleotide variant |
Liddle syndrome 2 [RCV001116638]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001116637] |
Chr16:23189642 [GRCh38] Chr16:23200963 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) |
single nucleotide variant |
Liddle syndrome 2 [RCV001116747]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001116746] |
Chr16:23215243 [GRCh38] Chr16:23226564 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) |
single nucleotide variant |
Liddle syndrome 2 [RCV001116748]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118191] |
Chr16:23215360 [GRCh38] Chr16:23226681 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) |
single nucleotide variant |
Liddle syndrome 2 [RCV001117991]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001116538] |
Chr16:23186319 [GRCh38] Chr16:23197640 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 |
copy number gain |
not provided [RCV001249228] |
Chr16:21312200..29646379 [GRCh37] Chr16:16p12.2-11.2 |
not provided |
NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003273326] |
Chr16:23189379 [GRCh38] Chr16:23200700 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*909C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001119840]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001119839]|not provided [RCV004693745] |
Chr16:23216378 [GRCh38] Chr16:23227699 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1741T>C (p.Cys581Arg) |
single nucleotide variant |
not provided [RCV003104475] |
Chr16:23215260 [GRCh38] Chr16:23226581 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1177-93G>A |
single nucleotide variant |
not provided [RCV001659459] |
Chr16:23211941 [GRCh38] Chr16:23223262 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1493+110_1493+111insTA |
insertion |
not provided [RCV001652782] |
Chr16:23213273..23213274 [GRCh38] Chr16:23224594..23224595 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1569+140G>A |
single nucleotide variant |
not provided [RCV001560681] |
Chr16:23214927 [GRCh38] Chr16:23226248 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1078-229C>T |
single nucleotide variant |
not provided [RCV001692579] |
Chr16:23209521 [GRCh38] Chr16:23220842 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.318-239T>A |
single nucleotide variant |
not provided [RCV001639507] |
Chr16:23189132 [GRCh38] Chr16:23200453 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1176+69A>G |
single nucleotide variant |
not provided [RCV001714693] |
Chr16:23209917 [GRCh38] Chr16:23221238 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.619-226G>A |
single nucleotide variant |
not provided [RCV001676633] |
Chr16:23192126 [GRCh38] Chr16:23203447 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*1243C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001121822]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121821] |
Chr16:23216712 [GRCh38] Chr16:23228033 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1177-7C>T |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001007585] |
Chr16:23212027 [GRCh38] Chr16:23223348 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*591G>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001116856]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001116857] |
Chr16:23216060 [GRCh38] Chr16:23227381 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000989544] |
Chr16:23189629 [GRCh38] Chr16:23200950 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002479053]|not provided [RCV000911884] |
Chr16:23213125 [GRCh38] Chr16:23224446 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1294+100G>A |
single nucleotide variant |
not provided [RCV001551535] |
Chr16:23212251 [GRCh38] Chr16:23223572 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr) |
single nucleotide variant |
Liddle syndrome 2 [RCV004815585]|not provided [RCV001665519] |
Chr16:23215458 [GRCh38] Chr16:23226779 [GRCh37] Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001039.4(SCNN1G):c.1493+214T>C |
single nucleotide variant |
not provided [RCV001676446] |
Chr16:23213377 [GRCh38] Chr16:23224698 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1278_1288del (p.Gln427fs) |
deletion |
not provided [RCV001008906] |
Chr16:23212132..23212142 [GRCh38] Chr16:23223453..23223463 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.1373+29T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001807469]|Liddle syndrome 2 [RCV001807470]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807468]|not provided [RCV001651378] |
Chr16:23212785 [GRCh38] Chr16:23224106 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.913+62G>C |
single nucleotide variant |
not provided [RCV001720426] |
Chr16:23194336 [GRCh38] Chr16:23205657 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.810-203AG[2] |
microsatellite |
not provided [RCV001639399] |
Chr16:23193968..23193969 [GRCh38] Chr16:23205289..23205290 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1493+33T>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001807462]|Liddle syndrome 2 [RCV001807463]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807461]|not provided [RCV001641445] |
