NM_001038.6(SCNN1A):c.875+1G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003227777]|not provided [RCV000519225] |
Chr12:6362050 [GRCh38] Chr12:6471216 [GRCh37] Chr12:12p13.31 |
pathogenic|likely pathogenic |
NM_001038.6(SCNN1A):c.203_204del (p.Ile68fs) |
deletion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009845] |
Chr12:6374580..6374581 [GRCh38] Chr12:6483746..6483747 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs) |
deletion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009847]|not provided [RCV001579849] |
Chr12:6349212 [GRCh38] Chr12:6458378 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.729del (p.Val245fs) |
deletion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009848] |
Chr12:6362197 [GRCh38] Chr12:6471363 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs) |
duplication |
not provided [RCV000519255] |
Chr12:6347878..6347879 [GRCh38] Chr12:6457044..6457045 [GRCh37] Chr12:12p13.31 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV002298438]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009846]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002482850] |
Chr12:6348981 [GRCh38] Chr12:6458147 [GRCh37] Chr12:12p13.31 |
pathogenic|likely pathogenic |
NM_001038.6(SCNN1A):c.1685C>T (p.Ser562Leu) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000009849]|not provided [RCV003162223] |
Chr12:6348198 [GRCh38] Chr12:6457364 [GRCh37] Chr12:12p13.31 |
pathogenic|likely pathogenic |
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000009850]|not provided [RCV001762041] |
Chr12:6374444 [GRCh38] Chr12:6483610 [GRCh37] Chr12:12p13.31 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000009851]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000264087]|not provided [RCV001528586]|not specified [RCV000173721] |
Chr12:6349184 [GRCh38] Chr12:6458350 [GRCh37] Chr12:12p13.31 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000009852] |
Chr12:6374543 [GRCh38] Chr12:6483709 [GRCh37] Chr12:12p13.31 |
pathogenic |
GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3 |
copy number gain |
See cases [RCV000051955] |
Chr12:6098040..6355855 [GRCh38] Chr12:6207206..6465021 [GRCh37] Chr12:6077467..6335282 [NCBI36] Chr12:12p13.31 |
uncertain significance |
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 |
copy number loss |
See cases [RCV000052776] |
Chr12:121055..28415184 [GRCh38] Chr12:282465..28568117 [GRCh37] Chr12:100482..28459384 [NCBI36] Chr12:12p13.33-11.22 |
pathogenic |
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 |
copy number gain |
See cases [RCV000053662] |
Chr12:80412..25470329 [GRCh38] Chr12:282465..25623263 [GRCh37] Chr12:59839..25514530 [NCBI36] Chr12:12p13.33-12.1 |
pathogenic |
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 |
copy number gain |
See cases [RCV000053663] |
Chr12:121055..7272606 [GRCh38] Chr12:282465..7425202 [GRCh37] Chr12:100482..7316469 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] |
Chr12:121255..8361746 [GRCh38] Chr12:282465..8514342 [GRCh37] Chr12:100682..8405609 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 |
copy number gain |
See cases [RCV000053666] |
Chr12:212976..33926913 [GRCh38] Chr12:322142..34079848 [GRCh37] Chr12:192403..33971115 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 |
copy number gain |
See cases [RCV000053660] |
Chr12:77187..34380176 [GRCh38] Chr12:282465..34533111 [GRCh37] Chr12:56614..34424378 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.5(SCNN1A):c.1143+40G>A |
single nucleotide variant |
Lung cancer [RCV000111200] |
Chr12:6355232 [GRCh38] Chr12:6464398 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000339865]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000378232]|not provided [RCV001636709]|not specified [RCV000174501] |
Chr12:6348030 [GRCh38] Chr12:6457196 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000297832]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000390365]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002492771]|not provided [RCV001725134]|not specified [RCV000177107] |
Chr12:6363587 [GRCh38] Chr12:6472753 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000303655]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000360696]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002503680]|not provided [RCV001723752]|not specified [RCV000177108] |
Chr12:6363586 [GRCh38] Chr12:6363586..6363587 [GRCh38] Chr12:6472752 [GRCh37] Chr12:6472752..6472753 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.666G>A (p.Trp222Ter) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001292946] |
Chr12:6363461 [GRCh38] Chr12:6472627 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1129A>G (p.Ile377Val) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149037] |
Chr12:6355286 [GRCh38] Chr12:6464452 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 |
copy number gain |
See cases [RCV000135350] |
Chr12:45740..6945196 [GRCh38] Chr12:147099..7054359 [GRCh37] Chr12:17360..6924620 [NCBI36] Chr12:12p13.33-13.31 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 |
copy number gain |
See cases [RCV000136611] |
Chr12:121255..34603274 [GRCh38] Chr12:282465..34756209 [GRCh37] Chr12:100682..34647476 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 |
copy number gain |
See cases [RCV000137694] |
Chr12:2871741..14987348 [GRCh38] Chr12:2980907..15140282 [GRCh37] Chr12:2851168..15031549 [NCBI36] Chr12:12p13.33-12.3 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 |
copy number gain |
See cases [RCV000139052] |
Chr12:121271..34603261 [GRCh38] Chr12:282465..34756196 [GRCh37] Chr12:100698..34647463 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 |
copy number gain |
See cases [RCV000139787] |
Chr12:54427..34608071 [GRCh38] Chr12:282465..34761006 [GRCh37] Chr12:33854..34652273 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 |
copy number gain |
See cases [RCV000141905] |
Chr12:1258274..20657577 [GRCh38] Chr12:1367440..20810511 [GRCh37] Chr12:1237701..20701778 [NCBI36] Chr12:12p13.33-12.2 |
pathogenic |
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 |
copy number gain |
See cases [RCV000142149] |
Chr12:64620..34682902 [GRCh38] Chr12:173786..34835837 [GRCh37] Chr12:44047..34727104 [NCBI36] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.416+3C>T |
single nucleotide variant |
not provided [RCV000890018]|not specified [RCV000151813] |
Chr12:6374365 [GRCh38] Chr12:6483531 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000325126]|Liddle syndrome 3 [RCV001807094]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000295920]|not provided [RCV001668303]|not specified [RCV000151811] |
Chr12:6347896 [GRCh38] Chr12:6457062 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000271641]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000310345]|not provided [RCV001651019]|not specified [RCV000151812] |
Chr12:6355415 [GRCh38] Chr12:6464581 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.216C>T (p.Ile72=) |
single nucleotide variant |
not provided [RCV000175652] |
Chr12:6374568 [GRCh38] Chr12:6483734 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 |
copy number gain |
See cases [RCV000240164] |
Chr12:148034..34178799 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002478772]|not specified [RCV000223571] |
Chr12:6355418 [GRCh38] Chr12:6464584 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1360+327C>T |
single nucleotide variant |
not provided [RCV001571197] |
Chr12:6354111 [GRCh38] Chr12:6463277 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000280531]|Inborn genetic diseases [RCV002518203]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000337981]|not provided [RCV002518202]|not specified [RCV000215836] |
Chr12:6354776 [GRCh38] Chr12:6463942 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.-28T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000389824]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000288527]|not provided [RCV003156233]|not specified [RCV000220816] |
