ClinVar for Gene (Select 9563) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 253

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283387	NM_004285.4(H6PD):c.1741C>T (p.Arg581Cys)	H6PD (R592C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283386	NM_004285.4(H6PD):c.1691T>A (p.Ile564Asn)	H6PD (I564N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283385	NM_004285.4(H6PD):c.1410G>T (p.Lys470Asn)	H6PD (K481N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283384	NM_004285.4(H6PD):c.691C>T (p.Arg231Trp)	H6PD (R231W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283383	NM_004285.4(H6PD):c.1739G>A (p.Arg580Gln)	H6PD (R591Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283382	NM_004285.4(H6PD):c.460C>T (p.Arg154Cys)	H6PD (R165C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3104057	NM_004285.4(H6PD):c.935A>G (p.Gln312Arg)	H6PD (Q312R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104055	NM_004285.4(H6PD):c.715A>T (p.Ile239Phe)	H6PD (I250F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104054	NM_004285.4(H6PD):c.370A>G (p.Ile124Val)	H6PD (I124V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104053	NM_004285.4(H6PD):c.367G>T (p.Asp123Tyr)	H6PD (D123Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104052	NM_004285.4(H6PD):c.2210A>G (p.Asn737Ser)	H6PD (N748S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104051	NM_004285.4(H6PD):c.2149G>A (p.Val717Met)	H6PD (V728M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104050	NM_004285.4(H6PD):c.209C>T (p.Pro70Leu)	H6PD (P70L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104048	NM_004285.4(H6PD):c.2018A>G (p.Tyr673Cys)	H6PD (Y684C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104047	NM_004285.4(H6PD):c.1617G>A (p.Met539Ile)	H6PD (M550I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104046	NM_004285.4(H6PD):c.1559T>G (p.Leu520Trp)	H6PD (L520W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104045	NM_004285.4(H6PD):c.1396T>C (p.Phe466Leu)	H6PD (F477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104044	NM_004285.4(H6PD):c.1363C>T (p.Arg455Trp)	H6PD (R466W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104042	NM_004285.4(H6PD):c.1183C>T (p.Pro395Ser)	H6PD (P406S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104041	NM_004285.4(H6PD):c.1166C>T (p.Ala389Val)	H6PD (A389V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104040	NM_004285.4(H6PD):c.1123A>G (p.Asn375Asp)	H6PD (N386D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3050678	NM_004285.4(H6PD):c.1929C>T (p.His643=)	H6PD	Single nucleotide variant (synonymous variant)	H6PD-related disorder	GLikely benign
Select item 3033604	NM_004285.4(H6PD):c.1581G>A (p.Pro527=)	H6PD	Single nucleotide variant (synonymous variant)	H6PD-related disorder	GLikely benign
Select item 3022974	NM_004285.4(H6PD):c.745+19G>A	H6PD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022613	NM_004285.4(H6PD):c.2325G>A (p.Pro775=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022168	NM_004285.4(H6PD):c.628-6dup	H6PD	Duplication (intron variant)	not provided	GBenign
Select item 3020543	NM_004285.4(H6PD):c.652C>T (p.Arg218Ter)	H6PD (R218* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2985405	NM_004285.4(H6PD):c.1365G>A (p.Arg455=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889743	NM_004285.4(H6PD):c.1608G>A (p.Pro536=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889693	NM_004285.4(H6PD):c.1207G>A (p.Gly403Ser)	H6PD (G403S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812829	NM_004285.4(H6PD):c.1015+7C>T	H6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793500	NM_004285.4(H6PD):c.1320C>T (p.Gly440=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742032	NM_004285.4(H6PD):c.2331C>T (p.Ser777=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738371	NM_004285.4(H6PD):c.1552G>A (p.Gly518Ser)	H6PD (G529S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2714450	NM_004285.4(H6PD):c.902G>A (p.Arg301Gln)	H6PD (R312Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703952	NM_004285.4(H6PD):c.1555C>T (p.Arg519Trp)	H6PD (R530W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689194	NM_004285.4(H6PD):c.1514C>G (p.Ala505Gly)	H6PD (A505G +1 more)	Single nucleotide variant (missense variant)	Cortisone reductase deficiency 1	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2595397	NM_004285.4(H6PD):c.2255G>A (p.Arg752His)	H6PD (R763H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589500	NM_004285.4(H6PD):c.1865G>A (p.Arg622His)	H6PD (R622H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562406	NM_004285.4(H6PD):c.896C>T (p.Ala299Val)	H6PD (A299V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544647	NM_004285.4(H6PD):c.1012G>A (p.Ala338Thr)	H6PD (A338T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521468	NM_004285.4(H6PD):c.127T>C (p.Trp43Arg)	H6PD (W54R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517275	NM_004285.4(H6PD):c.1420A>G (p.Ile474Val)	H6PD (I485V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516394	NM_004285.4(H6PD):c.787G>A (p.Val263Ile)	H6PD (V263I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496455	NM_004285.4(H6PD):c.2224G>A (p.Val742Met)	H6PD (V742M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486407	NM_004285.4(H6PD):c.2161A>G (p.Ser721Gly)	H6PD (S732G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485746	NM_004285.4(H6PD):c.1528C>A (p.Leu510Met)	H6PD (L510M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485723	NM_004285.4(H6PD):c.928G>A (p.Val310Met)	H6PD (V310M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471572	NM_004285.4(H6PD):c.2262C>G (p.Ile754Met)	H6PD (I754M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467165	NM_004285.4(H6PD):c.1707T>A (p.Asn569Lys)	H6PD (N580K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465740	NM_004285.4(H6PD):c.1886C>T (p.Pro629Leu)	H6PD (P640L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463745	NM_004285.4(H6PD):c.1054G>A (p.Val352Met)	H6PD (V352M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2416557	NM_004285.4(H6PD):c.871C>T (p.Arg291Trp)	H6PD (R291W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415138	NM_004285.4(H6PD):c.1745_1766del (p.Phe582fs)	H6PD (F582fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2412332	NM_004285.4(H6PD):c.1018G>A (p.Val340Ile)	H6PD (V340I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408853	NM_004285.4(H6PD):c.2362G>A (p.Ala788Thr)	H6PD (A788T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404344	NM_004285.4(H6PD):c.1202A>G (p.His401Arg)	H6PD (H401R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396954	NM_004285.4(H6PD):c.1345T>C (p.Tyr449His)	H6PD (Y460H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395258	NM_004285.4(H6PD):c.913A>G (p.Arg305Gly)	H6PD (R305G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388997	NM_004285.4(H6PD):c.1405C>T (p.Arg469Trp)	H6PD (R480W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386948	NM_004285.4(H6PD):c.1249A>C (p.Asn417His)	H6PD (N417H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386946	NM_004285.4(H6PD):c.1248G>C (p.Arg416Ser)	H6PD (R427S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364870	NM_004285.4(H6PD):c.1748G>A (p.Gly583Asp)	H6PD (G594D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361435	NM_004285.4(H6PD):c.781C>T (p.Arg261Cys)	H6PD (R261C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350053	NM_004285.4(H6PD):c.31T>G (p.Leu11Val)	H6PD (L11V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2349213	NM_004285.4(H6PD):c.2008G>A (p.Ala670Thr)	H6PD (A670T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327021	NM_004285.4(H6PD):c.2126G>A (p.Gly709Asp)	H6PD (G720D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326170	NM_004285.4(H6PD):c.518A>G (p.Glu173Gly)	H6PD (E173G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310387	NM_004285.4(H6PD):c.1962G>T (p.Met654Ile)	H6PD (M654I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286175	NM_004285.4(H6PD):c.302A>C (p.Gln101Pro)	H6PD (Q101P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285441	NM_004285.4(H6PD):c.2038C>G (p.Leu680Val)	H6PD (L680V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284745	NM_004285.4(H6PD):c.2196C>G (p.Ser732Arg)	H6PD (S732R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270439	NM_004285.4(H6PD):c.1742G>A (p.Arg581His)	H6PD (R581H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248759	NM_004285.4(H6PD):c.2132A>G (p.Asp711Gly)	H6PD (D711G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234281	NM_004285.4(H6PD):c.718A>G (p.Ile240Val)	H6PD (I240V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225378	NM_004285.4(H6PD):c.316A>G (p.Ser106Gly)	H6PD (S106G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2209618	NM_004285.4(H6PD):c.2332G>A (p.Gly778Ser)	H6PD (G778S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209543	NM_004285.4(H6PD):c.1364G>A (p.Arg455Gln)	H6PD (R455Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2204859	NM_004285.4(H6PD):c.1714G>A (p.Glu572Lys)	H6PD (E583K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203977	NM_004285.4(H6PD):c.1105G>A (p.Ala369Thr)	H6PD (A380T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196979	NM_004285.4(H6PD):c.748C>T (p.Arg250Cys)	H6PD (R250C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183669	NM_004285.4(H6PD):c.1526G>A (p.Arg509His)	H6PD (R509H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2178225	NM_004285.4(H6PD):c.1551C>T (p.Ser517=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177024	NM_004285.4(H6PD):c.628-7C>T	H6PD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167410	NM_004285.4(H6PD):c.1730G>A (p.Arg577Gln)	H6PD (R588Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2157100	NM_004285.4(H6PD):c.1972C>A (p.Leu658Met)	H6PD (L669M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152753	NM_004285.4(H6PD):c.343G>A (p.Glu115Lys)	H6PD (E115K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147539	NM_004285.4(H6PD):c.749G>A (p.Arg250His)	H6PD (R250H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136736	NM_004285.4(H6PD):c.692G>A (p.Arg231Gln)	H6PD (R242Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2124426	NM_004285.4(H6PD):c.2066T>A (p.Val689Glu)	H6PD (V689E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083200	NM_004285.4(H6PD):c.786C>T (p.Asp262=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081148	NM_004285.4(H6PD):c.1641G>A (p.Arg547=)	H6PD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079445	NM_004285.4(H6PD):c.1001C>T (p.Thr334Met)	H6PD (T334M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3