ClinVar for Gene (Select 6338) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380378	NM_000336.3(SCNN1B):c.1032C>T (p.Ile344=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3378307	NM_000336.3(SCNN1B):c.241G>A (p.Val81Ile)	SCNN1B (V81I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375318	NM_000336.3(SCNN1B):c.1752C>T (p.Ala584=)	SCNN1B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3371708	NM_000336.3(SCNN1B):c.1849C>G (p.Pro617Ala)	SCNN1B (P581A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345984	NM_000336.3(SCNN1B):c.567del (p.Gly188_Cys189insTer)	SCNN1B	Deletion (nonsense)	SCNN1B-related disorder	GLikely pathogenic
Select item 3339025	NM_000336.3(SCNN1B):c.880+16T>C	SCNN1B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338256	NM_000336.3(SCNN1B):c.1404+1G>T	SCNN1B	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 3316646	NM_000336.3(SCNN1B):c.439C>A (p.His147Asn)	SCNN1B (H147N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316645	NM_000336.3(SCNN1B):c.624C>A (p.Phe208Leu)	SCNN1B (F208L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316644	NM_000336.3(SCNN1B):c.1036G>A (p.Val346Ile)	SCNN1B (V346I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316643	NM_000336.3(SCNN1B):c.606G>T (p.Gln202His)	SCNN1B (Q202H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316642	NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile)	SCNN1B (M162I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233816	NM_000336.3(SCNN1B):c.804C>G (p.His268Gln)	SCNN1B (H268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158598	NM_000336.3(SCNN1B):c.922C>G (p.Pro308Ala)	SCNN1B (P308A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158597	NM_000336.3(SCNN1B):c.836T>C (p.Met279Thr)	SCNN1B (M279T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158596	NM_000336.3(SCNN1B):c.299C>A (p.Ala100Asp)	SCNN1B (A100D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158595	NM_000336.3(SCNN1B):c.1723C>T (p.Pro575Ser)	SCNN1B (P575S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158594	NM_000336.3(SCNN1B):c.1136C>T (p.Thr379Met)	SCNN1B (T379M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3063440	GRCh37/hg19 16p12.2(chr16:23261791-23326708)x3	SCNN1B	Copy number gain	not specified	GUncertain significance
Select item 3061303	NM_000336.3(SCNN1B):c.720C>A (p.Tyr240Ter)	SCNN1B (Y240*)	Single nucleotide variant (nonsense)	SCNN1B-related disorder	GLikely pathogenic
Select item 3047963	NM_000336.3(SCNN1B):c.1725G>A (p.Pro575=)	SCNN1B	Single nucleotide variant (synonymous variant)	SCNN1B-related disorder	GLikely benign
Select item 3046199	NM_000336.3(SCNN1B):c.1275T>C (p.His425=)	SCNN1B	Single nucleotide variant (synonymous variant)	SCNN1B-related disorder	GLikely benign
Select item 3041107	NM_000336.3(SCNN1B):c.1044+8C>T	SCNN1B	Single nucleotide variant (intron variant)	SCNN1B-related disorder	GLikely benign
Select item 3029622	NM_000336.3(SCNN1B):c.1825G>T (p.Ala609Ser)	SCNN1B (A573S +1 more)	Single nucleotide variant (missense variant)	SCNN1B-related disorder	GUncertain significance
Select item 3026344	NM_000336.3(SCNN1B):c.1535C>T (p.Ala512Val)	SCNN1B (A476V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025040	NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile)	SCNN1B (M51I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3023410	NM_000336.3(SCNN1B):c.880+18G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022839	NM_000336.3(SCNN1B):c.1466+18C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017790	NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys)	SCNN1B (E571K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013182	NM_000336.3(SCNN1B):c.537A>C (p.Ala179=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013072	NM_000336.3(SCNN1B):c.1050G>A (p.Lys350=)	SCNN1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005901	NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp)	SCNN1B (R563W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990147	NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala)	SCNN1B (P575A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977285	NM_000336.3(SCNN1B):c.1881G>A (p.Pro627=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976537	NM_000336.3(SCNN1B):c.311+13G>A	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962063	NM_000336.3(SCNN1B):c.1636G>A (p.Asp546Asn)	SCNN1B (D510N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960397	NM_000336.3(SCNN1B):c.1228C>G (p.Arg410Gly)	SCNN1B (R374G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958174	NM_000336.3(SCNN1B):c.1542+17C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958139	NM_000336.3(SCNN1B):c.846G>A (p.Lys282=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919817	NM_000336.3(SCNN1B):c.786G>A (p.Thr262=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899680	NM_000336.3(SCNN1B):c.919G>A (p.Val307Ile)	SCNN1B (V307I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841613	NM_000336.3(SCNN1B):c.1701C>T (p.Ala567=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836738	NM_000336.3(SCNN1B):c.1374C>T (p.Ser458=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786940	NM_000336.3(SCNN1B):c.270G>A (p.Met90Ile)	SCNN1B (M90I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764633	NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722826	NM_000336.3(SCNN1B):c.1253G>A (p.Arg418Gln)	SCNN1B (R418Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722278	NM_000336.3(SCNN1B):c.1014G>A (p.Ser338=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722114	NM_000336.3(SCNN1B):c.1479C>G (p.Val493=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720278	NM_000336.3(SCNN1B):c.738C>T (p.Ile246=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718668	NM_000336.3(SCNN1B):c.1724C>T (p.Pro575Leu)	SCNN1B (P539L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716725	