Chr12:6374811 [GRCh38] Chr12:6483977 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) |
indel |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000853223]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002500693]|not provided [RCV002515612]|not specified [RCV000216641] |
Chr12:6363586..6363587 [GRCh38] Chr12:6472752..6472753 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
GRCh37/hg19 12p13.31(chr12:6442218-6456388)x3 |
copy number gain |
See cases [RCV000239937] |
Chr12:6442218..6456388 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 |
copy number gain |
See cases [RCV000240487] |
Chr12:89061..34178799 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.-55+5G>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000286353]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000390721]|SCNN1A-related disorder [RCV004544541]|not provided [RCV001539610]|not specified [RCV004596159] |
Chr12:6375500 [GRCh38] Chr12:6484666 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.*920C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000324047]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000359817] |
Chr12:6346953 [GRCh38] Chr12:6456119 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000286272]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000378570]|not provided [RCV001200576] |
Chr12:6354499 [GRCh38] Chr12:6463665 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.5(SCNN1A):c.-186C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001823904]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000325265] |
Chr12:6375636 [GRCh38] Chr12:6484802 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000343386]|Inborn genetic diseases [RCV003243065]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000286142] |
Chr12:6348117 [GRCh38] Chr12:6457283 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*850C>T |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000375033] |
Chr12:6347023 [GRCh38] Chr12:6456189 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000385070]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000328262]|not provided [RCV000949782]|not specified [RCV000728158] |
Chr12:6349177 [GRCh38] Chr12:6458343 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000270746]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000363055]|not provided [RCV000898186]|not specified [RCV000825085] |
Chr12:6349176 [GRCh38] Chr12:6458342 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*70T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000273556]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000356566]|not provided [RCV001550086] |
Chr12:6347803 [GRCh38] Chr12:6456969 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000382052]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000289961]|not provided [RCV000897396] |
Chr12:6347948 [GRCh38] Chr12:6457114 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.684+9C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000394173]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000290072]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002504071]|not provided [RCV001555146] |
Chr12:6363434 [GRCh38] Chr12:6472600 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.*4G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000331001]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000387877] |
Chr12:6347869 [GRCh38] Chr12:6457035 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000292539]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000375279]|not provided [RCV000924063] |
Chr12:6362086 [GRCh38] Chr12:6471252 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.-54-14C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000291929]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000339903] |
Chr12:6374851 [GRCh38] Chr12:6484017 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*914A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000315805]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000260601]|not provided [RCV001785558] |
Chr12:6346959 [GRCh38] Chr12:6456125 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000275632]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000333089] |
Chr12:6374710 [GRCh38] Chr12:6483876 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000355088]|Inborn genetic diseases [RCV003343770]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000262243]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002487369] |
Chr12:6374465 [GRCh38] Chr12:6483631 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000337730]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000400458] |
Chr12:6348797 [GRCh38] Chr12:6457963 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1497+6G>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000315468]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000276726]|not provided [RCV000961179] |
Chr12:6349158 [GRCh38] Chr12:6458324 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.5(SCNN1A):c.-156C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001823903]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000369424] |
Chr12:6375606 [GRCh38] Chr12:6484772 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000343569]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000295692] |
Chr12:6362180 [GRCh38] Chr12:6471346 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.*633G>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000385594]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000296020]|not provided [RCV002248518] |
Chr12:6347240 [GRCh38] Chr12:6456406 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.876-13C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000318224]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000260717]|not provided [RCV002520828] |
Chr12:6355893 [GRCh38] Chr12:6465059 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*113C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000318293]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000260787] |
Chr12:6347760 [GRCh38] Chr12:6456926 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000299120]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000397367]|not provided [RCV002522246] |
Chr12:6348197 [GRCh38] Chr12:6457363 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.-93A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000299434]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000356647]|not provided [RCV004707015] |
Chr12:6375543 [GRCh38] Chr12:6484709 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000359208]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000266859]|not provided [RCV000959256]|not specified [RCV000602567] |
Chr12:6355778 [GRCh38] Chr12:6464944 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000367351]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000319686]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002504072]|SCNN1A-related disorder [RCV004537745]|not provided [RCV001683246]|not specified [RCV000825086] |
Chr12:6374685 [GRCh38] Chr12:6483851 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.*736T>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000331182]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000280754] |
Chr12:6347137 [GRCh38] Chr12:6456303 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000394219]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000347241] |
Chr12:6363479 [GRCh38] Chr12:6472645 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000363726]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000306669] |
