SCNN1B, 1-BP INS, 592C |
insertion |
Liddle syndrome 1 [RCV000009382] |
Chr16:16p13-p12 |
pathogenic |
NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4) |
deletion |
Liddle syndrome 1 [RCV000009383] |
Chr16:23380612..23380643 [GRCh38] Chr16:23391933..23391964 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1543-2A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009387] |
Chr16:23380419 [GRCh38] Chr16:23391740 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1747G>T (p.Glu583Ter) |
single nucleotide variant |
not provided [RCV000516654] |
Chr16:23380625 [GRCh38] Chr16:23391946 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002504771]|Liddle syndrome 1 [RCV000009378]|not provided [RCV000713386] |
Chr16:23380574 [GRCh38] Chr16:23391895 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) |
single nucleotide variant |
Liddle syndrome 1 [RCV000009379]|not provided [RCV000713388] |
Chr16:23380725 [GRCh38] Chr16:23392046 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120139]|Liddle syndrome 1 [RCV001120417]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009380]|Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV002310627] |
Chr16:23348708 [GRCh38] Chr16:23360029 [GRCh37] Chr16:16p12.2 |
pathogenic|benign|uncertain significance |
NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His) |
single nucleotide variant |
Liddle syndrome 1 [RCV000009381] |
Chr16:23380736 [GRCh38] Chr16:23392057 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) |
single nucleotide variant |
Liddle syndrome 1 [RCV000009384]|not provided [RCV003555987] |
Chr16:23380727 [GRCh38] Chr16:23392048 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg) |
single nucleotide variant |
Liddle syndrome 1 [RCV000009385] |
Chr16:23380725 [GRCh38] Chr16:23392046 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009386]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002496312] |
Chr16:23367879 [GRCh38] Chr16:23379200 [GRCh37] Chr16:16p12.2 |
pathogenic|likely pathogenic |
NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009388]|not provided [RCV000393349] |
Chr16:23367959 [GRCh38] Chr16:23379280 [GRCh37] Chr16:16p12.2 |
pathogenic|uncertain significance |
NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009389] |
Chr16:23380493 [GRCh38] Chr16:23391814 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009390]|not provided [RCV003555988] |
Chr16:23371836 [GRCh38] Chr16:23383157 [GRCh37] Chr16:16p12.2 |
pathogenic|uncertain significance |
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009391] |
Chr16:23367942 [GRCh38] Chr16:23379263 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000009392]|Liddle syndrome 1 [RCV001120418]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120419]|SCNN1B-related disorder [RCV003914823]|not provided [RCV000713389]|not specified [RCV000175586] |
Chr16:23348844 [GRCh38] Chr16:23360165 [GRCh37] Chr16:16p12.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
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_000336.2(SCNN1B):c.735G>A (p.Met245Ile) |
single nucleotide variant |
Malignant melanoma [RCV000071047] |
Chr16:23355448 [GRCh38] Chr16:23366769 [GRCh37] Chr16:23274270 [NCBI36] Chr16:16p12.2 |
not provided |
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002493525]|not provided [RCV001290363] |
Chr16:23380610 [GRCh38] Chr16:23391931 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002500469]|not provided [RCV000895424]|not specified [RCV000174469] |
Chr16:23380609 [GRCh38] Chr16:23391930 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.1546G>A (p.Val516Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002541806]|not provided [RCV001290364] |
Chr16:23380424 [GRCh38] Chr16:23391745 [GRCh37] Chr16:16p12.2 |
uncertain significance |
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_000336.3(SCNN1B):c.1663C>T (p.Leu555=) |
single nucleotide variant |
not provided [RCV000174468] |
Chr16:23380541 [GRCh38] Chr16:23391862 [GRCh37] Chr16:16p12.2 |
conflicting interpretations of pathogenicity|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_000336.3(SCNN1B):c.1305G>A (p.Ala435=) |
single nucleotide variant |
not provided [RCV000904588]|not specified [RCV000151815] |
Chr16:23377199 [GRCh38] Chr16:23388520 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000307100]|Liddle syndrome 1 [RCV000361247]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000266524]|not provided [RCV001675638]|not specified [RCV000151814] |
Chr16:23348878 [GRCh38] Chr16:23360199 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000348729]|Liddle syndrome 1 [RCV000398815]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000312543]|not provided [RCV000713385]|not specified [RCV000151816] |
Chr16:23377383 [GRCh38] Chr16:23388704 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.1467-14G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000375553]|Liddle syndrome 1 [RCV000262269]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000320856]|not provided [RCV001668304]|not specified [RCV000151817] |
Chr16:23380080 [GRCh38] Chr16:23391401 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000274463]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002498706]|Liddle syndrome 1 [RCV000389821]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000331370]|SCNN1B-related disorder [RCV003952727]|not provided [RCV000893164]|not specified [RCV000151818] |
Chr16:23380643 [GRCh38] Chr16:23391964 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000330995]|Liddle syndrome 1 [RCV000291151]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000385491]|not provided [RCV000713390]|not specified [RCV000155570] |
Chr16:23367958 [GRCh38] Chr16:23379279 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000300321]|Liddle syndrome 1 [RCV000355118]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000399158]|not provided [RCV003416010]|not specified [RCV000155571] |
Chr16:23375806 [GRCh38] Chr16:23387127 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000281749]|Liddle syndrome 1 [RCV000397070]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000336811]|not provided [RCV000713384]|not specified [RCV000155572] |
Chr16:23377219 [GRCh38] Chr16:23388540 [GRCh37] Chr16:16p12.2 |
benign |
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_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000305202]|Liddle syndrome 1 [RCV000402338]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000344774]|SCNN1B-related disorder [RCV003937856]|not provided [RCV000901498]|not specified [RCV000220161] |
Chr16:23380584 [GRCh38] Chr16:23391905 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.777-5T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000275967]|Liddle syndrome 1 [RCV000316419]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000371088]|SCNN1B-related disorder [RCV003937814]|not provided [RCV000891755]|not specified [RCV000220924] |
Chr16:23367851 [GRCh38] Chr16:23379172 [GRCh37] Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000578168] |
Chr16:23371805 [GRCh38] Chr16:23383126 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs) |
deletion |
not provided [RCV000517767] |
Chr16:23380662 [GRCh38] Chr16:23391983 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000344304]|Liddle syndrome 1 [RCV000291629]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000383556]|SCNN1B-related disorder [RCV003891846]|not provided [RCV000889481]|not specified [RCV000246031] |