Chr16:23213196 [GRCh38] Chr16:23224517 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) |
single nucleotide variant |
Liddle syndrome 2 [RCV001118082]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118083] |
Chr16:23197290 [GRCh38] Chr16:23208611 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1400G>A (p.Ser467Asn) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001542420] |
Chr16:23212863 [GRCh38] Chr16:23224184 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.318-99T>C |
single nucleotide variant |
not provided [RCV001670448] |
Chr16:23189272 [GRCh38] Chr16:23200593 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 |
copy number gain |
not provided [RCV001006786] |
Chr16:21576802..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.619-273dup |
duplication |
not provided [RCV001640943] |
Chr16:23192078..23192079 [GRCh38] Chr16:23203399..23203400 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.618+106T>C |
single nucleotide variant |
not provided [RCV001681047] |
Chr16:23189777 [GRCh38] Chr16:23201098 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.317+145C>T |
single nucleotide variant |
not provided [RCV001692966] |
Chr16:23186733 [GRCh38] Chr16:23198054 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.*491G>A |
single nucleotide variant |
Liddle syndrome 2 [RCV001116855]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121718] |
Chr16:23215960 [GRCh38] Chr16:23227281 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) |
single nucleotide variant |
Liddle syndrome 2 [RCV001118193]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118192]|not provided [RCV002556514] |
Chr16:23215380 [GRCh38] Chr16:23226701 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_001039.4(SCNN1G):c.*1273C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001121823]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115255] |
Chr16:23216742 [GRCh38] Chr16:23228063 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.*1287C>T |
single nucleotide variant |
Liddle syndrome 2 [RCV001115256]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115257] |
Chr16:23216756 [GRCh38] Chr16:23228077 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) |
single nucleotide variant |
Liddle syndrome 2 [RCV001121617]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121618] |
Chr16:23214781 [GRCh38] Chr16:23226102 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) |
single nucleotide variant |
Liddle syndrome 2 [RCV001117992]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117993]|not provided [RCV003546627] |
Chr16:23186403 [GRCh38] Chr16:23197724 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_001039.4(SCNN1G):c.*393T>C |
single nucleotide variant |
Liddle syndrome 2 [RCV001121716]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121717] |
Chr16:23215862 [GRCh38] Chr16:23227183 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) |
copy number gain |
Microcephaly [RCV001252948] |
Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1468C>T (p.Arg490Trp) |
single nucleotide variant |
not provided [RCV003480170] |
Chr16:23213138 [GRCh38] Chr16:23224459 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001804243] |
Chr16:23189617 [GRCh38] Chr16:23200938 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1176+238G>A |
single nucleotide variant |
not provided [RCV001641623] |
Chr16:23210086 [GRCh38] Chr16:23221407 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 |
copy number gain |
See cases [RCV001263169] |
Chr16:2959279..30190593 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
NM_001039.4(SCNN1G):c.1284C>T (p.His428=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001337104] |
Chr16:23212141 [GRCh38] Chr16:23223462 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NC_000016.9:g.21530207_29332245del |
deletion |
not provided [RCV001030428] |
Chr16:21530207..29332245 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001376135]|Inborn genetic diseases [RCV003264028] |
Chr16:23215173 [GRCh38] Chr16:23226494 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001449732] |
Chr16:23212701 [GRCh38] Chr16:23224022 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.1494-49A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001807489]|Liddle syndrome 2 [RCV001807490]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807488]|not provided [RCV001666352] |
Chr16:23214663 [GRCh38] Chr16:23225984 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV001543672]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002476850]|not provided [RCV003542345] |
Chr16:23214750 [GRCh38] Chr16:23226071 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1078-232G>C |
single nucleotide variant |
not provided [RCV001688329] |
Chr16:23209518 [GRCh38] Chr16:23220839 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.913+50T>C |
single nucleotide variant |
not provided [RCV001669992] |
Chr16:23194324 [GRCh38] Chr16:23205645 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1176+210T>C |
single nucleotide variant |
not provided [RCV001696022] |
Chr16:23210058 [GRCh38] Chr16:23221379 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1177-197G>A |