Chr12:6355367 [GRCh38] Chr12:6464533 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.-48A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000383840]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000326974]|SCNN1A-related disorder [RCV004537746]|not provided [RCV002248519]|not specified [RCV000614443] |
Chr12:6374831 [GRCh38] Chr12:6483997 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000350992]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000395520]|not provided [RCV003727659] |
Chr12:6355342 [GRCh38] Chr12:6464508 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000330908]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000387793] |
Chr12:6362100 [GRCh38] Chr12:6471266 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.1554-6C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000312025]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000369009] |
Chr12:6348808 [GRCh38] Chr12:6457974 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.5(SCNN1A):c.-155G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001823902]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000312293]|not provided [RCV001840484] |
Chr12:6375605 [GRCh38] Chr12:6484771 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.-69C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000397222]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000334329] |
Chr12:6375519 [GRCh38] Chr12:6484685 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.*296C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000359167]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000390258]|not provided [RCV002285308] |
Chr12:6347577 [GRCh38] Chr12:6456743 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.54A>T (p.Pro18=) |
single nucleotide variant |
not provided [RCV000403465] |
Chr12:6374730 [GRCh38] Chr12:6483896 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1629+28A>T |
single nucleotide variant |
not provided [RCV001566608] |
Chr12:6348699 [GRCh38] Chr12:6457865 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.139_140delinsCT (p.Ala47Leu) |
indel |
not provided [RCV000722452] |
Chr12:6374644..6374645 [GRCh38] Chr12:6483810..6483811 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001065.4(TNFRSF1A):c.-74G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001823898]|Familial Periodic Fever [RCV000314258]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000359017]|TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001113235] |
Chr12:6341888 [GRCh38] Chr12:6451054 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*114G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000353323]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000305448] |
Chr12:6347759 [GRCh38] Chr12:6456925 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000334521]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000372776] |
Chr12:6354751 [GRCh38] Chr12:6463917 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*590C>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000397593]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000351058] |
Chr12:6347283 [GRCh38] Chr12:6456449 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*1012TGTT[1] |
microsatellite |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001823901]|Familial Periodic Fever [RCV000358137]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000264167]|not provided [RCV001690028] |
Chr12:6346854..6346857 [GRCh38] Chr12:6456020..6456023 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001065.4(TNFRSF1A):c.-233C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 1 [RCV001823900]|Familial Periodic Fever [RCV000308770]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000303309]|TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001114597] |
Chr12:6342047 [GRCh38] Chr12:6451213 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000324236]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000371894] |
Chr12:6355812 [GRCh38] Chr12:6464978 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*580A>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000347642]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000287978] |
Chr12:6347293 [GRCh38] Chr12:6456459 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000395493]|Inborn genetic diseases [RCV002520827]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000312398]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002504070] |
Chr12:6354815 [GRCh38] Chr12:6463981 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*415C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000302047]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000397583] |
Chr12:6347458 [GRCh38] Chr12:6456624 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001065.4(TNFRSF1A):c.-96C>T |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262970]|Bronchiectasis with or without elevated sweat chloride 1 [RCV001823899]|Familial Periodic Fever [RCV000364144]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000361628]|TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001114596]|not provided [RCV001565456] |
Chr12:6341910 [GRCh38] Chr12:6451076 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) |
deletion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001535836]|not provided [RCV000722629] |
Chr12:6374715 [GRCh38] Chr12:6483881 [GRCh37] Chr12:12p13.31 |
likely pathogenic|uncertain significance |
NM_001038.6(SCNN1A):c.-55+2T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114923]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000779114]|not provided [RCV000722903] |
Chr12:6375503 [GRCh38] Chr12:6484669 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln) |
single nucleotide variant |
Failure to thrive [RCV000735319]|not provided [RCV002536534] |
Chr12:6349339 [GRCh38] Chr12:6458505 [GRCh37] Chr12:12p13.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 |
copy number gain |
See cases [RCV000449191] |
Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 |
copy number gain |
See cases [RCV000449287] |
Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
See cases [RCV000447551] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 |
copy number gain |
See cases [RCV000446050] |
Chr12:173786..20026080 [GRCh37] Chr12:12p13.33-12.2 |
pathogenic |
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 |
copy number gain |
See cases [RCV000446749] |
Chr12:173786..8257049 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) |
copy number gain |
See cases [RCV000446017] |
Chr12:189578..34756150 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_001038.6(SCNN1A):c.-54-7C>T |
single nucleotide variant |
not provided [RCV000497958] |
Chr12:6374844 [GRCh38] Chr12:6484010 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 |
copy number gain |
See cases [RCV000511580] |
Chr12:565369..34835837 [GRCh37] Chr12:12p13.33-11.1 |
likely pathogenic |
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 |
copy number gain |
See cases [RCV000510853] |
Chr12:173786..11677456 [GRCh37] Chr12:12p13.33-13.2 |
pathogenic |
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 |
copy number gain |
See cases [RCV000510961] |
Chr12:173786..28219229 [GRCh37] Chr12:12p13.33-11.22 |
pathogenic |
NM_001038.6(SCNN1A):c.-23C>G |
single nucleotide variant |
not specified [RCV000608481] |
Chr12:6374806 [GRCh38] Chr12:6483972 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.942del (p.Asn315fs) |
deletion |
Idiopathic bronchiectasis [RCV000614949] |
Chr12:6355814 [GRCh38] Chr12:6464980 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000714669]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000714668] |
Chr12:6349210 [GRCh38] Chr12:6458376 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 |
copy number gain |
not provided [RCV000683478] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 |
copy number gain |
not provided [RCV000683479] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 |
copy number gain |