Chr16:23380660 [GRCh38] Chr16:23391981 [GRCh37] Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002479958]|not provided [RCV002518574]|not specified [RCV000248527] |
Chr16:23377193 [GRCh38] Chr16:23388514 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1543-17C>T |
single nucleotide variant |
not provided [RCV000710222]|not specified [RCV000249045] |
Chr16:23380404 [GRCh38] Chr16:23391725 [GRCh37] Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile) |
single nucleotide variant |
not provided [RCV000521539] |
Chr16:23371846 [GRCh38] Chr16:23383167 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000265772]|Liddle syndrome 1 [RCV000305530]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000360291]|not provided [RCV002520995] |
Chr16:23378720 [GRCh38] Chr16:23390041 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000301037]|Liddle syndrome 1 [RCV000391939]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000359362] |
Chr16:23355466 [GRCh38] Chr16:23366787 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000394686]|Liddle syndrome 1 [RCV000284147]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000336877]|not provided [RCV000891576]|not specified [RCV001289233] |
Chr16:23380765 [GRCh38] Chr16:23392086 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000285007]|Liddle syndrome 1 [RCV000397823]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000340036]|not provided [RCV000713383] |
Chr16:23375747 [GRCh38] Chr16:23387068 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000343345]|Liddle syndrome 1 [RCV000286095]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000382570]|SCNN1B-related disorder [RCV003940246]|not provided [RCV000912484] |
Chr16:23380761 [GRCh38] Chr16:23392082 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.586-15T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000401503]|Liddle syndrome 1 [RCV000304551]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000345224] |
Chr16:23355284 [GRCh38] Chr16:23366605 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.*278C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000374371]|Liddle syndrome 1 [RCV000320773]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000286820] |
Chr16:23381079 [GRCh38] Chr16:23392400 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000365127]|Liddle syndrome 1 [RCV000310527]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000270676] |
Chr16:23348845 [GRCh38] Chr16:23360166 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1270+14C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000326826]|Liddle syndrome 1 [RCV000381470]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000271759]|not provided [RCV002522833] |
Chr16:23375869 [GRCh38] Chr16:23387190 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.*94G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000327640]|Liddle syndrome 1 [RCV000365907]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000274910] |
Chr16:23380895 [GRCh38] Chr16:23392216 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1270+11G>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000275114]|Liddle syndrome 1 [RCV000366256]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000330301] |
Chr16:23375866 [GRCh38] Chr16:23387187 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000385551]|Liddle syndrome 1 [RCV000352019]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000293600]|SCNN1B-related disorder [RCV003922341]|not provided [RCV000891159] |
Chr16:23380423 [GRCh38] Chr16:23391744 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000293856]|Liddle syndrome 1 [RCV000388075]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000352207]|SCNN1B-related disorder [RCV003940245]|not provided [RCV001171907] |
Chr16:23352955 [GRCh38] Chr16:23364276 [GRCh37] Chr16:16p12.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000372180]|Liddle syndrome 1 [RCV000317498]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000294815]|not provided [RCV002520996] |
Chr16:23380141 [GRCh38] Chr16:23391462 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.1346+8C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000399676]|Liddle syndrome 1 [RCV000278059]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000351861]|not provided [RCV000916155] |
Chr16:23377248 [GRCh38] Chr16:23388569 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000318042]|Liddle syndrome 1 [RCV000372576]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000278132]|not provided [RCV003736715] |
Chr16:23352917 [GRCh38] Chr16:23364238 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000399722]|Inborn genetic diseases [RCV002520998]|Liddle syndrome 1 [RCV000297058]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000354087]|not provided [RCV002522834] |
Chr16:23380778 [GRCh38] Chr16:23392099 [GRCh37] Chr16:16p12.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000333082]|Liddle syndrome 1 [RCV000261497]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000353782]|not provided [RCV000908558] |
Chr16:23380642 [GRCh38] Chr16:23391963 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000359654]|Liddle syndrome 1 [RCV000301289]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000262545]|not provided [RCV000920461] |
Chr16:23380591 [GRCh38] Chr16:23391912 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000262842]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002502240]|Liddle syndrome 1 [RCV000376195]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000321598]|not provided [RCV000881904]|not specified [RCV001289235] |
Chr16:23348881 [GRCh38] Chr16:23360202 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.1404+15G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000308877]|Liddle syndrome 1 [RCV000363805]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000269225] |
Chr16:23377401 [GRCh38] Chr16:23388722 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000395462]|Liddle syndrome 1 [RCV000306294]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000346058]|not provided [RCV002520997] |
Chr16:23380564 [GRCh38] Chr16:23391885 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.561C>T (p.His187=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000348803]|Liddle syndrome 1 [RCV000309103]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000395260]|not provided [RCV003114480] |
Chr16:23353050 [GRCh38] Chr16:23364371 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.2(SCNN1B):c.-150C>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000311627]|Liddle syndrome 1 [RCV000400480]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000368761] |
Chr16:23302296 [GRCh38] Chr16:23313617 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000313964]|Liddle syndrome 1 [RCV000390237]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000350003] |
Chr16:23348758 [GRCh38] Chr16:23360079 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.*20G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000366871]|Liddle syndrome 1 [RCV000401685]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000314495] |
Chr16:23380821 [GRCh38] Chr16:23392142 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000369771]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002495003]|Liddle syndrome 1 [RCV000401078]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000315485]|not provided [RCV000913285] |
Chr16:23375842 [GRCh38] Chr16:23387163 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.*187G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000268991]|Liddle syndrome 1 [RCV000378896]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000326589] |