single nucleotide variant |
not provided [RCV001671637] |
Chr16:23211837 [GRCh38] Chr16:23223158 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.-44-247C>T |
single nucleotide variant |
not provided [RCV001698683] |
Chr16:23185981 [GRCh38] Chr16:23197302 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.317+264C>T |
single nucleotide variant |
not provided [RCV001708600] |
Chr16:23186852 [GRCh38] Chr16:23198173 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.1177-122G>T |
single nucleotide variant |
not provided [RCV001536318] |
Chr16:23211912 [GRCh38] Chr16:23223233 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002489800]|not provided [RCV001763903] |
Chr16:23189523 [GRCh38] Chr16:23200844 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NC_000016.10:g.23217001C>T |
single nucleotide variant |
not provided [RCV001786299] |
Chr16:23217001 [GRCh38] Chr16:23228322 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.412C>T (p.Arg138Ter) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV004798928]|not provided [RCV001784950] |
Chr16:23189465 [GRCh38] Chr16:23200786 [GRCh37] Chr16:16p12.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 |
copy number loss |
not provided [RCV001795549] |
Chr16:21594997..29625302 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg) |
single nucleotide variant |
not provided [RCV001758321] |
Chr16:23215393 [GRCh38] Chr16:23226714 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.619-78G>T |
single nucleotide variant |
not provided [RCV002225974] |
Chr16:23192274 [GRCh38] Chr16:23203595 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.318-17C>T |
single nucleotide variant |
not provided [RCV002148922] |
Chr16:23189354 [GRCh38] Chr16:23200675 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.*885G>A |
single nucleotide variant |
not provided [RCV002223376] |
Chr16:23216354 [GRCh38] Chr16:23227675 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1016T>G (p.Phe339Cys) |
single nucleotide variant |
not specified [RCV002248184] |
Chr16:23197366 [GRCh38] Chr16:23208687 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NC_000016.9:g.(?_23193865)_(23652612_?)del |
deletion |
COG7 congenital disorder of glycosylation [RCV003113761] |
Chr16:23193865..23652612 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1720G>C (p.Ala574Pro) |
single nucleotide variant |
not provided [RCV003152073] |
Chr16:23215239 [GRCh38] Chr16:23226560 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.-44-233_-44-231del |
deletion |
not provided [RCV002272121] |
Chr16:23185995..23185997 [GRCh38] Chr16:23197316..23197318 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.-44-244_-44-236del |
deletion |
not provided [RCV002272120] |
Chr16:23185984..23185992 [GRCh38] Chr16:23197305..23197313 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn) |
single nucleotide variant |
Liddle syndrome 2 [RCV003150913]|not provided [RCV003548990] |
Chr16:23192370 [GRCh38] Chr16:23203691 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV003150902] |
Chr16:23186472 [GRCh38] Chr16:23197793 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1555A>G (p.Ser519Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003012924] |
Chr16:23214773 [GRCh38] Chr16:23226094 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 |
copy number gain |
not provided [RCV002472599] |
Chr16:4380767..30445350 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 |
copy number gain |
not provided [RCV002474541] |
Chr16:21576803..30177240 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_001039.4(SCNN1G):c.1691G>A (p.Arg564His) |
single nucleotide variant |
Myoepithelial tumor [RCV002463966] |
Chr16:23215210 [GRCh38] Chr16:23226531 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.317+18G>C |
single nucleotide variant |
not provided [RCV002771261] |
Chr16:23186606 [GRCh38] Chr16:23197927 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1811C>T (p.Thr604Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002772959] |
Chr16:23215330 [GRCh38] Chr16:23226651 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003250646]|not provided [RCV002975093] |
Chr16:23194196 [GRCh38] Chr16:23205517 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro) |
duplication |
not provided [RCV002967767] |
Chr16:23215297..23215298 [GRCh38] Chr16:23226618..23226619 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe) |
single nucleotide variant |
not provided [RCV003001855] |
Chr16:23189454 [GRCh38] Chr16:23200775 [GRCh37] Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_001039.4(SCNN1G):c.546C>T (p.Val182=) |
single nucleotide variant |
not provided [RCV002621117] |
Chr16:23189599 [GRCh38] Chr16:23200920 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.436G>A (p.Val146Ile) |
single nucleotide variant |
not provided [RCV002976008] |
Chr16:23189489 [GRCh38] Chr16:23200810 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.332G>C (p.Arg111Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002760059] |
Chr16:23189385 [GRCh38] Chr16:23200706 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1018G>T (p.Val340Phe) |
single nucleotide variant |