not provided [RCV000683480] |
Chr12:173786..37869107 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) |
single nucleotide variant |
Liddle syndrome 3 [RCV000680280]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001535947]|not provided [RCV003546588] |
Chr12:6349331 [GRCh38] Chr12:6458497 [GRCh37] Chr12:12p13.31 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 |
copy number gain |
not provided [RCV000683477] |
Chr12:191242..8122785 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV000714667]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000714666]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002507252]|not provided [RCV004773123] |
Chr12:6374399 [GRCh38] Chr12:6483565 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1000_1002delinsACC (p.Ala334Thr) |
indel |
not provided [RCV000723268] |
Chr12:6355413..6355415 [GRCh38] Chr12:6464579..6464581 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 |
copy number gain |
not provided [RCV000750245] |
Chr12:191619..31733044 [GRCh37] Chr12:12p13.33-11.21 |
pathogenic |
NC_000012.12:g.6377490T>C |
single nucleotide variant |
not provided [RCV001648181] |
Chr12:6377490 [GRCh38] Chr12:6486656 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.398G>A (p.Cys133Tyr) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003314462] |
Chr12:6374386 [GRCh38] Chr12:6483552 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.702G>A (p.Ser234=) |
single nucleotide variant |
not provided [RCV000900657] |
Chr12:6362224 [GRCh38] Chr12:6471390 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001115038]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115037]|not provided [RCV000959924] |
Chr12:6374658 [GRCh38] Chr12:6483824 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1323C>T (p.Asn441=) |
single nucleotide variant |
not provided [RCV000902111] |
Chr12:6354475 [GRCh38] Chr12:6463641 [GRCh37] Chr12:12p13.31 |
likely benign |
NC_000012.12:g.(1_3750000)_(5250000_9000000)del |
deletion |
Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] |
Chr12:3750000..5250000 [GRCh38] Chr12:12p13.33-13.31 |
pathogenic|not provided |
NC_000012.11:g.(?_6438458)_(7362839_?)dup |
duplication |
Peroxisome biogenesis disorder 2B [RCV001031288] |
Chr12:6438458..7362839 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001109185]|Inborn genetic diseases [RCV002540873]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001109184]|not provided [RCV000914391] |
Chr12:6348983 [GRCh38] Chr12:6458149 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114825]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000779111]|SCNN1A-related disorder [RCV004735799] |
Chr12:6348112 [GRCh38] Chr12:6457278 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.1440-2A>G |
single nucleotide variant |
SCNN1A-related disorder [RCV000779112] |
Chr12:6349223 [GRCh38] Chr12:6458389 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.2T>C (p.Met1Thr) |
single nucleotide variant |
SCNN1A-related disorder [RCV000779113] |
Chr12:6374782 [GRCh38] Chr12:6483948 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002501153]|not specified [RCV000825232] |
Chr12:6348802 [GRCh38] Chr12:6457968 [GRCh37] Chr12:12p13.31 |
likely benign |
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) |
copy number gain |
not provided [RCV000767818] |
Chr12:237588..8278292 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1173T>C (p.Tyr391=) |
single nucleotide variant |
not provided [RCV000939603] |
Chr12:6354819 [GRCh38] Chr12:6463985 [GRCh37] Chr12:12p13.31 |
likely benign |
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) |
copy number gain |
not provided [RCV000767819] |
Chr12:189216..8185497 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.339C>T (p.Pro113=) |
single nucleotide variant |
SCNN1A-related disorder [RCV004531009]|not provided [RCV000897274] |
Chr12:6374445 [GRCh38] Chr12:6483611 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002495450]|not provided [RCV000900585] |
Chr12:6355341 [GRCh38] Chr12:6464507 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.129G>A (p.Ala43=) |
single nucleotide variant |
not provided [RCV000981501] |
Chr12:6374655 [GRCh38] Chr12:6483821 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.418T>G (p.Tyr140Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003248883] |
Chr12:6363709 [GRCh38] Chr12:6472875 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) |
copy number gain |
not provided [RCV000767817] |
Chr12:189216..15001420 [GRCh37] Chr12:12p13.33-12.3 |
pathogenic |
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114827]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114826]|not provided [RCV000892931] |
Chr12:6348166 [GRCh38] Chr12:6457332 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs) |
duplication |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000988777] |
Chr12:6354764..6354765 [GRCh38] Chr12:6463930..6463931 [GRCh37] Chr12:12p13.31 |
pathogenic |
GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3 |
copy number gain |
not provided [RCV000848085] |
Chr12:6070459..6737675 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 |
copy number gain |
not provided [RCV000847209] |
Chr12:173786..34496628 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.*386G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114706]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114707] |
Chr12:6347487 [GRCh38] Chr12:6456653 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001115035]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115036]|not provided [RCV000918429] |
Chr12:6374637 [GRCh38] Chr12:6483803 [GRCh37] Chr12:12p13.31 |
benign|likely benign|uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 |
copy number gain |
not provided [RCV000846343] |
Chr12:173786..8393815 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1439+1G>A |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV000988776]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002497281] |
Chr12:6349326 [GRCh38] Chr12:6458492 [GRCh37] Chr12:12p13.31 |
pathogenic|likely pathogenic |
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 |
copy number gain |
not provided [RCV001006470] |
Chr12:274676..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
NM_001038.6(SCNN1A):c.417-15C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001112091]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001115034] |
Chr12:6363725 [GRCh38] Chr12:6472891 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.-54-13G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001109396]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111715]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002482200] |
Chr12:6374850 [GRCh38] Chr12:6484016 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113508]|Inborn genetic diseases [RCV004032179]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113509]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002491358]|SCNN1A-related disorder [RCV004734018] |
Chr12:6349405 [GRCh38] Chr12:6458571 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*727A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001108974]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001108975] |
Chr12:6347146 [GRCh38] Chr12:6456312 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NC_000012.11:g.(?_4368352)_(9027607_?)dup |
duplication |
Lymphoproliferative syndrome 2 [RCV003105682] |
Chr12:4368352..9027607 [GRCh37] Chr12:12p13.32-13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1360+277C>T |
single nucleotide variant |
not provided [RCV001582090] |
Chr12:6354161 [GRCh38] Chr12:6463327 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.416+71A>G |
single nucleotide variant |
not provided [RCV001717520] |
Chr12:6374297 [GRCh38] Chr12:6483463 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.684+98C>G |