Chr16:23380988 [GRCh38] Chr16:23392309 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1738G>T (p.Glu580Ter) |
single nucleotide variant |
not provided [RCV000523965] |
Chr16:23380616 [GRCh38] Chr16:23391937 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002493463]|Liddle syndrome 1 [RCV001270870] |
Chr16:23353019 [GRCh38] Chr16:23364340 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1271-10T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV000287155]|Liddle syndrome 1 [RCV000376265]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000321654] |
Chr16:23377155 [GRCh38] Chr16:23388476 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002476287]|not provided [RCV000596123] |
Chr16:23371321 [GRCh38] Chr16:23382642 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120922]|Liddle syndrome 1 [RCV001120924]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120923]|not provided [RCV002556598] |
Chr16:23380667 [GRCh38] Chr16:23391988 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120622]|Liddle syndrome 1 [RCV001120623]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120624] |
Chr16:23371336 [GRCh38] Chr16:23382657 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120820]|Liddle syndrome 1 [RCV001120821]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120822] |
Chr16:23380438 [GRCh38] Chr16:23391759 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120222]|Liddle syndrome 1 [RCV001120223]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120221] |
Chr16:23352956 [GRCh38] Chr16:23364277 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1595G>A (p.Gly532Asp) |
single nucleotide variant |
not specified [RCV000518568] |
Chr16:23380473 [GRCh38] Chr16:23391794 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002506417]|not provided [RCV000594991]|not specified [RCV003317295] |
Chr16:23380782 [GRCh38] Chr16:23392103 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.2(chr16:23315377-23355254)x3 |
copy number gain |
See cases [RCV000449184] |
Chr16:23315377..23355254 [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 16p12.2(chr16:23291211-23322012)x3 |
copy number gain |
See cases [RCV000446155] |
Chr16:23291211..23322012 [GRCh37] Chr16:16p12.2 |
uncertain significance |
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 |
NM_000336.3(SCNN1B):c.585+3A>C |
single nucleotide variant |
not provided [RCV003318118] |
Chr16:23353077 [GRCh38] Chr16:23364398 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.278C>G (p.Pro93Arg) |
single nucleotide variant |
not provided [RCV000584958] |
Chr16:23348877 [GRCh38] Chr16:23360198 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1554G>A (p.Leu518=) |
single nucleotide variant |
not specified [RCV000601262] |
Chr16:23380432 [GRCh38] Chr16:23391753 [GRCh37] Chr16:16p12.2 |
likely benign |
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 16p12.3-11.2(chr16:18238275-30177240)x3 |
copy number gain |
See cases [RCV000512428] |
Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1594G>A (p.Gly532Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV000622350] |
Chr16:23380472 [GRCh38] Chr16:23391793 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.833del (p.Gly278fs) |
deletion |
not provided [RCV000513425] |
Chr16:23367909 [GRCh38] Chr16:23379230 [GRCh37] Chr16:16p12.2 |
likely 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 |
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 |
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 16p12.2(chr16:23301285-23387637)x1 |
copy number loss |
not provided [RCV000683796] |
Chr16:23301285..23387637 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln) |
single nucleotide variant |
Low renin, low aldosterone hypertension [RCV000680441] |
Chr16:23380566 [GRCh38] Chr16:23391887 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.1790_1791dup (p.Ser598fs) |
duplication |
not provided [RCV000713387] |
Chr16:23380666..23380667 [GRCh38] Chr16:23391987..23391988 [GRCh37] Chr16:16p12.2 |
pathogenic |
NC_000016.9:g.21530207_29332245del |
deletion |
not provided [RCV001030428] |
Chr16:21530207..29332245 [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 |
GRCh37/hg19 16p12.2(chr16:23347304-23534098)x3 |
copy number gain |
not provided [RCV000739106] |
Chr16:23347304..23534098 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1271-71G>C |
single nucleotide variant |
not provided [RCV001535163] |
Chr16:23377094 [GRCh38] Chr16:23388415 [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_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115711]|Liddle syndrome 1 [RCV001115713]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115712] |
Chr16:23371800 [GRCh38] Chr16:23383121 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1035G>A (p.Gly345=) |
single nucleotide variant |
not provided [RCV000982142] |
Chr16:23371453 [GRCh38] Chr16:23382774 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002489418]|SCNN1B-related disorder [RCV003960853]|not provided [RCV000972526]|not specified [RCV001664580] |
Chr16:23348746 [GRCh38] Chr16:23360067 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.1044+9G>A |
single nucleotide variant |
not provided [RCV000901193] |
Chr16:23371471 [GRCh38] Chr16:23382792 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002502771]|not provided [RCV000916251] |
Chr16:23348776 [GRCh38] Chr16:23360097 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002505309]|not provided [RCV000902017] |
Chr16:23375775 [GRCh38] Chr16:23387096 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1271-5C>T |
single nucleotide variant |
not provided [RCV000936764] |
Chr16:23377160 [GRCh38] Chr16:23388481 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1781C>T (p.Thr594Met) |
single nucleotide variant |
not provided [RCV000881905]|not specified [RCV000825087] |
Chr16:23380659 [GRCh38] Chr16:23391980 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001117137]|Inborn genetic diseases [RCV002556487]|Liddle syndrome 1 [RCV001117139]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117138]|not provided [RCV002558158] |
Chr16:23375814 [GRCh38] Chr16:23387135 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115888]|Liddle syndrome 1 [RCV001115887]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120823] |
Chr16:23380438 [GRCh38] Chr16:23391759 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.*241G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001119053]|Liddle syndrome 1 [RCV001119054]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001119055] |
Chr16:23381042 [GRCh38] Chr16:23392363 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1542+1G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003229567]|SCNN1B-related disorder [RCV004751879]|not provided [RCV001090340] |
Chr16:23380170 [GRCh38] Chr16:23391491 [GRCh37] Chr16:16p12.2 |
pathogenic|likely pathogenic |
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) |
single nucleotide variant |
Liddle syndrome 1 [RCV000787042] |
Chr16:23380638 [GRCh38] Chr16:23391959 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.6C>T (p.His2=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120137]|Liddle syndrome 1 [RCV001120138]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120136]|SCNN1B-related disorder [RCV003953497]|not provided [RCV002558190] |