not provided [RCV002659422] |
Chr16:23197368 [GRCh38] Chr16:23208689 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1427C>G (p.Ser476Trp) |
single nucleotide variant |
not provided [RCV002893852] |
Chr16:23212890 [GRCh38] Chr16:23224211 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1688G>A (p.Arg563His) |
single nucleotide variant |
Inborn genetic diseases [RCV002789759] |
Chr16:23215207 [GRCh38] Chr16:23226528 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1027G>A (p.Val343Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002747760] |
Chr16:23197377 [GRCh38] Chr16:23208698 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1431+14C>T |
single nucleotide variant |
not provided [RCV002714875] |
Chr16:23212908 [GRCh38] Chr16:23224229 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1868C>T (p.Pro623Leu) |
single nucleotide variant |
not provided [RCV002600011] |
Chr16:23215387 [GRCh38] Chr16:23226708 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1373+4T>C |
single nucleotide variant |
not provided [RCV002720726] |
Chr16:23212760 [GRCh38] Chr16:23224081 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.603G>T (p.Val201=) |
single nucleotide variant |
not provided [RCV002635205] |
Chr16:23189656 [GRCh38] Chr16:23200977 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.619-20G>A |
single nucleotide variant |
not provided [RCV002726079] |
Chr16:23192332 [GRCh38] Chr16:23203653 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1122G>A (p.Glu374=) |
single nucleotide variant |
not provided [RCV003072218] |
Chr16:23209794 [GRCh38] Chr16:23221115 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1493+12C>G |
single nucleotide variant |
not provided [RCV002654498] |
Chr16:23213175 [GRCh38] Chr16:23224496 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1576A>T (p.Met526Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003304414] |
Chr16:23215095 [GRCh38] Chr16:23226416 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val) |
single nucleotide variant |
not provided [RCV003136527] |
Chr16:23209754 [GRCh38] Chr16:23221075 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1808C>G (p.Pro603Arg) |
single nucleotide variant |
not provided [RCV003136528] |
Chr16:23215327 [GRCh38] Chr16:23226648 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1319G>A (p.Arg440Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003183865] |
Chr16:23212702 [GRCh38] Chr16:23224023 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1420G>C (p.Val474Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003286671] |
Chr16:23212883 [GRCh38] Chr16:23224204 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003364685] |
Chr16:23209803 [GRCh38] Chr16:23221124 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.913+1G>T |
single nucleotide variant |
not provided [RCV003571167] |
Chr16:23194275 [GRCh38] Chr16:23205596 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.1322C>A (p.Ala441Asp) |
single nucleotide variant |
not provided [RCV003417680] |
Chr16:23212705 [GRCh38] Chr16:23224026 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1295-13C>T |
single nucleotide variant |
not specified [RCV003388532] |
Chr16:23212665 [GRCh38] Chr16:23223986 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr) |
single nucleotide variant |
SCNN1G-related disorder [RCV003414522] |
Chr16:23197422 [GRCh38] Chr16:23208743 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1431+1G>T |
single nucleotide variant |
SCNN1G-related disorder [RCV003416929] |
Chr16:23212895 [GRCh38] Chr16:23224216 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu) |
single nucleotide variant |
SCNN1G-related disorder [RCV003400171] |
Chr16:23215393 [GRCh38] Chr16:23226714 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.132C>G (p.Ile44Met) |
single nucleotide variant |
not provided [RCV003715392] |
Chr16:23186403 [GRCh38] Chr16:23197724 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.410G>A (p.Arg137His) |
single nucleotide variant |
Inborn genetic diseases [RCV004661693]|not provided [RCV003573504] |
Chr16:23189463 [GRCh38] Chr16:23200784 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1944G>C (p.Glu648Asp) |
single nucleotide variant |
not provided [RCV003578961] |
Chr16:23215463 [GRCh38] Chr16:23226784 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1869G>A (p.Pro623=) |
single nucleotide variant |
not provided [RCV003880031] |
Chr16:23215388 [GRCh38] Chr16:23226709 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1923A>G (p.Thr641=) |
single nucleotide variant |
not provided [RCV003665275] |
Chr16:23215442 [GRCh38] Chr16:23226763 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.994C>T (p.His332Tyr) |
single nucleotide variant |
not provided [RCV003699624] |
Chr16:23197344 [GRCh38] Chr16:23208665 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.551G>T (p.Gly184Val) |
single nucleotide variant |
not provided [RCV003580063] |
Chr16:23189604 [GRCh38] Chr16:23200925 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1635C>T (p.Cys545=) |
single nucleotide variant |
not provided [RCV003856610] |
Chr16:23215154 [GRCh38] Chr16:23226475 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1570-6T>C |
