ClinVar for Gene (Select 6340) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362326	NM_001039.4(SCNN1G):c.1858C>G (p.Pro620Ala)	SCNN1G (P620A)	Single nucleotide variant (missense variant)	Liddle syndrome 2	GLikely pathogenic
Select item 3337563	NM_001039.4(SCNN1G):c.1811C>A (p.Thr604Asn)	SCNN1G (T604N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233621	NM_001039.4(SCNN1G):c.327C>T (p.Thr109=)	SCNN1G	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3158626	NM_001039.4(SCNN1G):c.457A>G (p.Arg153Gly)	SCNN1G (R153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158625	NM_001039.4(SCNN1G):c.332G>A (p.Arg111His)	SCNN1G (R111H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158624	NM_001039.4(SCNN1G):c.1738C>T (p.Pro580Ser)	SCNN1G (P580S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158623	NM_001039.4(SCNN1G):c.1714T>C (p.Trp572Arg)	SCNN1G (W572R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058747	NM_001039.4(SCNN1G):c.327C>A (p.Thr109=)	SCNN1G	Single nucleotide variant (synonymous variant)	SCNN1G-related disorder	GLikely benign
Select item 3047900	NM_001039.4(SCNN1G):c.945G>A (p.Glu315=)	SCNN1G	Single nucleotide variant (synonymous variant)	SCNN1G-related disorder	GLikely benign
Select item 3020872	NM_001039.4(SCNN1G):c.1869G>A (p.Pro623=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996459	NM_001039.4(SCNN1G):c.1635C>T (p.Cys545=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995858	NM_001039.4(SCNN1G):c.843G>C (p.Gly281=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994959	NM_001039.4(SCNN1G):c.1570-19G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986564	NM_001039.4(SCNN1G):c.45G>T (p.Leu15=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981487	NM_001039.4(SCNN1G):c.913+2_913+5dup	SCNN1G	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2978189	NM_001039.4(SCNN1G):c.1798G>A (p.Asp600Asn)	SCNN1G (D600N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972605	NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr)	SCNN1G (M299T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972461	NM_001039.4(SCNN1G):c.1239C>T (p.Ser413=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967028	NM_001039.4(SCNN1G):c.1493+15C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960053	NM_001039.4(SCNN1G):c.1570-6T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956870	NM_001039.4(SCNN1G):c.1078-17TGC[3]	SCNN1G	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2956243	NM_001039.4(SCNN1G):c.819G>A (p.Thr273=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956074	NM_001039.4(SCNN1G):c.914-18G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917000	NM_001039.4(SCNN1G):c.954C>T (p.Asn318=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2897266	NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys)	SCNN1G (R631C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895778	NM_001039.4(SCNN1G):c.899G>C (p.Gly300Ala)	SCNN1G (G300A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888928	NM_001039.4(SCNN1G):c.1244C>T (p.Pro415Leu)	SCNN1G (P415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887189	NM_001039.4(SCNN1G):c.1860C>T (p.Pro620=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883968	NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys)	SCNN1G (M517K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878213	NM_001039.4(SCNN1G):c.132C>G (p.Ile44Met)	SCNN1G (I44M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876074	NM_001039.4(SCNN1G):c.594C>T (p.Ser198=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858948	NM_001039.4(SCNN1G):c.994C>T (p.His332Tyr)	SCNN1G (H332Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779699	NM_001039.4(SCNN1G):c.1923A>G (p.Thr641=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769947	NM_001039.4(SCNN1G):c.1944G>C (p.Glu648Asp)	SCNN1G (E648D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752048	NM_001039.4(SCNN1G):c.913+1G>T	SCNN1G	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2732418	NM_001039.4(SCNN1G):c.410G>A (p.Arg137His)	SCNN1G (R137H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2731600	NM_001039.4(SCNN1G):c.551G>T (p.Gly184Val)	SCNN1G (G184V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722849	NM_001039.4(SCNN1G):c.988A>G (p.Ile330Val)	SCNN1G (I330V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683350	NM_001039.4(SCNN1G):c.1468C>T (p.Arg490Trp)	SCNN1G (R490W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646318	NM_001039.4(SCNN1G):c.1322C>A (p.Ala441Asp)	SCNN1G (A441D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633627	NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu)	SCNN1G (P625L)	Single nucleotide variant (missense variant)	SCNN1G-related disorder	GUncertain significance
Select item 2632715	NM_001039.4(SCNN1G):c.1431+1G>T	SCNN1G	Single nucleotide variant (splice donor variant)	SCNN1G-related disorder	GLikely pathogenic
Select item 2631991	NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr)	SCNN1G (H358Y)	Single nucleotide variant (missense variant)	SCNN1G-related disorder	GUncertain significance