Chr16:23348605 [GRCh38] Chr16:23359926 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120627]|Liddle syndrome 1 [RCV001120626]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120625]|not provided [RCV002556592] |
Chr16:23371423 [GRCh38] Chr16:23382744 [GRCh37] Chr16:16p12.2 |
benign|likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.776+9C>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115617]|Liddle syndrome 1 [RCV001115618]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115619] |
Chr16:23355498 [GRCh38] Chr16:23366819 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1554G>C (p.Leu518=) |
single nucleotide variant |
not provided [RCV000976066] |
Chr16:23380432 [GRCh38] Chr16:23391753 [GRCh37] Chr16:16p12.2 |
likely benign |
GRCh37/hg19 16p12.2(chr16:23352066-23457583)x3 |
copy number gain |
not provided [RCV000848997] |
Chr16:23352066..23457583 [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_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser) |
single nucleotide variant |
not provided [RCV000993038] |
Chr16:23380730 [GRCh38] Chr16:23392051 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val) |
single nucleotide variant |
Liddle syndrome 1 [RCV001250510] |
Chr16:23375841 [GRCh38] Chr16:23387162 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1404+7C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001117230]|Liddle syndrome 1 [RCV001117231]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117229]|SCNN1B-related disorder [RCV003945827]|not provided [RCV003546626] |
Chr16:23377393 [GRCh38] Chr16:23388714 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.241G>A (p.Val81Ile) |
single nucleotide variant |
not provided [RCV004787456] |
Chr16:23348840 [GRCh38] Chr16:23360161 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1404+219del |
deletion |
not provided [RCV001568457] |
Chr16:23377604 [GRCh38] Chr16:23388925 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.585+228A>C |
single nucleotide variant |
not provided [RCV001551705] |
Chr16:23353302 [GRCh38] Chr16:23364623 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1404+222T>C |
single nucleotide variant |
not provided [RCV001566938] |
Chr16:23377608 [GRCh38] Chr16:23388929 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.-9+238C>G |
single nucleotide variant |
not provided [RCV001657318] |
Chr16:23302675 [GRCh38] Chr16:23313996 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1045-130C>T |
single nucleotide variant |
not provided [RCV001695248] |
Chr16:23371646 [GRCh38] Chr16:23382967 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1270+217G>A |
single nucleotide variant |
not provided [RCV001682436] |
Chr16:23376072 [GRCh38] Chr16:23387393 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.776+41C>T |
single nucleotide variant |
not provided [RCV001558432] |
Chr16:23355530 [GRCh38] Chr16:23366851 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=) |
single nucleotide variant |
not provided [RCV000888087] |
Chr16:23355370 [GRCh38] Chr16:23366691 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1045-114del |
deletion |
not provided [RCV001537289] |
Chr16:23371662 [GRCh38] Chr16:23382983 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr) |
single nucleotide variant |
SCNN1B-related disorder [RCV003960854]|not provided [RCV000972527]|not specified [RCV001664581] |
Chr16:23348780 [GRCh38] Chr16:23360101 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1869G>T (p.Leu623=) |
single nucleotide variant |
not provided [RCV000931292] |
Chr16:23380747 [GRCh38] Chr16:23392068 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115715]|Liddle syndrome 1 [RCV001117136]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115714] |
Chr16:23375784 [GRCh38] Chr16:23387105 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115795]|Inborn genetic diseases [RCV002556282]|Liddle syndrome 1 [RCV001115797]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115796]|not provided [RCV001786435] |
Chr16:23377358 [GRCh38] Chr16:23388679 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115997]|Liddle syndrome 1 [RCV001115998]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115999] |
Chr16:23380668 [GRCh38] Chr16:23391989 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.311+212T>A |
single nucleotide variant |
not provided [RCV001549378] |
Chr16:23349122 [GRCh38] Chr16:23360443 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.881-176G>A |
single nucleotide variant |
not provided [RCV001655944] |
Chr16:23371123 [GRCh38] Chr16:23382444 [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_000336.3(SCNN1B):c.1466+113G>C |
single nucleotide variant |
not provided [RCV001656735] |
Chr16:23378880 [GRCh38] Chr16:23390201 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.586-198G>A |
single nucleotide variant |
not provided [RCV001655211] |
Chr16:23355101 [GRCh38] Chr16:23355101..23355102 [GRCh38] Chr16:23366422 [GRCh37] Chr16:23366422..23366423 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1044+126G>C |
single nucleotide variant |
not provided [RCV001654471] |
Chr16:23371588 [GRCh38] Chr16:23382909 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1404+196_1404+202del |
deletion |
not provided [RCV001674739] |
Chr16:23377582..23377588 [GRCh38] Chr16:23388903..23388909 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.586-92C>G |
single nucleotide variant |
not provided [RCV001685271] |
Chr16:23355207 [GRCh38] Chr16:23366528 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1152+10T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002502008]|Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003229625]|not provided [RCV002539659]|not specified [RCV001663808] |
Chr16:23371893 [GRCh38] Chr16:23383214 [GRCh37] Chr16:16p12.2 |
benign|likely benign |
NM_000336.3(SCNN1B):c.880+199T>C |
single nucleotide variant |
not provided [RCV001613515] |
Chr16:23368158 [GRCh38] Chr16:23379479 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.777-311G>A |
single nucleotide variant |
not provided [RCV001693672] |
Chr16:23367545 [GRCh38] Chr16:23378866 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1404+207_1404+241del |
deletion |
not provided [RCV001656730] |
Chr16:23377592..23377626 [GRCh38] Chr16:23388913..23388947 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1405-211A>G |
single nucleotide variant |
not provided [RCV001637922] |
Chr16:23378495 [GRCh38] Chr16:23389816 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1467-215C>T |
single nucleotide variant |
not provided [RCV001658772] |
Chr16:23379879 [GRCh38] Chr16:23391200 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120528]|Liddle syndrome 1 [RCV001120529]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120530] |
Chr16:23355461 [GRCh38] Chr16:23366782 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1152+332G>A |
single nucleotide variant |
not provided [RCV001651854] |
Chr16:23372215 [GRCh38] Chr16:23383536 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.777-42C>T |
single nucleotide variant |
not provided [RCV001590450] |
Chr16:23367814 [GRCh38] Chr16:23379135 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.880+208C>T |
single nucleotide variant |
not provided [RCV001709761] |
Chr16:23368167 [GRCh38] Chr16:23379488 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.586-157G>T |
single nucleotide variant |
not provided [RCV001612537] |
Chr16:23355142 [GRCh38] Chr16:23366463 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1271-231G>A |
single nucleotide variant |
not provided [RCV001696104] |
