9333[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 887460	NM_201631.4(TGM5):c.*510A>G	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316034	NM_201631.4(TGM5):c.*430C>T	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316035	NM_201631.4(TGM5):c.*252C>T	TGM5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 316036	NM_201631.4(TGM5):c.*56T>C	TGM5	Single nucleotide variant (3 prime UTR variant)	Acral peeling skin syndrome	GUncertain significance
Select item 3065974	NM_201631.4(TGM5):c.2161T>C (p.Ter721Gln)	TGM5	Single nucleotide variant (stop lost)	Acral peeling skin syndrome	GLikely pathogenic
Select item 3176758	NM_201631.4(TGM5):c.2129G>A (p.Gly710Asp)	TGM5 (G628D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176757	NM_201631.4(TGM5):c.2038G>A (p.Ala680Thr)	TGM5 (A598T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354200	NM_201631.4(TGM5):c.2010C>A (p.Phe670Leu)	TGM5 (F588L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2662491	NM_201631.4(TGM5):c.2009+1G>A	TGM5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 777456	NM_201631.4(TGM5):c.1986C>T (p.Leu662=)	TGM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3348813	NM_201631.4(TGM5):c.1981_1982insCT (p.Gly661fs)	TGM5 (G579fs +1 more)	Insertion (frameshift variant)	TGM5-related disorder	GUncertain significance
Select item 887461	NM_201631.4(TGM5):c.1970T>C (p.Val657Ala)	TGM5 (V575A +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 2557350	NM_201631.4(TGM5):c.1956C>A (p.Asp652Glu)	TGM5 (D652E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 887462	NM_201631.4(TGM5):c.1941G>A (p.Ser647=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2299806	NM_201631.4(TGM5):c.1940C>T (p.Ser647Leu)	TGM5 (S565L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176756	NM_201631.4(TGM5):c.1922T>C (p.Ile641Thr)	TGM5 (I559T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216139	NM_201631.4(TGM5):c.1891G>A (p.Val631Ile)	TGM5 (V549I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 887463	NM_201631.4(TGM5):c.1891G>C (p.Val631Leu)	TGM5 (V549L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887642	NM_201631.4(TGM5):c.1868C>T (p.Thr623Met)	TGM5 (T541M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 316037	NM_201631.4(TGM5):c.1822A>G (p.Lys608Glu)	TGM5 (K608E +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 316038	NM_201631.4(TGM5):c.1820A>C (p.Glu607Ala)	TGM5 (E607A +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign/Likely benign
Select item 2612401	NM_201631.4(TGM5):c.1819G>A (p.Glu607Lys)	TGM5 (E525K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 157571	NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs)	TGM5 (S604fs +1 more)	Indel (frameshift variant)	Acral peeling skin syndrome	GPathogenic
Select item 316039	NM_201631.4(TGM5):c.1773C>T (p.Asp591=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GBenign/Likely benign
Select item 887643	NM_201631.4(TGM5):c.1750T>C (p.Tyr584His)	TGM5 (Y584H +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 887644	NM_201631.4(TGM5):c.1716A>G (p.Ala572=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 1265065	NM_201631.4(TGM5):c.1715-109T>C	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 887645	NM_201631.4(TGM5):c.1714+14C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2401381	NM_201631.4(TGM5):c.1692C>A (p.Phe564Leu)	TGM5 (F564L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316040	NM_201631.4(TGM5):c.1689G>A (p.Ala563=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2482438	NM_201631.4(TGM5):c.1684A>G (p.Thr562Ala)	TGM5 (T562A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485374	NM_201631.4(TGM5):c.1670C>T (p.Pro557Leu)	TGM5 (P557L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349461	NM_201631.4(TGM5):c.1664T>C (p.Leu555Pro)	TGM5 (L473P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787426	NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg)	TGM5 (S462R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3176754	NM_201631.4(TGM5):c.1626C>A (p.Asn542Lys)	TGM5 (N460K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460455	NM_201631.4(TGM5):c.1605G>C (p.Gln535His)	TGM5 (Q453H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316041	NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg)	TGM5 (Q521R +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 3176753	NM_201631.4(TGM5):c.1553A>G (p.Asn518Ser)	TGM5 (N436S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884497	NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp)	TGM5 (N436D +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2437072	NM_201631.4(TGM5):c.1518A>T (p.Gln506His)	TGM5 (Q424H +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316042	NM_201631.4(TGM5):c.1510G>A (p.Val504Met)	TGM5 (V504M +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 2234710	NM_201631.4(TGM5):c.1506T>A (p.Ser502Arg)	TGM5 (S502R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316043	NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter)	TGM5 (R500* +1 more)	Single nucleotide variant (nonsense)	Acral peeling skin syndrome	GUncertain significance
Select item 2456924	NM_201631.4(TGM5):c.1475G>A (p.Arg492Gln)	TGM5 (R410Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316044	NM_201631.4(TGM5):c.1471C>T (p.Pro491Ser)	TGM5 (P491S +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2358502	NM_201631.4(TGM5):c.1419A>C (p.Gln473His)	TGM5 (Q473H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2492100	NM_201631.4(TGM5):c.1355A>T (p.Gln452Leu)	TGM5 (Q370L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 157567	NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	TGM5 (K445N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316045	NM_201631.4(TGM5):c.1309C>T (p.Arg437Trp)	TGM5 (R437W +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GBenign