single nucleotide variant |
not provided [RCV001589639] |
Chr12:6363345 [GRCh38] Chr12:6472511 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1497+56C>G |
single nucleotide variant |
not provided [RCV001681634] |
Chr12:6349108 [GRCh38] Chr12:6458274 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1360+335A>G |
single nucleotide variant |
not provided [RCV001557650] |
Chr12:6354103 [GRCh38] Chr12:6463269 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1629+95G>A |
single nucleotide variant |
not provided [RCV001552854] |
Chr12:6348632 [GRCh38] Chr12:6457798 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.-54-327A>G |
single nucleotide variant |
not provided [RCV001552862] |
Chr12:6375164 [GRCh38] Chr12:6484330 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn) |
single nucleotide variant |
not provided [RCV000930615] |
Chr12:6363513 [GRCh38] Chr12:6472679 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.*1020G>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114599]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114598] |
Chr12:6346853 [GRCh38] Chr12:6456019 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*509T>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113333]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113332] |
Chr12:6347364 [GRCh38] Chr12:6456530 [GRCh37] Chr12:12p13.31 |
benign|likely benign |
NM_001038.6(SCNN1A):c.1440-10C>T |
single nucleotide variant |
not provided [RCV000935273] |
Chr12:6349231 [GRCh38] Chr12:6458397 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.783G>A (p.Ser261=) |
single nucleotide variant |
not provided [RCV000912864] |
Chr12:6362143 [GRCh38] Chr12:6471309 [GRCh37] Chr12:12p13.31 |
likely benign |
NC_000012.12:g.6346794G>A |
single nucleotide variant |
not provided [RCV001661027] |
Chr12:6346794 [GRCh38] Chr12:6455960 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1554-6C>G |
single nucleotide variant |
not provided [RCV000994828] |
Chr12:6348808 [GRCh38] Chr12:6457974 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.728C>T (p.Ser243Leu) |
single nucleotide variant |
not provided [RCV000994829] |
Chr12:6362198 [GRCh38] Chr12:6471364 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.875+146G>T |
single nucleotide variant |
not provided [RCV001651399] |
Chr12:6361905 [GRCh38] Chr12:6471071 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.417-95G>A |
single nucleotide variant |
not provided [RCV001608253] |
Chr12:6363805 [GRCh38] Chr12:6472971 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1629+57G>T |
single nucleotide variant |
not provided [RCV001608674] |
Chr12:6348670 [GRCh38] Chr12:6457836 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1629+51A>G |
single nucleotide variant |
not provided [RCV001636519] |
Chr12:6348676 [GRCh38] Chr12:6457842 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.979+159C>T |
single nucleotide variant |
not provided [RCV001685151] |
Chr12:6355618 [GRCh38] Chr12:6464784 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.417-200T>G |
single nucleotide variant |
not provided [RCV001653063] |
Chr12:6363910 [GRCh38] Chr12:6473076 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.875+293G>T |
single nucleotide variant |
not provided [RCV001715051] |
Chr12:6361758 [GRCh38] Chr12:6470924 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1553+32G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001807474]|Liddle syndrome 3 [RCV001807475]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001807473]|not provided [RCV001654180] |
Chr12:6348918 [GRCh38] Chr12:6458084 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1360+221G>A |
single nucleotide variant |
not provided [RCV001656533] |
Chr12:6354217 [GRCh38] Chr12:6463383 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.684+284ATT[6] |
microsatellite |
not provided [RCV001638559] |
Chr12:6363139..6363141 [GRCh38] Chr12:6472305..6472307 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.*542G>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001111331]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111330] |
Chr12:6347331 [GRCh38] Chr12:6456497 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001111427]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111428] |
Chr12:6347879 [GRCh38] Chr12:6457045 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.*69A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001109084]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001109083] |
Chr12:6347804 [GRCh38] Chr12:6456970 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001111617]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111618]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002482203]|not provided [RCV004693677] |
Chr12:6362149 [GRCh38] Chr12:6471315 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113423]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113424] |
Chr12:6348078 [GRCh38] Chr12:6457244 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113426]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113425] |
Chr12:6348082 [GRCh38] Chr12:6457248 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*666T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001108977]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001108976] |
Chr12:6347207 [GRCh38] Chr12:6456373 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1360+259G>A |
single nucleotide variant |
not provided [RCV001685714] |
Chr12:6354179 [GRCh38] Chr12:6463345 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1242+54C>T |
single nucleotide variant |
not provided [RCV001725757] |
Chr12:6354696 [GRCh38] Chr12:6463862 [GRCh37] Chr12:12p13.31 |
benign |
NM_001159575.2(SCNN1A):c.-92A>G |
single nucleotide variant |
not provided [RCV001614237] |
Chr12:6377358 [GRCh38] Chr12:6486524 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1629+63G>A |
single nucleotide variant |
not provided [RCV001694710] |
Chr12:6348664 [GRCh38] Chr12:6457830 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.417-154G>T |
single nucleotide variant |
not provided [RCV001679470] |
Chr12:6363864 [GRCh38] Chr12:6473030 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.*467C>A |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113337]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113336] |
Chr12:6347406 [GRCh38] Chr12:6456572 [GRCh37] Chr12:12p13.31 |
benign|uncertain significance |
NM_001038.6(SCNN1A):c.-59G>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001111716]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111717] |
Chr12:6375509 [GRCh38] Chr12:6484675 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.*468C>T |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113334]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001113335] |
Chr12:6347405 [GRCh38] Chr12:6456571 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001113507]|Inborn genetic diseases [RCV004032165]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111518] |
Chr12:6349372 [GRCh38] Chr12:6458538 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.*180T>C |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114711]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114710] |
Chr12:6347693 [GRCh38] Chr12:6456859 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.875+2dup |
duplication |
not provided [RCV001091137] |
Chr12:6362048..6362049 [GRCh38] Chr12:6471214..6471215 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.*352A>G |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001114708]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001114709] |
Chr12:6347521 [GRCh38] Chr12:6456687 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001109186]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001111517] |
Chr12:6349170 [GRCh38] Chr12:6458336 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 |