Select item 2627338	NM_001039.4(SCNN1G):c.1295-13C>T	SCNN1G	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2610511	NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg)	SCNN1G (S377R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2556560	NM_001039.4(SCNN1G):c.1576A>T (p.Met526Leu)	SCNN1G (M526L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549831	NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser)	SCNN1G (T109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537471	NM_001039.4(SCNN1G):c.1420G>C (p.Val474Leu)	SCNN1G (V474L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531494	NM_001039.4(SCNN1G):c.1382A>T (p.Glu461Val)	SCNN1G (E461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514019	NM_001039.4(SCNN1G):c.1465G>C (p.Gly489Arg)	SCNN1G (G489R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457532	NM_001039.4(SCNN1G):c.1319G>A (p.Arg440Gln)	SCNN1G (R440Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2443466	NM_001039.4(SCNN1G):c.1720G>C (p.Ala574Pro)	SCNN1G (A574P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2443054	NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)	SCNN1G (I67M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 2435778	NM_001039.4(SCNN1G):c.1808C>G (p.Pro603Arg)	SCNN1G (P603R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435777	NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val)	SCNN1G (E361V)	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 2413679	NM_001039.4(SCNN1G):c.1741T>C (p.Cys581Arg)	SCNN1G (C581R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2410296	NM_001039.4(SCNN1G):c.1688G>A (p.Arg563His)	SCNN1G (R563H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408769	NM_001039.4(SCNN1G):c.332G>C (p.Arg111Pro)	SCNN1G (R111P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375071	NM_001039.4(SCNN1G):c.1555A>G (p.Ser519Gly)	SCNN1G (S519G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258765	NM_001039.4(SCNN1G):c.1811C>T (p.Thr604Ile)	SCNN1G (T604I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241988	NM_001039.4(SCNN1G):c.1027G>A (p.Val343Met)	SCNN1G (V343M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184220	NM_001039.4(SCNN1G):c.1868C>T (p.Pro623Leu)	SCNN1G (P623L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155209	NM_001039.4(SCNN1G):c.1122G>A (p.Glu374=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080345	NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe)	SCNN1G (S134F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2075492	NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro)	SCNN1G	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2074030	NM_001039.4(SCNN1G):c.436G>A (p.Val146Ile)	SCNN1G (V146I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068785	NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu)	SCNN1G (M279L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2028209	NM_001039.4(SCNN1G):c.1427C>G (p.Ser476Trp)	SCNN1G (S476W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990292	NM_001039.4(SCNN1G):c.317+18G>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962366	NM_001039.4(SCNN1G):c.619-20G>A	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961498	NM_001039.4(SCNN1G):c.1373+4T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1953797	NM_001039.4(SCNN1G):c.1431+14C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949290	NM_001039.4(SCNN1G):c.1018G>T (p.Val340Phe)	SCNN1G (V340F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947463	NM_001039.4(SCNN1G):c.1493+12C>G	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929122	NM_001039.4(SCNN1G):c.603G>T (p.Val201=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920583	NM_001039.4(SCNN1G):c.546C>T (p.Val182=)	SCNN1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1801809	NM_001039.4(SCNN1G):c.1691G>A (p.Arg564His)	SCNN1G (R564H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1699901	NM_001039.4(SCNN1G):c.-44-233_-44-231del	SCNN1G	Deletion (intron variant)	not provided	GLikely benign
Select item 1699900	NM_001039.4(SCNN1G):c.-44-244_-44-236del	SCNN1G	Deletion (intron variant)	not provided	GLikely benign
Select item 1685092	NM_001039.4(SCNN1G):c.1016T>G (p.Phe339Cys)	SCNN1G (F339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678660	NM_001039.4(SCNN1G):c.619-78G>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1677342	NM_001039.4(SCNN1G):c.*885G>A	SCNN1G	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1650245	NM_001039.4(SCNN1G):c.318-17C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331727	NM_001039.4(SCNN1G):c.564C>A (p.His188Gln)	SCNN1G (H188Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1326238	NC_000016.10:g.23217001C>T	SCNN1G	Single nucleotide variant	not provided	GLikely benign
Select item 1323567	NM_001039.4(SCNN1G):c.412C>T (p.Arg138Ter)	SCNN1G (R138*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1313539	NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	SCNN1G (R157Q)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism, type IB1, autosomal recessive +3 more	GUncertain significance
Select item 1304028	NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg)	SCNN1G (P625R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294522	NM_001039.4(SCNN1G):c.913+62G>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289716	NM_001039.4(SCNN1G):c.1176+69A>G	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286975	NM_001039.4(SCNN1G):c.317+264C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283927	NM_001039.4(SCNN1G):c.-44-247C>T	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282630	NM_001039.4(SCNN1G):c.1176+210T>C	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279162	NM_001039.4(SCNN1G):c.1294+252C>G	SCNN1G	Single nucleotide variant (intron variant)	not provided	GBenign

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