ClinVar for MedGen (Select 1823950) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024263	NM_001038.6(SCNN1A):c.1361-3C>G	SCNN1A	Single nucleotide variant (intron variant)	Liddle syndrome 3 +2 more	GPathogenic
Select item 2627499	NM_001038.6(SCNN1A):c.1481C>T (p.Pro494Leu)	SCNN1A (P494L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2572577	NM_001038.6(SCNN1A):c.398G>A (p.Cys133Tyr)	SCNN1A (C133Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1	GUncertain significance
Select item 2500734	NM_001038.6(SCNN1A):c.148del (p.Glu50fs)	SCNN1A (E109fs +2 more)	Deletion (frameshift variant)	Autosomal recessive pseudohypoaldosteronism type 1	GPathogenic
Select item 2056764	NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln)	SCNN1A (R591Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1704399	NM_001038.6(SCNN1A):c.652GACTGGAAG[3] (p.Lys223_Ile224insAspTrpLys)	SCNN1A	Microsatellite (inframe_insertion)	Autosomal recessive pseudohypoaldosteronism type 1	GUncertain significance
Select item 1704354	NM_001038.6(SCNN1A):c.655dup (p.Trp219fs)	SCNN1A (W242fs +2 more)	Duplication (frameshift variant)	Autosomal recessive pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1526188	NM_001038.6(SCNN1A):c.1360+2T>G	SCNN1A	Single nucleotide variant (splice donor variant)	Autosomal recessive pseudohypoaldosteronism type 1	GPathogenic
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1341532	NM_000336.3(SCNN1B):c.539C>A (p.Ser180Ter)	SCNN1B (S180*)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1	GPathogenic
Select item 1335207	NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	SCNN1B (I441T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1331718	NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp)	SCNN1A (R476W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1323566	NM_000336.3(SCNN1B):c.648dup (p.Glu217fs)	SCNN1B (E217fs)	Duplication (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GPathogenic/Likely pathogenic
Select item 1313539	NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	SCNN1G (R157Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3 +3 more	GUncertain significance
Select item 1304353	NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	SCNN1B (R410C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1303165	NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	SCNN1B (E632K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 1263004	NM_000336.3(SCNN1B):c.1152+43G>A	SCNN1B	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign
Select item 1257202	NM_001039.4(SCNN1G):c.1494-49A>G	SCNN1G	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 1256466	NM_000336.3(SCNN1B):c.1152+10T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1246088	NM_001038.6(SCNN1A):c.1553+32G>A	SCNN1A	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 1245056	NM_001039.4(SCNN1G):c.1373+29T>C	SCNN1G	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 1242641	NM_001039.4(SCNN1G):c.1493+33T>G	SCNN1G	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1185021	NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	SCNN1G (L511Q)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 1120080	NM_001039.4(SCNN1G):c.1318C>T (p.Arg440Ter)	SCNN1G (R440*)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1	GLikely pathogenic
Select item 1098673	NM_000336.2:c.-7632_-9+6393del	SCNN1B	Deletion	Autosomal recessive pseudohypoaldosteronism type 1	GUncertain significance
Select item 1048766	NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe)	SCNN1A (I153F +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GUncertain significance
Select item 996084	NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	SCNN1B (V578M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GUncertain significance
Select item 992425	NM_001038.6(SCNN1A):c.1361-2A>G	SCNN1A	Single nucleotide variant (splice acceptor variant)	Autosomal recessive pseudohypoaldosteronism type 1	GPathogenic
Select item 989360	NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	SCNN1B (S177N)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 988230	NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	SCNN1A (R192fs +2 more)	Deletion (frameshift variant)	Liddle syndrome 3 +2 more	GPathogenic
Select item 888488	NM_001039.4(SCNN1G):c.*1243C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 888427	NM_001039.4(SCNN1G):c.*393T>C	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 888366	NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 887970	NM_000336.3(SCNN1B):c.*446C>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 887912	NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)	SCNN1B (R597C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887856	NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 887721	NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887720	NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 887662	NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)	SCNN1B (L250V)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 887661	NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	SCNN1B (R206Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887470	NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)	SCNN1B (R156Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 887418	NM_000336.3(SCNN1B):c.6C>T (p.His2=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 887236	NM_001039.4(SCNN1G):c.*909C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 887172	NM_001039.4(SCNN1G):c.*230C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 886714	NM_000336.3(SCNN1B):c.*241G>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 886656	NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)	SCNN1B (T586I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 886233	NM_001039.4(SCNN1G):c.*789T>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 886157	NM_001039.4(SCNN1G):c.