ClinVar for Gene (Select 54949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385983	NM_017841.4(SDHAF2):c.337A>T (p.Ser113Cys)	SDHAF2 (S113C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385982	NM_017841.4(SDHAF2):c.335C>T (p.Pro112Leu)	SDHAF2 (P112L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385981	NM_017841.4(SDHAF2):c.302A>G (p.Gln101Arg)	SDHAF2 (Q101R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385980	NM_017841.4(SDHAF2):c.187A>T (p.Ile63Leu)	SDHAF2 (I63L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3385979	NM_017841.4(SDHAF2):c.166C>T (p.Gln56Ter)	SDHAF2 (Q56*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3385978	NM_017841.4(SDHAF2):c.165dup (p.Gln56fs)	SDHAF2 (Q56fs)	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3316874	NM_017841.4(SDHAF2):c.143T>G (p.Ile48Ser)	SDHAF2 (I48S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316873	NM_017841.4(SDHAF2):c.110G>A (p.Gly37Asp)	SDHAF2 (G37D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316871	NM_017841.4(SDHAF2):c.385C>A (p.Pro129Thr)	SDHAF2 (P129T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316870	NM_017841.4(SDHAF2):c.1A>G (p.Met1Val)	SDHAF2 (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316869	NM_017841.4(SDHAF2):c.184T>A (p.Ser62Thr)	SDHAF2 (S62T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316868	NM_017841.4(SDHAF2):c.250A>C (p.Ile84Leu)	SDHAF2 (I84L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3251123	NM_017841.4(SDHAF2):c.348G>A (p.Trp116Ter)	SDHAF2 (W116*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3244606	NC_000011.9:g.(?_61213393)_(61213543_?)dup	SDHAF2	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3244605	NC_000011.9:g.(?_61213403)_(61213543_?)del	SDHAF2	Deletion	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3240438	NM_017841.4(SDHAF2):c.406del (p.Val136fs)	SDHAF2 (V136fs)	Deletion (frameshift variant)	Paragangliomas 2	GLikely pathogenic
Select item 3227062	NM_017841.4(SDHAF2):c.76C>T (p.Leu26Phe)	SDHAF2 (L26F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227061	NM_017841.4(SDHAF2):c.70C>T (p.Pro24Ser)	SDHAF2 (P24S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227060	NM_017841.4(SDHAF2):c.58A>C (p.Ser20Arg)	SDHAF2 (S20R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227059	NM_017841.4(SDHAF2):c.493C>T (p.Pro165Ser)	SDHAF2 (P165S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227057	NM_017841.4(SDHAF2):c.398A>G (p.Glu133Gly)	SDHAF2 (E133G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227056	NM_017841.4(SDHAF2):c.378A>T (p.Lys126Asn)	SDHAF2 (K126N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227055	NM_017841.4(SDHAF2):c.331G>T (p.Glu111Ter)	SDHAF2 (E111*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227054	NM_017841.4(SDHAF2):c.317A>T (p.Asp106Val)	SDHAF2 (D106V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227053	NM_017841.4(SDHAF2):c.313dup (p.Tyr105fs)	SDHAF2 (Y105fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227052	NM_017841.4(SDHAF2):c.307A>T (p.Asn103Tyr)	SDHAF2 (N103Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227051	NM_017841.4(SDHAF2):c.219G>C (p.Glu73Asp)	SDHAF2 (E73D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227050	NM_017841.4(SDHAF2):c.211_242del (p.Leu71fs)	SDHAF2 (L71fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227049	NM_017841.4(SDHAF2):c.177T>A (p.Thr59=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227048	NM_017841.4(SDHAF2):c.105C>T (p.Tyr35=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3074409	NM_017841.4(SDHAF2):c.261-12del	SDHAF2	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074203	NM_017841.4(SDHAF2):c.*3T>A	SDHAF2	Single nucleotide variant (3 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074014	NM_017841.4(SDHAF2):c.206G>C (p.Arg69Pro)	SDHAF2 (R69P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073999	NM_017841.4(SDHAF2):c.112G>C (p.Asp38His)	SDHAF2 (D38H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072359	NM_017841.4(SDHAF2):c.152C>G (p.Pro51Arg)	SDHAF2 (P51R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071512	NM_017841.4(SDHAF2):c.407T>C (p.Val136Ala)	SDHAF2 (V136A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071152	NM_017841.4(SDHAF2):c.267T>C (p.Phe89=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3071143	NM_017841.4(SDHAF2):c.163T>C (p.Trp55Arg)	SDHAF2 (W55R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070907	NM_017841.4(SDHAF2):c.18G>T (p.Val6=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070654	NM_017841.4(SDHAF2):c.260+6G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
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 cancer-predisposing syndrome +1 more	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 cancer-predisposing syndrome +1 more	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 +1 more	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 cancer-predisposing syndrome +1 more	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)	Hereditary cancer-predisposing syndrome +2 more	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	FOLR2, RAB3IL1 +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 +1 more	GUncertain significance
Select item 2678636	NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)	SDHAF2 (A2E)	Single nucleotide variant (missense variant)	Paragangliomas 2 +1 more	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 pheochromocytoma-paraganglioma +1 more	GUncertain significance

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