ClinVar for MedGen (Select 1684617) - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068118	NM_000336.3(SCNN1B):c.1595G>T (p.Gly532Val)	SCNN1B (G496V +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GUncertain significance
Select item 3065812	NM_000336.3(SCNN1B):c.590G>C (p.Ser197Thr)	SCNN1B (S197T)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GLikely benign
Select item 1705177	NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu)	SCNN1B (P581L +1 more)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GPathogenic
Select item 1343467	NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	SCNN1B (H268R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 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 1304353	NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	SCNN1B (R410C)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GUncertain significance
Select item 1303165	NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	SCNN1B (E632K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1263004	NM_000336.3(SCNN1B):c.1152+43G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1256466	NM_000336.3(SCNN1B):c.1152+10T>C	SCNN1B	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive +5 more	GBenign/Likely benign
Select item 996084	NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	SCNN1B (V578M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 973855	NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val)	SCNN1B (D419V)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GUncertain significance
Select item 887970	NM_000336.3(SCNN1B):c.*446C>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +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)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 887721	NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 887720	NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +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)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 887661	NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	SCNN1B (R206Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +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)	Liddle syndrome 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 +3 more	GConflicting classifications of pathogenicity
Select item 886714	NM_000336.3(SCNN1B):c.*241G>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 886656	NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)	SCNN1B (T586I)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 885646	NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)	SCNN1B (V582E)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 885580	NM_000336.3(SCNN1B):c.1404+7C>T	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 885512	NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	SCNN1B (R410H)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 884762	NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)	SCNN1B (R597H)	Single nucleotide variant (missense variant)	Liddle syndrome 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)	Liddle syndrome 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)	Liddle syndrome 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)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 884580	NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser)	SCNN1B (N400S)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 884579	NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr)	SCNN1B (P357T)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 884508	NM_000336.3(SCNN1B):c.776+9C>A	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 789831	NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GBenign/Likely benign
Select item 740204	NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 727645	NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu)	SCNN1B (R397L)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GLikely benign
Select item 635564	NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser)	SCNN1B (N587S)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GUncertain significance
Select item 499404	NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)	SCNN1B (S635N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 497979	NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met)	SCNN1B (I301M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 318451	NM_000336.3(SCNN1B):c.*278C>T	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 318450	NM_000336.3(SCNN1B):c.*187G>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GUncertain significance
Select item 318449	NM_000336.3(SCNN1B):c.*94G>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 318448	NM_000336.3(SCNN1B):c.*20G>A	SCNN1B	Single nucleotide variant (3 prime UTR variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GLikely benign
Select item 318447	NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)	SCNN1B (D634H)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 318446	NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 318445	NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln)	SCNN1B (L628Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign/Likely benign
Select item 318444	NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318443	NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318442	NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 318441	NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 318440	NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His)	SCNN1B (R505H)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 318439	NM_000336.3(SCNN1B):c.1419C>T (p.His473=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 318438	NM_000336.3(SCNN1B):c.1404+15G>A	SCNN1B	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 318437	NM_000336.3(SCNN1B):c.1346+8C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318436	NM_000336.3(SCNN1B):c.1271-10T>C	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 318435	NM_000336.3(SCNN1B):c.1270+14C>T	SCNN1B	Single nucleotide variant (intron variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 318434	NM_000336.3(SCNN1B):c.1270+11G>T	SCNN1B	Single nucleotide variant (intron variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GConflicting classifications of pathogenicity
Select item 318433	NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GBenign/Likely benign
Select item 318432	NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys)	SCNN1B (R388C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 318425	NM_000336.3(SCNN1B):c.753C>T (p.Phe251=)	SCNN1B	Single nucleotide variant (synonymous variant)	Liddle syndrome 1 +2 more	GUncertain significance
Select item 318424	NM_000336.3(SCNN1B):c.586-15T>C	SCNN1B	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 318423	NM_000336.3(SCNN1B):c.561C>T (p.His187=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 318422	NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)	SCNN1B (R156W)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +3 more	GConflicting classifications of pathogenicity
Select item 318421	NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)	SCNN1B (S143F)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 318420	NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GBenign/Likely benign
Select item 318419	NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)	SCNN1B	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 318418	NM_000336.3(SCNN1B):c.159C>T (p.Phe53=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 318400	NM_000336.2(SCNN1B):c.-150C>G	SCNN1B	Single nucleotide variant (genic upstream transcript variant)	Liddle syndrome 1 +2 more	GLikely benign
Select item 318374	NM_001039.4(SCNN1G):c.789_790delinsCT	SCNN1G	Indel (3 prime UTR variant)	Liddle syndrome 1 +1 more	GUncertain significance
Select item 318369	NM_001039.4(SCNN1G):c.*597dup	SCNN1G	Duplication (3 prime UTR variant)	Liddle syndrome 1 +1 more	GLikely benign
Select item 255867	NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 255865	NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 229239	NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)	SCNN1B (A569V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 227060	NM_000336.3(SCNN1B):c.777-5T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 194168	NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GBenign/Likely benign
Select item 178804	NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val)	SCNN1B (G442V)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +4 more	GBenign
Select item 178803	NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178802	NM_000336.3(SCNN1B):c.879C>T (p.Phe293=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 165171	NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	SCNN1B (G589S)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +4 more	GBenign/Likely benign
Select item 165170	NM_000336.3(SCNN1B):c.1467-14G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 165169	NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=)	SCNN1B	Single nucleotide variant (synonymous variant)	Bronchiectasis with or without elevated sweat chloride 1 +4 more	GBenign/Likely benign
Select item 165167	NM_000336.3(SCNN1B):c.279T>C (p.Pro93=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 8844	NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	SCNN1B (S82C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 8838	NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)	SCNN1B (P267L)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GLikely pathogenic
Select item 8837	NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg)	SCNN1B (P616R)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GPathogenic
Select item 8836	NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser)	SCNN1B (P617S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8835	NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4)	SCNN1B (A579fs)	Deletion (frameshift variant)	Liddle syndrome 1	GPathogenic
Select item 8834	SCNN1B, 1-BP INS, 592C	SCNN1B	Insertion	Liddle syndrome 1	GPathogenic
Select item 8833	NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His)	SCNN1B (Y620H)	Single nucleotide variant (missense variant)	Liddle syndrome 1	GPathogenic
Select item 8832	NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)	SCNN1B (G37S)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 8831	NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu)	SCNN1B (P616L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8830	NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	SCNN1B (R566*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic

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Items: 94