Chr16:23376934 [GRCh38] Chr16:23388255 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.776+102C>T |
single nucleotide variant |
not provided [RCV001691858] |
Chr16:23355591 [GRCh38] Chr16:23366912 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120526]|Liddle syndrome 1 [RCV001120527]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001120525]|not provided [RCV003727871] |
Chr16:23355330 [GRCh38] Chr16:23366651 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001118954]|Liddle syndrome 1 [RCV001118953]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001118955]|not provided [RCV002558176] |
Chr16:23380635 [GRCh38] Chr16:23391956 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001115890]|Liddle syndrome 1 [RCV001115891]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115889] |
Chr16:23380572 [GRCh38] Chr16:23391893 [GRCh37] Chr16:16p12.2 |
benign|uncertain significance |
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001120722]|Liddle syndrome 1 [RCV001120723]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115794] |
Chr16:23377230 [GRCh38] Chr16:23388551 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001118952]|Liddle syndrome 1 [RCV001117346]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001117347] |
Chr16:23380623 [GRCh38] Chr16:23391944 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.*446C>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001121024]|Liddle syndrome 1 [RCV001121022]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001121023] |
Chr16:23381247 [GRCh38] Chr16:23392568 [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 |
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_000336.3(SCNN1B):c.1789dup (p.Arg597fs) |
duplication |
not provided [RCV001288159] |
Chr16:23380661..23380662 [GRCh38] Chr16:23391982..23391983 [GRCh37] Chr16:16p12.2 |
pathogenic|likely pathogenic |
NM_000336.3(SCNN1B):c.1854dup (p.Asn619fs) |
duplication |
not provided [RCV001289231] |
Chr16:23380726..23380727 [GRCh38] Chr16:23392047..23392048 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.880+10G>A |
single nucleotide variant |
not provided [RCV001289236] |
Chr16:23367969 [GRCh38] Chr16:23379290 [GRCh37] Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004035568]|not provided [RCV001289234] |
Chr16:23380766 [GRCh38] Chr16:23392087 [GRCh37] Chr16:16p12.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000336.3(SCNN1B):c.1543-112A>T |
single nucleotide variant |
not provided [RCV001643238] |
Chr16:23380309 [GRCh38] Chr16:23391630 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.187G>A (p.Val63Ile) |
single nucleotide variant |
not provided [RCV001289232] |
Chr16:23348786 [GRCh38] Chr16:23360107 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly) |
single nucleotide variant |
not provided [RCV001354153] |
Chr16:23377207 [GRCh38] Chr16:23388528 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.2:c.-7632_-9+6393del |
deletion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001420633] |
|
uncertain significance |
NM_000336.3(SCNN1B):c.880+166C>G |
single nucleotide variant |
not provided [RCV001716537] |
Chr16:23368125 [GRCh38] Chr16:23379446 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.-8-73T>C |
single nucleotide variant |
not provided [RCV001592702] |
Chr16:23348519 [GRCh38] Chr16:23359840 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1270+121C>T |
single nucleotide variant |
not provided [RCV001643512] |
Chr16:23375976 [GRCh38] Chr16:23387297 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1152+43G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001807496]|Liddle syndrome 1 [RCV001807494]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807495]|not provided [RCV001671821] |
Chr16:23371926 [GRCh38] Chr16:23383247 [GRCh37] Chr16:16p12.2 |
benign |
NC_000016.10:g.23301864G>A |
single nucleotide variant |
not provided [RCV001617328] |
Chr16:23301864 [GRCh38] Chr16:23313185 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1405-158T>A |
single nucleotide variant |
not provided [RCV001672019] |
Chr16:23378548 [GRCh38] Chr16:23389869 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.312-41A>C |
single nucleotide variant |
not provided [RCV001709787] |
Chr16:23352760 [GRCh38] Chr16:23364081 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.-9+295T>C |
single nucleotide variant |
not provided [RCV001674500] |
Chr16:23302732 [GRCh38] Chr16:23314053 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.219C>A (p.Thr73=) |
single nucleotide variant |
not provided [RCV003109010] |
Chr16:23348818 [GRCh38] Chr16:23360139 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) |
duplication |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001849569]|Bronchiectasis with or without elevated sweat chloride 1 [RCV002478010] |
Chr16:23355360..23355361 [GRCh38] Chr16:23366681..23366682 [GRCh37] Chr16:16p12.2 |
pathogenic|likely pathogenic |
NM_000336.3(SCNN1B):c.586-89C>T |
single nucleotide variant |
not provided [RCV001786640] |
Chr16:23355210 [GRCh38] Chr16:23366531 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.312-207G>A |
single nucleotide variant |
not provided [RCV001786641] |
Chr16:23352594 [GRCh38] Chr16:23363915 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002496079]|not provided [RCV001752120] |
Chr16:23375813 [GRCh38] Chr16:23387134 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.114dup (p.Lys39fs) |
duplication |
not provided [RCV001784948] |
Chr16:23348709..23348710 [GRCh38] Chr16:23360030..23360031 [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_000336.3(SCNN1B):c.-9+489A>T |
single nucleotide variant |
not provided [RCV001786636] |
Chr16:23302926 [GRCh38] Chr16:23314247 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002506758]|not provided [RCV001756664] |
Chr16:23380772 [GRCh38] Chr16:23392093 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1152+312T>C |
single nucleotide variant |
not provided [RCV001797274] |
Chr16:23372195 [GRCh38] Chr16:23383516 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002506844]|Inborn genetic diseases [RCV002542472]|not provided [RCV001815789] |
Chr16:23377216 [GRCh38] Chr16:23388537 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001837048] |
Chr16:23353028 [GRCh38] Chr16:23364349 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV002506862]|Inborn genetic diseases [RCV002545236]|not specified [RCV001844485] |
Chr16:23367882 [GRCh38] Chr16:23379203 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.121A>G (p.Ile41Val) |
single nucleotide variant |
not provided [RCV001936001] |
Chr16:23348720 [GRCh38] Chr16:23360041 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu) |
single nucleotide variant |
not provided [RCV002247207] |
Chr16:23380716 [GRCh38] Chr16:23392037 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn) |
single nucleotide variant |
not provided [RCV002223733] |
Chr16:23348690 [GRCh38] Chr16:23360011 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.-9+564G>T |
single nucleotide variant |
not provided [RCV002226048] |
Chr16:23303001 [GRCh38] Chr16:23314322 [GRCh37] Chr16:16p12.2 |
benign |
NC_000016.10:g.23302174G>A |
single nucleotide variant |
not provided [RCV002226047] |
Chr16:23302174 [GRCh38] Chr16:23313495 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1340C>G (p.Ser447Cys) |
single nucleotide variant |
not provided [RCV003110038] |
Chr16:23377234 [GRCh38] Chr16:23388555 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1752C>T (p.Ala584=) |
single nucleotide variant |