NM_000336.3(SCNN1B):c.54C>T (p.Pro18=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713037	NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys)	SCNN1B (R588C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712730	NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu)	SCNN1B (S286L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701628	NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met)	SCNN1B (V512M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697478	NM_000336.3(SCNN1B):c.363T>G (p.Ala121=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689929	NM_000336.3(SCNN1B):c.1270+6C>T	SCNN1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684390	NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His)	SCNN1B (R352H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664489	NM_000336.3(SCNN1B):c.1346+1G>A	SCNN1B	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664488	NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)	SCNN1B (Y29*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664487	NM_000336.3(SCNN1B):c.1271-1G>C	SCNN1B	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2646320	NM_000336.3(SCNN1B):c.1335G>A (p.Lys445=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646319	NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg)	SCNN1B (G315R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637768	NM_000336.3(SCNN1B):c.1270+17G>A	SCNN1B	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2633063	NM_000336.3(SCNN1B):c.1174C>T (p.Gln392Ter)	SCNN1B (Q356* +1 more)	Single nucleotide variant (nonsense)	SCNN1B-related disorder	GLikely pathogenic
Select item 2629072	NM_000336.3(SCNN1B):c.776+5G>A	SCNN1B	Single nucleotide variant (intron variant)	SCNN1B-related disorder	GUncertain significance
Select item 2616322	NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn)	SCNN1B (K409N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2577438	NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)	SCNN1B (W28*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2575223	NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr)	SCNN1B (M407T +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1 +2 more	GUncertain significance
Select item 2573782	NM_000336.3(SCNN1B):c.585+3A>C	SCNN1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2569839	NM_000336.3(SCNN1B):c.699G>C (p.Gln233His)	SCNN1B (Q233H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2559037	NM_000336.3(SCNN1B):c.367C>A (p.Leu123Met)	SCNN1B (L123M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522606	NM_000336.3(SCNN1B):c.754G>A (p.Gly252Arg)	SCNN1B (G252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503104	NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile)	SCNN1B (M407I +1 more)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GUncertain significance
Select item 2496210	NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile)	SCNN1B (N185I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492141	NM_000336.3(SCNN1B):c.1130A>T (p.Tyr377Phe)	SCNN1B (Y377F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489288	NM_000336.3(SCNN1B):c.471C>A (p.Asn157Lys)	SCNN1B (N157K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485194	NM_000336.3(SCNN1B):c.1769T>C (p.Phe590Ser)	SCNN1B (F590S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484916	NM_000336.3(SCNN1B):c.1495T>G (p.Phe499Val)	SCNN1B (F463V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2472463	NM_000336.3(SCNN1B):c.1474A>G (p.Ile492Val)	SCNN1B (I456V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2445694	NM_000336.3(SCNN1B):c.1859A>G (p.Tyr620Cys)	SCNN1B (Y584C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443042	NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)	SCNN1B (E124D)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 1	GUncertain significance
Select item 2435776	NM_000336.3(SCNN1B):c.1108G>A (p.Val370Ile)	SCNN1B (V370I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427432	NC_000016.9:g.(?_23193865)_(23652612_?)del	COG7, EARS2 +6 more	Deletion	COG7 congenital disorder of glycosylation	GUncertain significance
Select item 2417977	NM_000336.3(SCNN1B):c.1693C>T (p.Arg565Trp)	SCNN1B (R529W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416759	NM_000336.3(SCNN1B):c.219C>A (p.Thr73=)	SCNN1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413023	NM_000336.3(SCNN1B):c.1340C>G (p.Ser447Cys)	SCNN1B (S411C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404764	NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys)	SCNN1B (R437K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2387624	NM_000336.3(SCNN1B):c.1420G>A (p.Val474Ile)	SCNN1B (V474I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365902	NM_000336.3(SCNN1B):c.518G>T (p.Gly173Val)	SCNN1B (G173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362982	NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro)	SCNN1B (Q568P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354048	NM_000336.3(SCNN1B):c.7G>A (p.Val3Met)	SCNN1B (V3M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2324858	NM_000336.3(SCNN1B):c.1190G>A (p.Arg397His)	SCNN1B (R397H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2321462	NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg)	SCNN1B (G188R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319223	NM_000336.3(SCNN1B):c.511C>T (p.His171Tyr)	SCNN1B (H171Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2285337	NM_000336.3(SCNN1B):c.409A>C (p.Thr137Pro)	SCNN1B (T137P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263927	NM_000336.3(SCNN1B):c.979C>G (p.Pro327Ala)	SCNN1B (P327A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242386	NM_000336.3(SCNN1B):c.1648A>T (p.Ile550Phe)	SCNN1B (I514F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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