Select item 450467	NM_201631.4(TGM5):c.1304del (p.Asp435fs)	TGM5 (D435fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2609779	NM_201631.4(TGM5):c.1286C>A (p.Thr429Lys)	TGM5 (T347K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350456	NM_201631.4(TGM5):c.1268T>C (p.Val423Ala)	TGM5 (V341A +1 more)	Single nucleotide variant (missense variant)	TGM5-related disorder	GUncertain significance
Select item 316046	NM_201631.4(TGM5):c.1252C>A (p.Gln418Lys)	TGM5 (Q418K +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 884498	NM_201631.4(TGM5):c.1239G>A (p.Glu413=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316047	NM_201631.4(TGM5):c.1209C>T (p.Cys403=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 777457	NM_201631.4(TGM5):c.1197G>A (p.Val399=)	TGM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1700720	NM_201631.4(TGM5):c.1190C>G (p.Ser397Trp)	TGM5 (S315W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3176752	NM_201631.4(TGM5):c.1177C>G (p.Pro393Ala)	TGM5 (P311A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2072862	NM_201631.4(TGM5):c.1175C>T (p.Thr392Met)	TGM5 (T310M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2242813	NM_201631.4(TGM5):c.1145A>G (p.Lys382Arg)	TGM5 (K300R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2645268	NM_201631.4(TGM5):c.1108G>A (p.Val370Ile)	TGM5 (V288I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 316048	NM_201631.4(TGM5):c.1106-7C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 885432	NM_201631.4(TGM5):c.1106-9C>G	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316049	NM_201631.4(TGM5):c.1104C>T (p.Asn368=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2217059	NM_201631.4(TGM5):c.1098G>A (p.Met366Ile)	TGM5 (M366I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 885433	NM_201631.4(TGM5):c.1080C>T (p.Asp360=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316050	NM_201631.4(TGM5):c.1055C>G (p.Ala352Gly)	TGM5 (A352G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 430084	NM_201631.4(TGM5):c.1036C>T (p.Arg346Trp)	TGM5 (R346W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255011	NM_201631.4(TGM5):c.1020T>A (p.Asn340Lys)	TGM5 (N258K +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 1200686	NM_201631.4(TGM5):c.1016G>A (p.Trp339Ter)	TGM5 (W257* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1175516	NM_201631.4(TGM5):c.1002-164A>G	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287527	NM_201631.4(TGM5):c.1001+51C>A	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420028	NM_201631.4(TGM5):c.1001+2_1001+3del	TGM5	Deletion (splice donor variant)	not provided	GPathogenic
Select item 316051	NM_201631.4(TGM5):c.989A>T (p.Lys330Met)	TGM5 (K330M +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome +1 more	GLikely benign
Select item 316052	NM_201631.4(TGM5):c.960C>T (p.Asn320=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome +1 more	GBenign
Select item 452022	NM_201631.4(TGM5):c.946G>A (p.Glu316Lys)	TGM5 (E316K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2293081	NM_201631.4(TGM5):c.929G>A (p.Gly310Glu)	TGM5 (G228E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373486	NM_201631.4(TGM5):c.919G>A (p.Asp307Asn)	TGM5 (D307N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 316053	NM_201631.4(TGM5):c.918C>T (p.His306=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2524826	NM_201631.4(TGM5):c.907G>A (p.Asp303Asn)	TGM5 (D221N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316054	NM_201631.4(TGM5):c.897C>G (p.Ile299Met)	TGM5 (I299M +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316055	NM_201631.4(TGM5):c.863-9T>C	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 886451	NM_201631.4(TGM5):c.863-12C>T	TGM5	Single nucleotide variant (intron variant)	Acral peeling skin syndrome	GUncertain significance
Select item 1242785	NM_201631.4(TGM5):c.862+24A>G	TGM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363823	NM_201631.4(TGM5):c.856T>C (p.Cys286Arg)	TGM5 (C204R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2369384	NM_201631.4(TGM5):c.854T>C (p.Met285Thr)	TGM5 (M285T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886452	NM_201631.4(TGM5):c.850G>A (p.Val284Ile)	TGM5 (V202I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 717493	NM_201631.4(TGM5):c.843T>C (p.Phe281=)	TGM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 886453	NM_201631.4(TGM5):c.834C>T (p.Cys278=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 1325191	NM_201631.4(TGM5):c.829C>T (p.Gln277Ter)	TGM5 (Q195* +1 more)	Single nucleotide variant (nonsense)	Acral peeling skin syndrome	GLikely pathogenic
Select item 3053070	NM_201631.4(TGM5):c.825C>T (p.Tyr275=)	TGM5	Single nucleotide variant (synonymous variant)	TGM5-related disorder	GLikely benign
Select item 316056	NM_201631.4(TGM5):c.821G>A (p.Arg274His)	TGM5 (R274H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886454	NM_201631.4(TGM5):c.820C>A (p.Arg274Ser)	TGM5 (R192S +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 3353197	NM_201631.4(TGM5):c.817G>A (p.Val273Met)	TGM5 (V191M +1 more)	Single nucleotide variant (missense variant)	TGM5-related disorder	GUncertain significance
Select item 886455	NM_201631.4(TGM5):c.810C>T (p.Cys270=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 2692374	NM_201631.4(TGM5):c.774C>G (p.Ser258Arg)	TGM5 (S176R +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GUncertain significance
Select item 316057	NM_201631.4(TGM5):c.768G>A (p.Thr256=)	TGM5	Single nucleotide variant (synonymous variant)	Acral peeling skin syndrome	GUncertain significance
Select item 157568	NM_201631.4(TGM5):c.763T>C (p.Trp255Arg)	TGM5 (W255R +1 more)	Single nucleotide variant (missense variant)	Acral peeling skin syndrome	GPathogenic

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