not specified [RCV004782067] |
Chr16:23380630 [GRCh38] Chr16:23391951 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1693C>T (p.Arg565Trp) |
single nucleotide variant |
not provided [RCV003118086] |
Chr16:23380571 [GRCh38] Chr16:23391892 [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_000336.3(SCNN1B):c.1329G>A (p.Met443Ile) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV003229789] |
Chr16:23377223 [GRCh38] Chr16:23388544 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe) |
single nucleotide variant |
Opsoclonus-myoclonus syndrome [RCV002286329] |
Chr16:23380487 [GRCh38] Chr16:23391808 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.1542+45A>G |
single nucleotide variant |
not provided [RCV002286269] |
Chr16:23380214 [GRCh38] Chr16:23391535 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu) |
single nucleotide variant |
Liddle syndrome 1 [RCV002281807] |
Chr16:23380728 [GRCh38] Chr16:23392049 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys) |
single nucleotide variant |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young [RCV002287700] |
Chr16:23380140 [GRCh38] Chr16:23391461 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.754G>A (p.Gly252Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003260616] |
Chr16:23355467 [GRCh38] Chr16:23366788 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.367C>A (p.Leu123Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003304931] |
Chr16:23352856 [GRCh38] Chr16:23364177 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.699G>C (p.Gln233His) |
single nucleotide variant |
Inborn genetic diseases [RCV003306933]|not provided [RCV003549056] |
Chr16:23355412 [GRCh38] Chr16:23366733 [GRCh37] Chr16:16p12.2 |
likely benign|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_000336.3(SCNN1B):c.372G>T (p.Glu124Asp) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV003150888] |
Chr16:23352861 [GRCh38] Chr16:23364182 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.-8-15491_-8-15437del |
deletion |
Schizophrenia [RCV002463523] |
Chr16:23333100..23333154 [GRCh38] Chr16:23344421..23344475 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.724G>A (p.Gly242Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002728440] |
Chr16:23355437 [GRCh38] Chr16:23366758 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.409A>C (p.Thr137Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002858911] |
Chr16:23352898 [GRCh38] Chr16:23364219 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1153-14C>A |
single nucleotide variant |
not provided [RCV002681261] |
Chr16:23375724 [GRCh38] Chr16:23387045 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.7G>A (p.Val3Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002969654]|not provided [RCV003546934] |
Chr16:23348606 [GRCh38] Chr16:23359927 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.607T>C (p.Cys203Arg) |
single nucleotide variant |
not provided [RCV002816603] |
Chr16:23355320 [GRCh38] Chr16:23366641 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1850C>G (p.Pro617Arg) |
single nucleotide variant |
not provided [RCV003015618] |
Chr16:23380728 [GRCh38] Chr16:23392049 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1466+13C>G |
single nucleotide variant |
not provided [RCV002776030] |
Chr16:23378780 [GRCh38] Chr16:23390101 [GRCh37] Chr16:16p12.2 |
benign |
NM_000336.3(SCNN1B):c.1854del (p.Asn619fs) |
deletion |
not provided [RCV003039424] |
Chr16:23380727 [GRCh38] Chr16:23392048 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1873C>G (p.Leu625Val) |
single nucleotide variant |
not provided [RCV002639830] |
Chr16:23380751 [GRCh38] Chr16:23392072 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.979C>G (p.Pro327Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002798278] |
Chr16:23371397 [GRCh38] Chr16:23382718 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.73C>G (p.Leu25Val) |
single nucleotide variant |
not provided [RCV002760706] |
Chr16:23348672 [GRCh38] Chr16:23359993 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1714G>A (p.Ala572Thr) |
single nucleotide variant |
not provided [RCV002636580] |
Chr16:23380592 [GRCh38] Chr16:23391913 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1402G>A (p.Glu468Lys) |
single nucleotide variant |
not provided [RCV003078490] |
Chr16:23377384 [GRCh38] Chr16:23388705 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.518G>T (p.Gly173Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002987339] |
Chr16:23353007 [GRCh38] Chr16:23364328 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1347-12C>A |
single nucleotide variant |
not provided [RCV002575816] |
Chr16:23377317 [GRCh38] Chr16:23388638 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1152+17C>T |
single nucleotide variant |
not provided [RCV002790349] |
Chr16:23371900 [GRCh38] Chr16:23383221 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002915612]|not provided [RCV003565593] |
Chr16:23353051 [GRCh38] Chr16:23364372 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1039C>T (p.Leu347Phe) |
single nucleotide variant |
not provided [RCV002666874] |
Chr16:23371457 [GRCh38] Chr16:23382778 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1673T>G (p.Leu558Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003065874]|not provided [RCV003058119] |
Chr16:23380551 [GRCh38] Chr16:23391872 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1058G>T (p.Arg353Leu) |
single nucleotide variant |
not provided [RCV002710341] |
Chr16:23371789 [GRCh38] Chr16:23383110 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1751C>T (p.Ala584Val) |
single nucleotide variant |
not provided [RCV002508654] |
Chr16:23380629 [GRCh38] Chr16:23391950 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002987190] |
Chr16:23380581 [GRCh38] Chr16:23391902 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.964G>A (p.Glu322Lys) |
single nucleotide variant |
not provided [RCV003084906] |
Chr16:23371382 [GRCh38] Chr16:23382703 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1420G>A (p.Val474Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002698553] |
Chr16:23378721 [GRCh38] Chr16:23390042 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1087G>A (p.Val363Met) |
single nucleotide variant |
not provided [RCV003085258] |
Chr16:23371818 [GRCh38] Chr16:23383139 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.878T>A (p.Phe293Tyr) |
single nucleotide variant |
not provided [RCV002626927] |
Chr16:23367957 [GRCh38] Chr16:23379278 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.511C>T (p.His171Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002915507]|not provided [RCV003420464] |
Chr16:23353000 [GRCh38] Chr16:23364321 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1848G>A (p.Pro616=) |
single nucleotide variant |
not provided [RCV002595385] |
Chr16:23380726 [GRCh38] Chr16:23392047 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1463G>C (p.Ser488Thr) |
single nucleotide variant |
not provided [RCV002721103] |
Chr16:23378764 [GRCh38] Chr16:23390085 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.731A>G (p.Gln244Arg) |
single nucleotide variant |
not provided [RCV002580943] |
Chr16:23355444 [GRCh38] Chr16:23366765 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1300G>A (p.Val434Met) |
single nucleotide variant |
not provided [RCV002966206]|not specified [RCV003403980] |
Chr16:23377194 [GRCh38] Chr16:23388515 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.776G>A (p.Arg259Gln) |
