ClinVar for MedGen (Select 414437) - ClinVar

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Items: 96

	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 2664769	NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2	GUncertain significance
Select item 2575226	NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)	SCNN1A (E104Q +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2	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 1331716	NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln)	SCNN1A (R508Q +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2	GUncertain significance
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 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 988230	NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	SCNN1A (R192fs +2 more)	Deletion (frameshift variant)	Liddle syndrome 3 +2 more	GPathogenic
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)	Autosomal recessive pseudohypoaldosteronism type 1 +2 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	SCNN1A, LTBR	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)	Bronchiectasis with or without elevated sweat chloride 2 +1 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 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 779151	NM_001038.6(SCNN1A):c.126G>A (p.Thr42=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 742200	NM_001038.6(SCNN1A):c.147C>T (p.Ile49=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 738498	NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu)	SCNN1A (S530L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GConflicting classifications of pathogenicity
Select item 726376	NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GLikely benign
Select item 719730	NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile)	SCNN1A (V573I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 666751	NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GLikely benign
Select item 632197	NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter)	SCNN1A (R591* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
Select item 591722	NM_001038.6(SCNN1A):c.-55+2T>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 591450	NM_001038.6(SCNN1A):c.69del (p.Asn24fs)	SCNN1A (N47fs +2 more)	Deletion (frameshift variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GLikely pathogenic
Select item 587487	NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys)	SCNN1A (Y484C +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 587486	NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)	SCNN1A (A129T +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GUncertain significance
Select item 561216	NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)	SCNN1A (C479R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 310159	NM_001038.6(SCNN1A):c.-93A>G	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GBenign
Select item 310158	NM_001038.6(SCNN1A):c.-69C>T	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 310157	NM_001038.6(SCNN1A):c.-55+5G>C	LTBR, SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 310156	NM_001038.6(SCNN1A):c.-54-14C>T	SCNN1A (P37L)	Single nucleotide variant (missense variant +1 more)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310155	NM_001038.6(SCNN1A):c.-48A>G	SCNN1A (K8E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign/Likely benign
Select item 310154	NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg)	SCNN1A (K25R +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310153	NM_001038.6(SCNN1A):c.99C>T (p.Pro33=)	SCNN1A	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +5 more	GBenign
Select item 310152	NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg)	SCNN1A (G107R +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GUncertain significance
Select item 310151	NM_001038.6(SCNN1A):c.648G>A (p.Gln216=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310150	NM_001038.6(SCNN1A):c.684+9C>T	SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GBenign/Likely benign
Select item 310149	NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys)	SCNN1A (R249K +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310148	NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys)	SCNN1A (G276C +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310147	NM_001038.6(SCNN1A):c.840C>T (p.Phe280=)	SCNN1A	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 310146	NM_001038.6(SCNN1A):c.876-13C>T	SCNN1A	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 310145	NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser)	SCNN1A (N315S +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310144	NM_001038.6(SCNN1A):c.978C>T (p.Asn326=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +3 more	GBenign/Likely benign
Select item 310143	NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly)	SCNN1A (R350G +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310142	NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly)	SCNN1A (E358G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310141	NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn)	SCNN1A (D393N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 310140	NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg)	SCNN1A (Q414R +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310139	NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310138	NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)	SCNN1A (S495L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 310137	NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=)	SCNN1A	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GConflicting classifications of pathogenicity
Select item 310136	NM_001038.6(SCNN1A):c.1497+6G>C	SCNN1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310135	NM_001038.6(SCNN1A):c.1554-6C>T	SCNN1A	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310134	NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)	SCNN1A (G520A +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310133	NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=)	SCNN1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310132	NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln)	SCNN1A (R589Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 310131	NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=)	SCNN1A	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 310130	NM_001038.6(SCNN1A):c.*4G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GLikely benign
Select item 310129	NM_001038.6(SCNN1A):c.*70T>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 310128	NM_001038.6(SCNN1A):c.*113C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GConflicting classifications of pathogenicity
Select item 310127	NM_001038.6(SCNN1A):c.*114G>A	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310126	NM_001038.6(SCNN1A):c.*296C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 310125	NM_001038.6(SCNN1A):c.*415C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310124	NM_001038.6(SCNN1A):c.*580A>C	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310123	NM_001038.6(SCNN1A):c.*590C>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310122	NM_001038.6(SCNN1A):c.*633G>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GBenign/Likely benign
Select item 310121	NM_001038.6(SCNN1A):c.*736T>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GUncertain significance
Select item 310119	NM_001038.6(SCNN1A):c.*914A>G	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +2 more	GConflicting classifications of pathogenicity
Select item 310118	NM_001038.6(SCNN1A):c.*920C>T	SCNN1A	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 2 +1 more	GBenign/Likely benign
Select item 229238	NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)	SCNN1A (L406I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 229237	NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)	SCNN1A (R333C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 227059	NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)	SCNN1A (R204W +2 more)	Indel (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign/Likely benign
Select item 227058	NM_001038.6(SCNN1A):c.-28T>C	SCNN1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 196305	NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)	SCNN1A (R181W +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2 +4 more	GBenign/Likely benign
Select item 196304	NM_001038.6(SCNN1A):c.540G>T (p.Leu180=)	SCNN1A	Single nucleotide variant (synonymous variant)	Autosomal recessive pseudohypoaldosteronism type 1 +4 more	GBenign/Likely benign
Select item 194190	NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe)	SCNN1A (C618F +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 165165	NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr)	SCNN1A (A334T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 165164	NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala)	SCNN1A (T663A +2 more)	Single nucleotide variant (missense variant)	Liddle syndrome 3 +4 more	GBenign
Select item 9270	NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys)	SCNN1A (R81C +2 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 2	GPathogenic
Select item 9269	NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)	SCNN1A (W493R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 9268	NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile)	SCNN1A (V114I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 9264	NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)	SCNN1A (R508* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive pseudohypoaldosteronism type 1 +2 more	GPathogenic/Likely pathogenic

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Items: 96