*99C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 886156	NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser)	SCNN1G (G621S)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 886092	NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys)	SCNN1G (E314K)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 886034	NM_001039.4(SCNN1G):c.132C>T (p.Ile44=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 885646	NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)	SCNN1B (V582E)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 885580	NM_000336.3(SCNN1B):c.1404+7C>T	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 885512	NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	SCNN1B (R410H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 885326	NM_001039.4(SCNN1G):c.*591G>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 885325	NM_001039.4(SCNN1G):c.*491G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 885260	NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val)	SCNN1G (A614V)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 885259	NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser)	SCNN1G (W575S)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 885190	NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln)	SCNN1G (E197Q)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 885119	NM_001039.4(SCNN1G):c.48C>T (p.Pro16=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 884762	NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)	SCNN1B (R597H)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 884706	NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln)	SCNN1B (R565Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 884705	NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 884640	NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)	SCNN1B (M459T)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GConflicting classifications of pathogenicity
Select item 884639	NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys)	SCNN1B (E446K)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 884580	NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser)	SCNN1B (N400S)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 884579	NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr)	SCNN1B (P357T)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 884508	NM_000336.3(SCNN1B):c.776+9C>A	SCNN1B	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 884266	NM_001039.4(SCNN1G):c.*1287C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 884265	NM_001039.4(SCNN1G):c.*1273C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 883927	NM_001038.6(SCNN1A):c.*180T>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883926	NM_001038.6(SCNN1A):c.*352A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883925	NM_001038.6(SCNN1A):c.*386G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883854	NM_001038.6(SCNN1A):c.*1020G>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883257	NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu)	SCNN1A (G454E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 883207	NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg)	SCNN1A (G601R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 883206	NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)	SCNN1A (A625V +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 883148	NM_001038.6(SCNN1A):c.*467C>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 883147	NM_001038.6(SCNN1A):c.*468C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 883146	NM_001038.6(SCNN1A):c.*509T>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GBenign/Likely benign
Select item 882421	NM_001038.6(SCNN1A):c.417-15C>T	SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 882225	NM_001038.6(SCNN1A):c.-59G>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 882174	NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met)	SCNN1A (I282M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 882113	NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe)	SCNN1A (S465F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 882060	NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 881985	NM_001038.6(SCNN1A):c.*542G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 880835	NM_001038.6(SCNN1A):c.-54-13G>A	SCNN1A	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 880714	NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=)	SCNN1A	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 880643	NM_001038.6(SCNN1A):c.*69A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 880566	NM_001038.6(SCNN1A):c.*666T>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GUncertain significance
Select item 880565	NM_001038.6(SCNN1A):c.*727A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 816650	NM_001039.4(SCNN1G):c.1177-7C>T	SCNN1G	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1	GUncertain significance
Select item 808015	NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 804476	NM_001039.4(SCNN1G):c.142dup (p.Arg48fs)	SCNN1G (R48fs)	Duplication (frameshift variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GLikely pathogenic
Select item 803226	NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys)	SCNN1G (N192K)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1	GUncertain significance
Select item 802814	NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs)	SCNN1A (K469fs +2 more)	Duplication (frameshift variant)	Autosomal recessive pseudohypoaldosteronism type 1	GPathogenic
Select item 802813	NM_001038.6(SCNN1A):c.1439+1G>A	SCNN1A	Single nucleotide variant (splice donor variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GPathogenic/Likely pathogenic
Select item 799422	NM_001039.4(SCNN1G):c.819G>C (p.Thr273=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GLikely benign
Select item 789831	NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	SCNN1B	Single nucleotide variant (synonymous variant)	SCNN1B-related disorder +5 more	GBenign/Likely benign
Select item 787440	NM_001039.4(SCNN1G):c.1570-9G>A	SCNN1G	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign

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