single nucleotide variant |
not provided [RCV002900511] |
Chr16:23355489 [GRCh38] Chr16:23366810 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1279T>C (p.Tyr427His) |
single nucleotide variant |
not provided [RCV002599841] |
Chr16:23377173 [GRCh38] Chr16:23388494 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1713del (p.Ser570_Tyr571insTer) |
deletion |
not provided [RCV002962600] |
Chr16:23380591 [GRCh38] Chr16:23391912 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1152+18G>A |
single nucleotide variant |
not provided [RCV002627613] |
Chr16:23371901 [GRCh38] Chr16:23383222 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1852C>G (p.Pro618Ala) |
single nucleotide variant |
not provided [RCV002806674] |
Chr16:23380730 [GRCh38] Chr16:23392051 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002769531]|not provided [RCV003561173] |
Chr16:23377204 [GRCh38] Chr16:23388525 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1190G>A (p.Arg397His) |
single nucleotide variant |
Inborn genetic diseases [RCV002939296]|not provided [RCV003689031] |
Chr16:23375775 [GRCh38] Chr16:23387096 [GRCh37] Chr16:16p12.2 |
likely benign|uncertain significance |
NM_000336.3(SCNN1B):c.1900G>A (p.Asp634Asn) |
single nucleotide variant |
not provided [RCV002654145] |
Chr16:23380778 [GRCh38] Chr16:23392099 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.865C>T (p.Pro289Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002652325] |
Chr16:23367944 [GRCh38] Chr16:23379265 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1648A>T (p.Ile550Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002724439] |
Chr16:23380526 [GRCh38] Chr16:23391847 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1658T>C (p.Ile553Thr) |
single nucleotide variant |
not provided [RCV002587648] |
Chr16:23380536 [GRCh38] Chr16:23391857 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1727C>T (p.Pro576Leu) |
single nucleotide variant |
not provided [RCV002608460] |
Chr16:23380605 [GRCh38] Chr16:23391926 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1859A>G (p.Tyr620Cys) |
single nucleotide variant |
not specified [RCV003155613] |
Chr16:23380737 [GRCh38] Chr16:23392058 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1474A>G (p.Ile492Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003207912] |
Chr16:23380101 [GRCh38] Chr16:23391422 [GRCh37] Chr16:16p12.2 |
likely benign |
SCNN1B, IVS12, G-A, +1 |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003226586] |
|
pathogenic |
NM_000336.3(SCNN1B):c.1769T>C (p.Phe590Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003205207] |
Chr16:23380647 [GRCh38] Chr16:23391968 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1495T>G (p.Phe499Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003200391]|not provided [RCV003708743] |
Chr16:23380122 [GRCh38] Chr16:23391443 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1108G>A (p.Val370Ile) |
single nucleotide variant |
not provided [RCV003136526] |
Chr16:23371839 [GRCh38] Chr16:23383160 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.471C>A (p.Asn157Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003205699] |
Chr16:23352960 [GRCh38] Chr16:23364281 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1130A>T (p.Tyr377Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003196183] |
Chr16:23371861 [GRCh38] Chr16:23383182 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003220813] |
Chr16:23353043 [GRCh38] Chr16:23364364 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV003320424]|Inborn genetic diseases [RCV003341562]|not provided [RCV003575076] |
Chr16:23377222 [GRCh38] Chr16:23388543 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003324626] |
Chr16:23348683 [GRCh38] Chr16:23360004 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003367755]|not provided [RCV003456584] |
Chr16:23377229 [GRCh38] Chr16:23388550 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1346+1G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003447447] |
Chr16:23377241 [GRCh38] Chr16:23388562 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys) |
single nucleotide variant |
not provided [RCV003874389] |
Chr16:23380697 [GRCh38] Chr16:23392018 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003447446] |
Chr16:23348686 [GRCh38] Chr16:23360007 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1271-1G>C |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV003447445] |
Chr16:23377164 [GRCh38] Chr16:23388485 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His) |
single nucleotide variant |
not provided [RCV003482886] |
Chr16:23375748 [GRCh38] Chr16:23387069 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1849C>G (p.Pro617Ala) |
single nucleotide variant |
not provided [RCV004778483] |
Chr16:23380727 [GRCh38] Chr16:23392048 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1335G>A (p.Lys445=) |
single nucleotide variant |
not provided [RCV003417681] |
Chr16:23377229 [GRCh38] Chr16:23388550 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.776+5G>A |
single nucleotide variant |
SCNN1B-related disorder [RCV003412042] |
Chr16:23355494 [GRCh38] Chr16:23366815 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1174C>T (p.Gln392Ter) |
single nucleotide variant |
SCNN1B-related disorder [RCV003397812] |
Chr16:23375759 [GRCh38] Chr16:23387080 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg) |
single nucleotide variant |
not provided [RCV003426634] |
Chr16:23371361 [GRCh38] Chr16:23382682 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1270+17G>A |
single nucleotide variant |
not provided [RCV003778359]|not specified [RCV003405066] |
Chr16:23375872 [GRCh38] Chr16:23387193 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.919G>A (p.Val307Ile) |
single nucleotide variant |
not provided [RCV003739754] |
Chr16:23371337 [GRCh38] Chr16:23382658 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.738C>T (p.Ile246=) |
single nucleotide variant |
not provided [RCV003546437] |
Chr16:23355451 [GRCh38] Chr16:23366772 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1881G>A (p.Pro627=) |
single nucleotide variant |
not provided [RCV003831403] |
Chr16:23380759 [GRCh38] Chr16:23392080 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1374C>T (p.Ser458=) |
single nucleotide variant |
not provided [RCV003690244] |
Chr16:23377356 [GRCh38] Chr16:23388677 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1466+18C>T |
single nucleotide variant |
not provided [RCV003882025] |
Chr16:23378785 [GRCh38] Chr16:23390106 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1270+6C>T |
single nucleotide variant |
not provided [RCV003491450] |
Chr16:23375861 [GRCh38] Chr16:23387182 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1636G>A (p.Asp546Asn) |
single nucleotide variant |
not provided [RCV003824693] |
Chr16:23380514 [GRCh38] Chr16:23391835 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.270G>A (p.Met90Ile) |
single nucleotide variant |
not provided [RCV003660458] |
Chr16:23348869 [GRCh38] Chr16:23360190 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=) |
single nucleotide variant |
SCNN1B-related disorder [RCV003966540]|not provided [RCV003572588] |
Chr16:23371459 [GRCh38] Chr16:23382780 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.880+18G>A |
single nucleotide variant |
not provided [RCV003882596] |
Chr16:23367977 [GRCh38] Chr16:23379298 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met) |
single nucleotide variant |