copy number gain |
not provided [RCV001537906] |
Chr12:189145..7730395 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) |
deletion |
Pseudohypoaldosteronism [RCV001328259]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002499461] |
Chr12:6363553 [GRCh38] Chr12:6472719 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001353353]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002486469] |
Chr12:6363670 [GRCh38] Chr12:6472836 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.754del (p.Tyr252fs) |
deletion |
not provided [RCV001382374] |
Chr12:6362172 [GRCh38] Chr12:6471338 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1439+1G>T |
single nucleotide variant |
not provided [RCV001355752] |
Chr12:6349326 [GRCh38] Chr12:6458492 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NC_000012.11:g.(?_6438478)_(7362819_?)dup |
duplication |
Temtamy syndrome [RCV001365174] |
Chr12:6438478..7362819 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1361-2A>G |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV001280871] |
Chr12:6349407 [GRCh38] Chr12:6458573 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1834del (p.Ser612fs) |
deletion |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001337102] |
Chr12:6348049 [GRCh38] Chr12:6457215 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1553+73G>A |
single nucleotide variant |
not provided [RCV001710777] |
Chr12:6348877 [GRCh38] Chr12:6458043 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1361-132C>T |
single nucleotide variant |
not provided [RCV001618980] |
Chr12:6349537 [GRCh38] Chr12:6458703 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1789C>T (p.Arg597Ter) |
single nucleotide variant |
not provided [RCV001783718] |
Chr12:6348094 [GRCh38] Chr12:6457260 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001804232]|not provided [RCV004692734] |
Chr12:6348980 [GRCh38] Chr12:6458146 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 |
copy number gain |
Obesity [RCV001801197] |
Chr12:146240..8330229 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV001804234]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002478036]|not provided [RCV002542375] |
Chr12:6349340 [GRCh38] Chr12:6458506 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NC_000012.11:g.(?_6438478)_(8248686_?)dup |
duplication |
Temtamy syndrome [RCV003120743]|not provided [RCV001913769] |
Chr12:6438478..8248686 [GRCh37] Chr12:12p13.31 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 12p13.31(chr12:6407226-6491280)x1 |
copy number loss |
not provided [RCV001834191] |
Chr12:6407226..6491280 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NC_000012.11:g.(?_6438478)_(8756953_?)dup |
duplication |
not provided [RCV001970781] |
Chr12:6438478..8756953 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) |
copy number gain |
not specified [RCV002052955] |
Chr12:173786..25286865 [GRCh37] Chr12:12p13.33-12.1 |
pathogenic |
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) |
copy number gain |
not specified [RCV002052958] |
Chr12:173786..37869301 [GRCh37] Chr12:12p13.33-q11 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) |
copy number gain |
not specified [RCV002052957] |
Chr12:173786..34835837 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.1360+2T>G |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002052208] |
Chr12:6354436 [GRCh38] Chr12:6463602 [GRCh37] Chr12:12p13.31 |
pathogenic |
NC_000012.11:g.(?_6438478)_(9027607_?)dup |
duplication |
not provided [RCV001943267] |
Chr12:6438478..9027607 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1762T>G (p.Phe588Val) |
single nucleotide variant |
not provided [RCV002273482] |
Chr12:6348121 [GRCh38] Chr12:6457287 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.655dup (p.Trp219fs) |
duplication |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002282741] |
Chr12:6363471..6363472 [GRCh38] Chr12:6472637..6472638 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NM_001038.6(SCNN1A):c.1579TTC[1] (p.Phe528del) |
microsatellite |
Neurodevelopmental delay [RCV002274369] |
Chr12:6348772..6348774 [GRCh38] Chr12:6457938..6457940 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.1360+47C>T |
single nucleotide variant |
not provided [RCV002286073] |
Chr12:6354391 [GRCh38] Chr12:6463557 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1927G>T (p.Ala643Ser) |
single nucleotide variant |
not provided [RCV002292076] |
Chr12:6347956 [GRCh38] Chr12:6457122 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.701C>T (p.Ser234Leu) |
single nucleotide variant |
not provided [RCV002292096] |
Chr12:6362225 [GRCh38] Chr12:6471391 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.652GACTGGAAG[3] (p.Lys223_Ile224insAspTrpLys) |
microsatellite |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV002282786] |
Chr12:6363457..6363458 [GRCh38] Chr12:6472623..6472624 [GRCh37] Chr12:12p13.31 |
uncertain significance |
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 |
copy number gain |
not provided [RCV002472514] |
Chr12:173787..8320544 [GRCh37] Chr12:12p13.33-13.31 |
pathogenic |
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 |
copy number gain |
Pallister-Killian syndrome [RCV003154827] |
Chr12:176047..34179852 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.1539C>T (p.Thr513=) |
single nucleotide variant |
not provided [RCV002995173] |
Chr12:6348964 [GRCh38] Chr12:6458130 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.192C>T (p.Asn64=) |
single nucleotide variant |
not provided [RCV002967925] |
Chr12:6374592 [GRCh38] Chr12:6483758 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1242+19C>T |
single nucleotide variant |
not provided [RCV002771108] |
Chr12:6354731 [GRCh38] Chr12:6463897 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.272G>T (p.Trp91Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002733546] |
Chr12:6374512 [GRCh38] Chr12:6483678 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1518A>G (p.Leu506=) |
single nucleotide variant |
not provided [RCV002771203] |
Chr12:6348985 [GRCh38] Chr12:6458151 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1576A>G (p.Ile526Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002774402] |
Chr12:6348780 [GRCh38] Chr12:6457946 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.128C>T (p.Ala43Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004066912]|not provided [RCV002681801] |
Chr12:6374656 [GRCh38] Chr12:6483822 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1858C>G (p.His620Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002882828] |
Chr12:6348025 [GRCh38] Chr12:6457191 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1361-6C>G |
single nucleotide variant |
not provided [RCV002996522] |
Chr12:6349411 [GRCh38] Chr12:6458577 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.835A>C (p.Ile279Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002762287] |
Chr12:6362091 [GRCh38] Chr12:6471257 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1949G>A (p.Arg650His) |
single nucleotide variant |
Inborn genetic diseases [RCV002659836]|Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV004720385] |
Chr12:6347934 [GRCh38] Chr12:6457100 [GRCh37] Chr12:12p13.31 |
likely benign|uncertain significance |
NM_001038.6(SCNN1A):c.875+15C>T |
single nucleotide variant |
not provided [RCV002795662] |
Chr12:6362036 [GRCh38] Chr12:6471202 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1361G>T (p.Gly454Val) |
single nucleotide variant |
not provided [RCV003100400] |
Chr12:6349405 [GRCh38] Chr12:6458571 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.778C>T (p.Leu260=) |
single nucleotide variant |
not provided [RCV003080127] |
Chr12:6362148 [GRCh38] Chr12:6471314 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1931A>G (p.Tyr644Cys) |
