ClinVar for MedGen (Select 1648476) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443065	NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn)	SCNN1G (D213N)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 787440	NM_001039.4(SCNN1G):c.1570-9G>A	SCNN1G	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 736256	NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=)	SCNN1G	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 3 +3 more	GLikely benign
Select item 565277	NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs)	SCNN1G (E583fs)	Deletion (frameshift variant)	Liddle syndrome 2	GPathogenic
Select item 561163	NM_001039.4(SCNN1G):c.1699C>T (p.Gln567Ter)	SCNN1G	Single nucleotide variant (nonsense)	Liddle syndrome 2	GPathogenic
Select item 451433	NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	SCNN1G (M517T)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GConflicting classifications of pathogenicity
Select item 318381	NM_001039.4(SCNN1G):c.*1370G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 318380	NM_001039.4(SCNN1G):c.*1369C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318379	NM_001039.4(SCNN1G):c.*1261G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign/Likely benign
Select item 318378	NM_001039.4(SCNN1G):c.*1198A>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 318377	NM_001039.4(SCNN1G):c.*1147A>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 318376	NM_001039.4(SCNN1G):c.*979T>C	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 318375	NM_001039.4(SCNN1G):c.*790C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 318373	NM_001039.4(SCNN1G):c.*789T>C	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 318372	NM_001039.4(SCNN1G):c.*675A>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318371	NM_001039.4(SCNN1G):c.*659T>C	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318370	NM_001039.4(SCNN1G):c.*606T>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318368	NM_001039.4(SCNN1G):c.*584G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 318367	NM_001039.4(SCNN1G):c.*572A>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318366	NM_001039.4(SCNN1G):c.*328G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 318365	NM_001039.4(SCNN1G):c.*268G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318364	NM_001039.4(SCNN1G):c.*236C>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 318363	NM_001039.4(SCNN1G):c.*159T>G	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +2 more	GBenign
Select item 318362	NM_001039.4(SCNN1G):c.*154G>T	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GBenign
Select item 318361	NM_001039.4(SCNN1G):c.*106G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	Liddle syndrome 2 +1 more	GBenign
Select item 318360	NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe)	SCNN1G (L609F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318359	NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	SCNN1G (N530S)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 318358	NM_001039.4(SCNN1G):c.1569+10G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 318357	NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 318356	NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu)	SCNN1G (K460E)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 318355	NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg)	SCNN1G (H396R)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +2 more	GUncertain significance
Select item 318354	NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 318353	NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)	SCNN1G (T259N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318352	NM_001039.4(SCNN1G):c.663G>T (p.Ser221=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 318351	NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln)	SCNN1G (R180Q)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GUncertain significance
Select item 318350	NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp)	SCNN1G (R180W)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 318349	NM_001039.4(SCNN1G):c.477G>A (p.Pro159=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 318348	NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala)	SCNN1G (G149A)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GUncertain significance
Select item 318347	NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign/Likely benign
Select item 318346	NM_001039.4(SCNN1G):c.399G>A (p.Glu133=)	SCNN1G	Single nucleotide variant (synonymous variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 318345	NM_001039.4(SCNN1G):c.-23G>A	SCNN1G	Single nucleotide variant (5 prime UTR variant)	Liddle syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 318344	NM_001039.4(SCNN1G):c.-31A>G	SCNN1G	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GBenign
Select item 318343	NM_001039.4(SCNN1G):c.-44-4C>G	SCNN1G	Single nucleotide variant (intron variant)	Liddle syndrome 2 +2 more	GBenign
Select item 286685	NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 285901	NM_001039.4(SCNN1G):c.699C>T (p.His233=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 178805	NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 165177	NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign
Select item 165176	NM_001039.4(SCNN1G):c.1176+14A>G	SCNN1G	Single nucleotide variant (intron variant)	Liddle syndrome 2 +4 more	GBenign
Select item 165175	NM_001039.4(SCNN1G):c.1432-7G>A	SCNN1G	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 165174	NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 165173	NM_001039.4(SCNN1G):c.474T>C (p.Ile158=)	SCNN1G	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 165172	NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 8829	NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	SCNN1G (E197K)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +4 more	GBenign/Likely benign
Select item 8828	NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)	SCNN1G (G183S)	Single nucleotide variant (missense variant)	SCNN1G-related disorder +4 more	GBenign/Likely benign
Select item 8824	NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter)	SCNN1G (W573*)	Single nucleotide variant (nonsense)	Liddle syndrome 2	GPathogenic

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Items: 81