not provided [RCV003549775] |
Chr16:23380520 [GRCh38] Chr16:23391841 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu) |
single nucleotide variant |
not provided [RCV003548091] |
Chr16:23367936 [GRCh38] Chr16:23379257 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys) |
single nucleotide variant |
not provided [RCV003548248] |
Chr16:23380748 [GRCh38] Chr16:23392069 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.363T>G (p.Ala121=) |
single nucleotide variant |
not provided [RCV003549296] |
Chr16:23352852 [GRCh38] Chr16:23364173 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.54C>T (p.Pro18=) |
single nucleotide variant |
not provided [RCV003548475] |
Chr16:23348653 [GRCh38] Chr16:23359974 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1228C>G (p.Arg410Gly) |
single nucleotide variant |
not provided [RCV003815157] |
Chr16:23375813 [GRCh38] Chr16:23387134 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.846G>A (p.Lys282=) |
single nucleotide variant |
not provided [RCV003814387] |
Chr16:23367925 [GRCh38] Chr16:23379246 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1542+17C>T |
single nucleotide variant |
not provided [RCV003814422] |
Chr16:23380186 [GRCh38] Chr16:23391507 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1253G>A (p.Arg418Gln) |
single nucleotide variant |
not provided [RCV003559102] |
Chr16:23375838 [GRCh38] Chr16:23387159 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.311+13G>A |
single nucleotide variant |
not provided [RCV003838671] |
Chr16:23348923 [GRCh38] Chr16:23360244 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.786G>A (p.Thr262=) |
single nucleotide variant |
not provided [RCV003736046] |
Chr16:23367865 [GRCh38] Chr16:23379186 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala) |
single nucleotide variant |
not provided [RCV003844842] |
Chr16:23380709 [GRCh38] Chr16:23392030 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp) |
single nucleotide variant |
not provided [RCV003863988] |
Chr16:23380565 [GRCh38] Chr16:23391886 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1479C>G (p.Val493=) |
single nucleotide variant |
not provided [RCV003556766] |
Chr16:23380106 [GRCh38] Chr16:23391427 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1701C>T (p.Ala567=) |
single nucleotide variant |
not provided [RCV003719085] |
Chr16:23380579 [GRCh38] Chr16:23391900 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.537A>C (p.Ala179=) |
single nucleotide variant |
not provided [RCV003870277] |
Chr16:23353026 [GRCh38] Chr16:23364347 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1050G>A (p.Lys350=) |
single nucleotide variant |
not provided [RCV003870167] |
Chr16:23371781 [GRCh38] Chr16:23383102 [GRCh37] Chr16:16p12.2 |
likely benign |
GRCh37/hg19 16p12.2(chr16:23261791-23326708)x3 |
copy number gain |
not specified [RCV003987169] |
Chr16:23261791..23326708 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1724C>T (p.Pro575Leu) |
single nucleotide variant |
not provided [RCV003551272] |
Chr16:23380602 [GRCh38] Chr16:23391923 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1014G>A (p.Ser338=) |
single nucleotide variant |
not provided [RCV003556850] |
Chr16:23371432 [GRCh38] Chr16:23382753 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1535C>T (p.Ala512Val) |
single nucleotide variant |
not provided [RCV003886737] |
Chr16:23380162 [GRCh38] Chr16:23391483 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1595G>T (p.Gly532Val) |
single nucleotide variant |
Liddle syndrome 1 [RCV003991798] |
Chr16:23380473 [GRCh38] Chr16:23391794 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.720C>A (p.Tyr240Ter) |
single nucleotide variant |
SCNN1B-related disorder [RCV003982815] |
Chr16:23355433 [GRCh38] Chr16:23366754 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.1044+8C>T |
single nucleotide variant |
SCNN1B-related disorder [RCV003929555] |
Chr16:23371470 [GRCh38] Chr16:23382791 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1725G>A (p.Pro575=) |
single nucleotide variant |
SCNN1B-related disorder [RCV003949838] |
Chr16:23380603 [GRCh38] Chr16:23391924 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1275T>C (p.His425=) |
single nucleotide variant |
SCNN1B-related disorder [RCV003951825] |
Chr16:23377169 [GRCh38] Chr16:23388490 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.590G>C (p.Ser197Thr) |
single nucleotide variant |
Liddle syndrome 1 [RCV003990889] |
Chr16:23355303 [GRCh38] Chr16:23366624 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1825G>T (p.Ala609Ser) |
single nucleotide variant |
SCNN1B-related disorder [RCV003896722] |
Chr16:23380703 [GRCh38] Chr16:23392024 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile) |
single nucleotide variant |
not provided [RCV003885916] |
Chr16:23348752 [GRCh38] Chr16:23360073 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.804C>G (p.His268Gln) |
single nucleotide variant |
not specified [RCV004527096] |
Chr16:23367883 [GRCh38] Chr16:23379204 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.836T>C (p.Met279Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004454971] |
Chr16:23367915 [GRCh38] Chr16:23379236 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.922C>G (p.Pro308Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004454972] |
Chr16:23371340 [GRCh38] Chr16:23382661 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1136C>T (p.Thr379Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004454968] |
Chr16:23371867 [GRCh38] Chr16:23383188 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1723C>T (p.Pro575Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004454969] |
Chr16:23380601 [GRCh38] Chr16:23391922 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.299C>A (p.Ala100Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004454970] |
Chr16:23348898 [GRCh38] Chr16:23360219 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004658818] |
Chr16:23352975 [GRCh38] Chr16:23364296 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.1036G>A (p.Val346Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004658820] |
Chr16:23371454 [GRCh38] Chr16:23382775 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.880+16T>C |
single nucleotide variant |
not specified [RCV004702767] |
Chr16:23367975 [GRCh38] Chr16:23379296 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_000336.3(SCNN1B):c.1404+1G>T |
single nucleotide variant |
Pseudohypoaldosteronism, type IB2, autosomal recessive [RCV004698734] |
Chr16:23377387 [GRCh38] Chr16:23388708 [GRCh37] Chr16:16p12.2 |
pathogenic |
NM_000336.3(SCNN1B):c.624C>A (p.Phe208Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004658821] |
Chr16:23355337 [GRCh38] Chr16:23366658 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.606G>T (p.Gln202His) |
single nucleotide variant |
Inborn genetic diseases [RCV004658819] |
Chr16:23355319 [GRCh38] Chr16:23366640 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.439C>A (p.His147Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004658822] |
Chr16:23352928 [GRCh38] Chr16:23364249 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_000336.3(SCNN1B):c.567del (p.Gly188_Cys189insTer) |
deletion |
SCNN1B-related disorder [RCV004732387] |
Chr16:23353056 [GRCh38] Chr16:23364377 [GRCh37] Chr16:16p12.2 |
likely pathogenic |
NM_000336.3(SCNN1B):c.1032C>T (p.Ile344=) |
single nucleotide variant |
not provided [RCV004794176] |
Chr16:23371450 [GRCh38] Chr16:23382771 [GRCh37] Chr16:16p12.2 |
uncertain significance |