ClinVar for Gene (Select 54949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 3018641	NM_017841.4(SDHAF2):c.200G>T (p.Arg67Ile)	SDHAF2 (R67I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3017420	NM_017841.4(SDHAF2):c.51A>C (p.Ser17=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3010480	NM_017841.4(SDHAF2):c.370+11T>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2987205	NM_017841.4(SDHAF2):c.215A>T (p.Tyr72Phe)	SDHAF2 (Y72F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2976806	NM_017841.4(SDHAF2):c.17T>G (p.Val6Gly)	SDHAF2 (V6G)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2975054	NM_017841.4(SDHAF2):c.370+1G>A	SDHAF2	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2972578	NM_017841.4(SDHAF2):c.109G>A (p.Gly37Ser)	SDHAF2 (G37S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2967724	NM_017841.4(SDHAF2):c.501A>G (p.Ter167Trp)	SDHAF2	Single nucleotide variant (stop lost)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2961059	NM_017841.4(SDHAF2):c.260+7G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2918547	NM_017841.4(SDHAF2):c.36+7A>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2918500	NM_017841.4(SDHAF2):c.370+10A>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2915257	NM_017841.4(SDHAF2):c.250A>G (p.Ile84Val)	SDHAF2 (I84V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2914702	NM_017841.4(SDHAF2):c.471T>C (p.Asp157=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2912036	NM_017841.4(SDHAF2):c.366_370+9del	SDHAF2	Deletion (splice donor variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2910041	NM_017841.4(SDHAF2):c.37-113T>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2895321	NM_017841.4(SDHAF2):c.36+16G>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2892563	NM_017841.4(SDHAF2):c.300G>T (p.Lys100Asn)	SDHAF2 (K100N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2892270	NM_017841.4(SDHAF2):c.320G>T (p.Arg107Leu)	SDHAF2 (R107L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2877020	NM_017841.4(SDHAF2):c.260+11A>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2870974	NM_017841.4(SDHAF2):c.382G>A (p.Ala128Thr)	SDHAF2 (A128T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2841677	NM_017841.4(SDHAF2):c.265T>G (p.Phe89Val)	SDHAF2 (F89V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2834418	NM_017841.4(SDHAF2):c.396del (p.Phe132fs)	SDHAF2 (F132fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2832120	NM_017841.4(SDHAF2):c.37-12T>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2827090	NM_017841.4(SDHAF2):c.260+7G>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2822847	NM_017841.4(SDHAF2):c.26C>G (p.Thr9Ser)	SDHAF2 (T9S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2821830	NM_017841.4(SDHAF2):c.287A>C (p.His96Pro)	SDHAF2 (H96P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2818845	NM_017841.4(SDHAF2):c.4G>A (p.Ala2Thr)	SDHAF2 (A2T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2814416	NM_017841.4(SDHAF2):c.331G>C (p.Glu111Gln)	SDHAF2 (E111Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2812145	NM_017841.4(SDHAF2):c.20T>A (p.Phe7Tyr)	SDHAF2 (F7Y)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2804190	NM_017841.4(SDHAF2):c.131A>C (p.Gln44Pro)	SDHAF2 (Q44P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2803422	NM_017841.4(SDHAF2):c.36+10G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2784083	NM_017841.4(SDHAF2):c.59G>A (p.Ser20Asn)	SDHAF2 (S20N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2774506	NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)	SDHAF2 (S4fs)	Deletion (frameshift variant)	Paragangliomas 2	GLikely pathogenic
Select item 2766353	NM_017841.4(SDHAF2):c.260+15G>A	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2765268	NM_017841.4(SDHAF2):c.112G>A (p.Asp38Asn)	SDHAF2 (D38N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2760569	NM_017841.4(SDHAF2):c.62T>G (p.Leu21Arg)	SDHAF2 (L21R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2755713	NM_017841.4(SDHAF2):c.34C>G (p.Leu12Val)	SDHAF2 (L12V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2746114	NM_017841.4(SDHAF2):c.50C>T (p.Ser17Leu)	SDHAF2 (S17L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2744351	NM_017841.4(SDHAF2):c.138C>A (p.Asp46Glu)	SDHAF2 (D46E)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2738984	NM_017841.4(SDHAF2):c.37-20T>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2724402	NM_017841.4(SDHAF2):c.317A>G (p.Asp106Gly)	SDHAF2 (D106G)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2706576	NM_017841.4(SDHAF2):c.224G>A (p.Arg75Lys)	SDHAF2 (R75K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2706257	NM_017841.4(SDHAF2):c.326T>C (p.Ile109Thr)	SDHAF2 (I109T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2703657	NM_017841.4(SDHAF2):c.455G>C (p.Arg152Thr)	SDHAF2 (R152T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2698975	NM_017841.4(SDHAF2):c.261-1G>T	SDHAF2	Single nucleotide variant (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 2695708	NM_017841.4(SDHAF2):c.280C>G (p.Leu94Val)	SDHAF2 (L94V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2683284	NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs)	SDHAF2 (E99fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2682076	NM_017841.4(SDHAF2):c.36+2T>C	SDHAF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2682075	NM_017841.4(SDHAF2):c.261-10T>C	SDHAF2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2678640	NM_017841.4(SDHAF2):c.371-4G>C	SDHAF2	Single nucleotide variant (intron variant)	Paragangliomas 2	GUncertain significance