single nucleotide variant |
not provided [RCV002621867] |
Chr12:6347952 [GRCh38] Chr12:6457118 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1630-20A>G |
single nucleotide variant |
not provided [RCV002781437] |
Chr12:6348273 [GRCh38] Chr12:6457439 [GRCh37] Chr12:12p13.31 |
benign |
NM_001038.6(SCNN1A):c.1733T>C (p.Val578Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002712510] |
Chr12:6348150 [GRCh38] Chr12:6457316 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1497+19A>T |
single nucleotide variant |
not provided [RCV002805853] |
Chr12:6349145 [GRCh38] Chr12:6458311 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.604C>T (p.Arg202Ter) |
single nucleotide variant |
not provided [RCV002508880] |
Chr12:6363523 [GRCh38] Chr12:6472689 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NM_001038.6(SCNN1A):c.158G>A (p.Arg53His) |
single nucleotide variant |
Inborn genetic diseases [RCV002987806] |
Chr12:6374626 [GRCh38] Chr12:6483792 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1810G>A (p.Glu604Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002804301] |
Chr12:6348073 [GRCh38] Chr12:6457239 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.452A>G (p.Asp151Gly) |
single nucleotide variant |
not provided [RCV002701108] |
Chr12:6363675 [GRCh38] Chr12:6472841 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1554-17T>C |
single nucleotide variant |
not provided [RCV002576039] |
Chr12:6348819 [GRCh38] Chr12:6457985 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1743C>A (p.Phe581Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002596742]|not provided [RCV002596741] |
Chr12:6348140 [GRCh38] Chr12:6457306 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.758G>A (p.Arg253His) |
single nucleotide variant |
Inborn genetic diseases [RCV002956758] |
Chr12:6362168 [GRCh38] Chr12:6471334 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1998G>C (p.Leu666=) |
single nucleotide variant |
not provided [RCV002766764] |
Chr12:6347885 [GRCh38] Chr12:6457051 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1540G>A (p.Val514Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002802830] |
Chr12:6348963 [GRCh38] Chr12:6458129 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.980-7C>T |
single nucleotide variant |
not provided [RCV002875658] |
Chr12:6355442 [GRCh38] Chr12:6464608 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1629+3A>G |
single nucleotide variant |
not provided [RCV002626773] |
Chr12:6348724 [GRCh38] Chr12:6457890 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.805T>C (p.Ser269Pro) |
single nucleotide variant |
not provided [RCV002578960] |
Chr12:6362121 [GRCh38] Chr12:6471287 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1497+17G>T |
single nucleotide variant |
not provided [RCV002580902] |
Chr12:6349147 [GRCh38] Chr12:6458313 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003229648]|not provided [RCV002923007] |
Chr12:6348111 [GRCh38] Chr12:6457277 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.999C>T (p.Arg333=) |
single nucleotide variant |
not provided [RCV003086636] |
Chr12:6355416 [GRCh38] Chr12:6464582 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.210C>T (p.Gly70=) |
single nucleotide variant |
SCNN1A-related disorder [RCV004545468]|not provided [RCV002988729] |
Chr12:6374574 [GRCh38] Chr12:6483740 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.476T>A (p.Phe159Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002896129] |
Chr12:6363651 [GRCh38] Chr12:6472817 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.631C>T (p.Arg211Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002936279] |
Chr12:6363496 [GRCh38] Chr12:6472662 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.166C>T (p.Arg56Ter) |
single nucleotide variant |
not provided [RCV003062479] |
Chr12:6374618 [GRCh38] Chr12:6483784 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.89G>A (p.Gly30Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002919995] |
Chr12:6374695 [GRCh38] Chr12:6483861 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.440T>G (p.Leu147Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002808742] |
Chr12:6363687 [GRCh38] Chr12:6472853 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1246_1281dup (p.Lys427_Glu428insCysIleHisSerCysPheGlnGluSerMetIleLys) |
duplication |
not provided [RCV002634513] |
Chr12:6354516..6354517 [GRCh38] Chr12:6463682..6463683 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.546G>T (p.Gly182=) |
single nucleotide variant |
not provided [RCV003069155] |
Chr12:6363581 [GRCh38] Chr12:6472747 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1568A>G (p.Lys523Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002723360] |
Chr12:6348788 [GRCh38] Chr12:6457954 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1440-16C>G |
single nucleotide variant |
not provided [RCV002583841] |
Chr12:6349237 [GRCh38] Chr12:6458403 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.822G>A (p.Thr274=) |
single nucleotide variant |
not provided [RCV002604669] |
Chr12:6362104 [GRCh38] Chr12:6471270 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1144-15T>C |
single nucleotide variant |
not provided [RCV002585819] |
Chr12:6354863 [GRCh38] Chr12:6464029 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.799_800del (p.Leu267fs) |
microsatellite |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV004797322] |
Chr12:6362126..6362127 [GRCh38] Chr12:6471292..6471293 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NM_001038.6(SCNN1A):c.8G>A (p.Gly3Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003255986] |
Chr12:6374776 [GRCh38] Chr12:6483942 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.2005C>G (p.Pro669Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003193865] |
Chr12:6347878 [GRCh38] Chr12:6457044 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.470C>T (p.Thr157Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003219370] |
Chr12:6363657 [GRCh38] Chr12:6472823 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1866G>A (p.Met622Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003220272] |
Chr12:6348017 [GRCh38] Chr12:6457183 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.148del (p.Glu50fs) |
deletion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003225646] |
Chr12:6374636 [GRCh38] Chr12:6483802 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.92T>C (p.Leu31Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003196390] |
Chr12:6374692 [GRCh38] Chr12:6483858 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1222C>T (p.Pro408Ser) |
single nucleotide variant |
not provided [RCV003136524] |
Chr12:6354770 [GRCh38] Chr12:6463936 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
not provided [RCV003136525] |
Chr12:6355366 [GRCh38] Chr12:6464532 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.214A>G (p.Ile72Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003198660] |
Chr12:6374570 [GRCh38] Chr12:6483736 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.937_938delinsTC (p.Asn313Ser) |
indel |
not provided [RCV003228453] |
Chr12:6355818..6355819 [GRCh38] Chr12:6464984..6464985 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV003320427] |
Chr12:6374651 [GRCh38] Chr12:6483817 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1298A>G (p.Tyr433Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003305139] |
Chr12:6354500 [GRCh38] Chr12:6463666 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1582T>C (p.Phe528Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003263673] |
Chr12:6348774 [GRCh38] Chr12:6457940 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.131A>C (p.Glu44Ala) |
single nucleotide variant |
not provided [RCV003396142] |