single nucleotide variant |
not provided [RCV003814813] |
Chr16:23215083 [GRCh38] Chr16:23226404 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.914-18G>A |
single nucleotide variant |
not provided [RCV003813810] |
Chr16:23197246 [GRCh38] Chr16:23208567 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.988A>G (p.Ile330Val) |
single nucleotide variant |
not provided [RCV003559107] |
Chr16:23197338 [GRCh38] Chr16:23208659 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys) |
single nucleotide variant |
not provided [RCV003724195] |
Chr16:23214768 [GRCh38] Chr16:23226089 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1798G>A (p.Asp600Asn) |
single nucleotide variant |
not provided [RCV003836851] |
Chr16:23215317 [GRCh38] Chr16:23226638 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.819G>A (p.Thr273=) |
single nucleotide variant |
not provided [RCV003813979] |
Chr16:23194180 [GRCh38] Chr16:23205501 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1244C>T (p.Pro415Leu) |
single nucleotide variant |
not provided [RCV003717495] |
Chr16:23212101 [GRCh38] Chr16:23223422 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr) |
single nucleotide variant |
not provided [RCV003837715] |
Chr16:23194257 [GRCh38] Chr16:23205578 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.913+2_913+5dup |
duplication |
not provided [RCV003835109] |
Chr16:23194274..23194275 [GRCh38] Chr16:23205595..23205596 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1078-17TGC[3] |
microsatellite |
Liddle syndrome 2 [RCV004759319]|not provided [RCV003816581] |
Chr16:23209732..23209733 [GRCh38] Chr16:23221053..23221054 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1239C>T (p.Ser413=) |
single nucleotide variant |
not provided [RCV003835587] |
Chr16:23212096 [GRCh38] Chr16:23223417 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.899G>C (p.Gly300Ala) |
single nucleotide variant |
not provided [RCV003728583] |
Chr16:23194260 [GRCh38] Chr16:23205581 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.45G>T (p.Leu15=) |
single nucleotide variant |
not provided [RCV003846219] |
Chr16:23186316 [GRCh38] Chr16:23197637 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1493+15C>T |
single nucleotide variant |
not provided [RCV003823706] |
Chr16:23213178 [GRCh38] Chr16:23224499 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1570-19G>A |
single nucleotide variant |
not provided [RCV003858582] |
Chr16:23215070 [GRCh38] Chr16:23226391 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1860C>T (p.Pro620=) |
single nucleotide variant |
not provided [RCV003722257] |
Chr16:23215379 [GRCh38] Chr16:23226700 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys) |
single nucleotide variant |
not provided [RCV003733369] |
Chr16:23215410 [GRCh38] Chr16:23226731 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.954C>T (p.Asn318=) |
single nucleotide variant |
not provided [RCV003737602] |
Chr16:23197304 [GRCh38] Chr16:23208625 [GRCh37] Chr16:16p12.2 |
benign |
NM_001039.4(SCNN1G):c.843G>C (p.Gly281=) |
single nucleotide variant |
not provided [RCV003853945] |
Chr16:23194204 [GRCh38] Chr16:23205525 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.594C>T (p.Ser198=) |
single nucleotide variant |
not provided [RCV003710026] |
Chr16:23189647 [GRCh38] Chr16:23200968 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.327C>A (p.Thr109=) |
single nucleotide variant |
SCNN1G-related disorder [RCV003979407] |
Chr16:23189380 [GRCh38] Chr16:23200701 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.945G>A (p.Glu315=) |
single nucleotide variant |
SCNN1G-related disorder [RCV003949789] |
Chr16:23197295 [GRCh38] Chr16:23208616 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.1714T>C (p.Trp572Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004454997] |
Chr16:23215233 [GRCh38] Chr16:23226554 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.332G>A (p.Arg111His) |
single nucleotide variant |
Inborn genetic diseases [RCV004454999] |
Chr16:23189385 [GRCh38] Chr16:23200706 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.327C>T (p.Thr109=) |
single nucleotide variant |
not specified [RCV004526471] |
Chr16:23189380 [GRCh38] Chr16:23200701 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_001039.4(SCNN1G):c.457A>G (p.Arg153Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004455000] |
Chr16:23189510 [GRCh38] Chr16:23200831 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1738C>T (p.Pro580Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004454998] |
Chr16:23215257 [GRCh38] Chr16:23226578 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1811C>A (p.Thr604Asn) |
single nucleotide variant |
not provided [RCV004698065] |
Chr16:23215330 [GRCh38] Chr16:23226651 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1281G>T (p.Gln427His) |
single nucleotide variant |
not provided [RCV004794175] |
Chr16:23212138 [GRCh38] Chr16:23223459 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_001039.4(SCNN1G):c.1858C>G (p.Pro620Ala) |
single nucleotide variant |
Liddle syndrome 2 [RCV004764333] |
|
likely pathogenic |