Select item 2678639	NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)	SDHAF2 (Q101*)	Single nucleotide variant (nonsense)	Paragangliomas 2	GLikely pathogenic
Select item 2678638	NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)	SDHAF2 (R58K)	Single nucleotide variant (missense variant)	Paragangliomas 2	GUncertain significance
Select item 2678637	NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)	SDHAF2 (M13I)	Single nucleotide variant (missense variant)	Paragangliomas 2	GUncertain significance
Select item 2678636	NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)	SDHAF2 (A2E)	Single nucleotide variant (missense variant)	Paragangliomas 2	GUncertain significance
Select item 2678635	NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)	SDHAF2 (P24L)	Single nucleotide variant (missense variant)	Paragangliomas 2	GUncertain significance
Select item 2641829	NM_017841.4(SDHAF2):c.37-793A>G	SDHAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2625584	NM_017841.4(SDHAF2):c.244A>G (p.Asn82Asp)	SDHAF2 (N82D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2625583	NM_017841.4(SDHAF2):c.210G>A (p.Leu70=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2625582	NM_017841.4(SDHAF2):c.129C>T (p.Ser43=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2625581	NM_017841.4(SDHAF2):c.233del (p.Gly78fs)	SDHAF2 (G78fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2625580	NM_017841.4(SDHAF2):c.316G>A (p.Asp106Asn)	SDHAF2 (D106N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625579	NM_017841.4(SDHAF2):c.260G>C (p.Ser87Thr)	SDHAF2 (S87T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625578	NM_017841.4(SDHAF2):c.20T>C (p.Phe7Ser)	SDHAF2 (F7S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2625577	NM_017841.4(SDHAF2):c.495A>C (p.Pro165=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2625576	NM_017841.4(SDHAF2):c.282G>A (p.Leu94=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2624885	NM_017841.4(SDHAF2):c.378A>G (p.Lys126=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 2624878	NM_017841.4(SDHAF2):c.247T>G (p.Cys83Gly)	SDHAF2 (C83G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2624866	NM_017841.4(SDHAF2):c.329A>G (p.Asn110Ser)	SDHAF2 (N110S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2624861	NM_017841.4(SDHAF2):c.128C>T (p.Ser43Phe)	SDHAF2 (S43F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 2574605	NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)	SDHAF2 (G78R)	Single nucleotide variant (missense variant)	Paragangliomas 2	Gnot provided
Select item 2563443	NM_017841.4(SDHAF2):c.366C>T (p.Ala122=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2563442	NM_017841.4(SDHAF2):c.500G>A (p.Ter167=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2563441	NM_017841.4(SDHAF2):c.75G>T (p.Leu25Phe)	SDHAF2 (L25F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2563440	NM_017841.4(SDHAF2):c.74T>C (p.Leu25Ser)	SDHAF2 (L25S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2563439	NM_017841.4(SDHAF2):c.139A>T (p.Met47Leu)	SDHAF2 (M47L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2563437	NM_017841.4(SDHAF2):c.243A>C (p.Glu81Asp)	SDHAF2 (E81D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2561636	NM_017841.4(SDHAF2):c.364G>T (p.Ala122Ser)	SDHAF2 (A122S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2560489	NM_017841.4(SDHAF2):c.-4G>A	SDHAF2	Single nucleotide variant (5 prime UTR variant)	SDHAF2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2502697	NM_017841.4(SDHAF2):c.475G>C (p.Glu159Gln)	SDHAF2 (E159Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497020	NM_017841.4(SDHAF2):c.66G>T (p.Leu22Phe)	SDHAF2 (L22F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2448523	NM_017841.4(SDHAF2):c.95G>A (p.Arg32Lys)	SDHAF2 (R32K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448522	NM_017841.4(SDHAF2):c.122C>A (p.Thr41Lys)	SDHAF2 (T41K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448521	NM_017841.4(SDHAF2):c.29C>G (p.Ser10Trp)	SDHAF2 (S10W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448520	NM_017841.4(SDHAF2):c.4G>T (p.Ala2Ser)	SDHAF2 (A2S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448519	NM_017841.4(SDHAF2):c.9G>T (p.Val3=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448518	NM_017841.4(SDHAF2):c.466C>G (p.Pro156Ala)	SDHAF2 (P156A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2448517	NM_017841.4(SDHAF2):c.408C>A (p.Val136=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2447495	NM_017841.4(SDHAF2):c.277C>T (p.His93Tyr)	SDHAF2 (H93Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2431366	NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)	SDHAF2 (Y160fs)	Deletion (frameshift variant)	Paragangliomas 2	GUncertain significance
Select item 2426363	NC_000011.9:g.(?_61197619)_(61552680_?)del	PPP1R32, SYT7 +4 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2423926	NC_000011.9:g.(?_61165722)_(61197674_?)dup	CPSF7, SDHAF2 +1 more	Duplication	Familial aplasia of the vermis	GUncertain significance
Select item 2420890	NM_017841.4(SDHAF2):c.69T>C (p.Ser23=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2414838	NM_017841.4(SDHAF2):c.435A>G (p.Lys145=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2197212	NM_017841.4(SDHAF2):c.36+12G>A	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2190614	NM_017841.4(SDHAF2):c.37-20T>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2184246	NM_017841.4(SDHAF2):c.497G>T (p.Arg166Leu)	SDHAF2 (R166L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance

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