Chr12:6374653 [GRCh38] Chr12:6483819 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1757G>A (p.Arg586Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003349859] |
Chr12:6348126 [GRCh38] Chr12:6457292 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1168G>A (p.Asp390Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003354406] |
Chr12:6354824 [GRCh38] Chr12:6463990 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.684+12dup |
duplication |
not provided [RCV003880085] |
Chr12:6363430..6363431 [GRCh38] Chr12:6472596..6472597 [GRCh37] Chr12:12p13.31 |
benign |
Single allele |
duplication |
not provided [RCV003448692] |
Chr12:188053..34856694 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.652GACTGGAAG[1] (p.218DWK[1]) |
microsatellite |
not provided [RCV003482051] |
Chr12:6363458..6363466 [GRCh38] Chr12:6472624..6472632 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1481C>T (p.Pro494Leu) |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003388762]|not provided [RCV003553889] |
Chr12:6349180 [GRCh38] Chr12:6458346 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.607G>T (p.Ala203Ser) |
single nucleotide variant |
SCNN1A-related disorder [RCV004527927] |
Chr12:6363520 [GRCh38] Chr12:6472686 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1106T>G (p.Leu369Trp) |
single nucleotide variant |
not provided [RCV003396141] |
Chr12:6355309 [GRCh38] Chr12:6464475 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.676T>C (p.Phe226Leu) |
single nucleotide variant |
not provided [RCV003441448] |
Chr12:6363451 [GRCh38] Chr12:6472617 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.508C>G (p.Leu170Val) |
single nucleotide variant |
SCNN1A-related disorder [RCV004528586] |
Chr12:6363619 [GRCh38] Chr12:6472785 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1828G>A (p.Ala610Thr) |
single nucleotide variant |
not provided [RCV003442392] |
Chr12:6348055 [GRCh38] Chr12:6457221 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 2 [RCV003447744] |
Chr12:6348727 [GRCh38] Chr12:6457893 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1361-3C>G |
single nucleotide variant |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV003883309] |
Chr12:6349408 [GRCh38] Chr12:6458574 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.2004G>C (p.Gly668=) |
single nucleotide variant |
not provided [RCV003575530] |
Chr12:6347879 [GRCh38] Chr12:6457045 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1305del (p.Tyr436fs) |
deletion |
not provided [RCV003557699] |
Chr12:6354493 [GRCh38] Chr12:6463659 [GRCh37] Chr12:12p13.31 |
pathogenic |
NM_001038.6(SCNN1A):c.306C>T (p.Phe102=) |
single nucleotide variant |
not provided [RCV003717646] |
Chr12:6374478 [GRCh38] Chr12:6483644 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1148C>T (p.Thr383Ile) |
single nucleotide variant |
not provided [RCV003668685] |
Chr12:6354844 [GRCh38] Chr12:6464010 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1966T>C (p.Ser656Pro) |
single nucleotide variant |
not provided [RCV003670525] |
Chr12:6347917 [GRCh38] Chr12:6457083 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1144-9G>T |
single nucleotide variant |
SCNN1A-related disorder [RCV004539096]|not provided [RCV003733466] |
Chr12:6354857 [GRCh38] Chr12:6464023 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1242+20C>T |
single nucleotide variant |
not provided [RCV003819272] |
Chr12:6354730 [GRCh38] Chr12:6463896 [GRCh37] Chr12:12p13.31 |
likely benign |
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 |
copy number gain |
not specified [RCV003986979] |
Chr12:173786..34835641 [GRCh37] Chr12:12p13.33-11.1 |
pathogenic |
NM_001038.6(SCNN1A):c.318C>T (p.Phe106=) |
single nucleotide variant |
not provided [RCV003722886] |
Chr12:6374466 [GRCh38] Chr12:6483632 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.1870C>T (p.Leu624=) |
single nucleotide variant |
not provided [RCV003854299] |
Chr12:6348013 [GRCh38] Chr12:6457179 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.516C>T (p.Ala172=) |
single nucleotide variant |
not provided [RCV003866141] |
Chr12:6363611 [GRCh38] Chr12:6472777 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.567_568delinsTT (p.Gln189_Arg190delinsHisCys) |
indel |
not provided [RCV003735982] |
Chr12:6363559..6363560 [GRCh38] Chr12:6472725..6472726 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1872G>A (p.Leu624=) |
single nucleotide variant |
not provided [RCV003821625] |
Chr12:6348011 [GRCh38] Chr12:6457177 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.875+3_875+6del |
deletion |
SCNN1A-related disorder [RCV004542624] |
Chr12:6362045..6362048 [GRCh38] Chr12:6471211..6471214 [GRCh37] Chr12:12p13.31 |
likely pathogenic |
NM_001038.6(SCNN1A):c.*3G>A |
single nucleotide variant |
SCNN1A-related disorder [RCV004545474] |
Chr12:6347870 [GRCh38] Chr12:6457036 [GRCh37] Chr12:12p13.31 |
likely benign |
NM_001038.6(SCNN1A):c.337C>G (p.Pro113Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004454967] |
Chr12:6374447 [GRCh38] Chr12:6483613 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1108C>T (p.Arg370Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004454961] |
Chr12:6355307 [GRCh38] Chr12:6464473 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1697T>C (p.Val566Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004454965] |
Chr12:6348186 [GRCh38] Chr12:6457352 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1859A>G (p.His620Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004454966] |
Chr12:6348024 [GRCh38] Chr12:6457190 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1312C>T (p.Arg438Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004454964] |
Chr12:6354486 [GRCh38] Chr12:6463652 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1183A>G (p.Thr395Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004454963] |
Chr12:6354809 [GRCh38] Chr12:6463975 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1486G>A (p.Val496Met) |
single nucleotide variant |
Brugada syndrome 1 [RCV004577703] |
Chr12:6349175 [GRCh38] Chr12:6458341 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.484T>C (p.Tyr162His) |
single nucleotide variant |
Inborn genetic diseases [RCV004658816] |
Chr12:6363643 [GRCh38] Chr12:6472809 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NC_000012.11:g.(?_6438478)_(6950528_?)dup |
duplication |
Lymphoproliferative syndrome 2 [RCV004578457] |
Chr12:6438478..6950528 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.481C>A (p.Leu161Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004658817] |
Chr12:6363646 [GRCh38] Chr12:6472812 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.552_553insT (p.Pro185fs) |
insertion |
Pseudohypoaldosteronism, type IB1, autosomal recessive [RCV004698775] |
Chr12:6363574..6363575 [GRCh38] Chr12:6472740..6472741 [GRCh37] Chr12:12p13.31 |
pathogenic |
NC_000012.11:g.(?_6457039)_(6483949_?)dup |
duplication |
not provided [RCV004578487] |
Chr12:6457039..6483949 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1010A>G (p.Asn337Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004674618] |
Chr12:6355405 [GRCh38] Chr12:6464571 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1527G>T (p.Gln509His) |
single nucleotide variant |
Inborn genetic diseases [RCV004674619] |
Chr12:6348976 [GRCh38] Chr12:6458142 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1345A>C (p.Lys449Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004674621] |
Chr12:6354453 [GRCh38] Chr12:6463619 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln) |
single nucleotide variant |
not specified [RCV004766726] |
Chr12:6355306 [GRCh38] Chr12:6464472 [GRCh37] Chr12:12p13.31 |
uncertain significance |
NM_001038.6(SCNN1A):c.-54-40T>C |
single nucleotide variant |
SCNN1A-related disorder [RCV004736133] |
Chr12:6374877 [GRCh38] Chr12:6484043 [GRCh37] Chr12:12p13.31 |
likely benign |