"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 507982	NM_017841.4(SDHAF2):c.-11A>G	SDHAF2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 392110	NM_017841.4(SDHAF2):c.-1A>C	SDHAF2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 951579	NM_017841.4(SDHAF2):c.3G>A (p.Met1Ile)	SDHAF2 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2063977	NM_017841.4(SDHAF2):c.5C>T (p.Ala2Val)	SDHAF2 (A2V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 486411	NM_017841.4(SDHAF2):c.6G>T (p.Ala2=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 463832	NM_017841.4(SDHAF2):c.6G>A (p.Ala2=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GLikely benign
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 948473	NM_017841.4(SDHAF2):c.8T>C (p.Val3Ala)	SDHAF2 (V3A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 647376	NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)	SDHAF2 (S4C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 416796	NM_017841.4(SDHAF2):c.15A>G (p.Thr5=)	SDHAF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 416794	NM_017841.4(SDHAF2):c.21C>T (p.Phe7=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1372881	NM_017841.4(SDHAF2):c.23C>T (p.Ser8Leu)	SDHAF2 (S8L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 821217	NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter)	SDHAF2 (S8*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
Select item 1092465	NM_017841.4(SDHAF2):c.24G>T (p.Ser8=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 463820	NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)	SDHAF2 (T9A)	Single nucleotide variant (missense variant)	Paragangliomas 2 +2 more	GConflicting classifications of pathogenicity
Select item 1460834	NM_017841.4(SDHAF2):c.26C>T (p.Thr9Ile)	SDHAF2 (T9I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
Select item 1451844	NM_017841.4(SDHAF2):c.28del (p.Ser10fs)	SDHAF2 (S10fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 653000	NM_017841.4(SDHAF2):c.29C>T (p.Ser10Leu)	SDHAF2 (S10L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 806678	NM_017841.4(SDHAF2):c.37-1G>C	SDHAF2	Single nucleotide variant (splice acceptor variant)	Paragangliomas 2 +3 more	GPathogenic/Likely pathogenic
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 952850	NM_017841.4(SDHAF2):c.83T>G (p.Val28Gly)	SDHAF2 (V28G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 840116	NM_017841.4(SDHAF2):c.103T>C (p.Tyr35His)	SDHAF2 (Y35H)	Single nucleotide variant (missense variant)	not provided +2 more	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 2625582	NM_017841.4(SDHAF2):c.129C>T (p.Ser43=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 532510	NM_017841.4(SDHAF2):c.133A>G (p.Lys45Glu)	SDHAF2 (K45E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 653995	NM_017841.4(SDHAF2):c.136G>A (p.Asp46Asn)	SDHAF2 (D46N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 486407	NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)	SDHAF2 (M47V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 849710	NM_017841.4(SDHAF2):c.146A>G (p.Glu49Gly)	SDHAF2 (E49G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1019185	NM_017841.4(SDHAF2):c.151C>T (p.Pro51Ser)	SDHAF2 (P51S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 486414	NM_017841.4(SDHAF2):c.153T>G (p.Pro51=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1003627	NM_017841.4(SDHAF2):c.157C>A (p.Pro53Thr)	SDHAF2 (P53T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1776573	NM_017841.4(SDHAF2):c.161C>T (p.Pro54Leu)	SDHAF2 (P54L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3385978	NM_017841.4(SDHAF2):c.165dup (p.Gln56fs)	SDHAF2 (Q56fs)	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
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 384524	NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)	SDHAF2 (W55*)	Single nucleotide variant (nonsense)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3385979	NM_017841.4(SDHAF2):c.166C>T (p.Gln56Ter)	SDHAF2 (Q56*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 819996	NM_017841.4(SDHAF2):c.175A>G (p.Thr59Ala)	SDHAF2 (T59A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 2054679	NM_017841.4(SDHAF2):c.184T>G (p.Ser62Ala)	SDHAF2 (S62A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
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 576139	NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile)	SDHAF2 (T65I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1083101	NM_017841.4(SDHAF2):c.198A>G (p.Lys66=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 230189	NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)	SDHAF2 (R69C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	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 411602	NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)	SDHAF2 (S74N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 1452374	NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	SDHAF2 (R77fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 821071	NM_017841.4(SDHAF2):c.230G>C (p.Arg77Thr)	SDHAF2 (R77T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1135179	NM_017841.4(SDHAF2):c.234A>G (p.Gly78=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 821150	NM_017841.4(SDHAF2):c.235A>G (p.Met79Val)	SDHAF2 (M79V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 821240	NM_017841.4(SDHAF2):c.246C>G (p.Asn82Lys)	SDHAF2 (N82K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 463821	NM_017841.4(SDHAF2):c.260+1G>A	SDHAF2	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely pathogenic
Select item 486408	NM_017841.4(SDHAF2):c.260+3A>G	SDHAF2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3070654	NM_017841.4(SDHAF2):c.260+6G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074409	NM_017841.4(SDHAF2):c.261-12del	SDHAF2	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1581339	NM_017841.4(SDHAF2):c.261-8G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 934226	NM_017841.4(SDHAF2):c.265T>C (p.Phe89Leu)	SDHAF2 (F89L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 970122	NM_017841.4(SDHAF2):c.274G>A (p.Glu92Lys)	SDHAF2 (E92K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 821796	NM_017841.4(SDHAF2):c.277C>G (p.His93Asp)	SDHAF2 (H93D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 947339	NM_017841.4(SDHAF2):c.279T>G (p.His93Gln)	SDHAF2 (H93Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 463823	NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)	SDHAF2 (Y105N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 823022	NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)	SDHAF2 (Y105*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2624866	NM_017841.4(SDHAF2):c.329A>G (p.Asn110Ser)	SDHAF2 (N110S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 305091	NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)	SDHAF2 (N110K)	Single nucleotide variant (missense variant)	not provided +3 more	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 3385983	NM_017841.4(SDHAF2):c.337A>T (p.Ser113Cys)	SDHAF2 (S113C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 575138	NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)	SDHAF2 (N114S)	Single nucleotide variant (missense variant)	Ovarian cancer +3 more	GConflicting classifications of pathogenicity
Select item 230045	NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)	SDHAF2 (W116*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +2 more	GConflicting classifications of pathogenicity
Select item 1732027	NM_017841.4(SDHAF2):c.349G>A (p.Asp117Asn)	SDHAF2 (D117N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823888	NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)	SDHAF2 (I118V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 403423	NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)	SDHAF2 (Y119fs)	Duplication (frameshift variant)	Paragangliomas 2 +4 more	GConflicting classifications of pathogenicity
Select item 486412	NM_017841.4(SDHAF2):c.360C>T (p.Tyr120=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 403422	NM_017841.4(SDHAF2):c.363G>A (p.Trp121Ter)	SDHAF2 (W121*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +2 more	GConflicting classifications of pathogenicity
Select item 480796	NM_017841.4(SDHAF2):c.370G>A (p.Glu124Lys)	SDHAF2 (E124K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2139292	NM_017841.4(SDHAF2):c.371-9C>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GConflicting classifications of pathogenicity
Select item 486406	NM_017841.4(SDHAF2):c.371-4G>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1126964	NM_017841.4(SDHAF2):c.375T>C (p.Ala125=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1735583	NM_017841.4(SDHAF2):c.385C>G (p.Pro129Ala)	SDHAF2 (P129A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 532517	NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)	SDHAF2 (I131L)	Single nucleotide variant (missense variant)	Paragangliomas 2 +2 more	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 651738	NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)	SDHAF2 (M137K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 665013	NM_017841.4(SDHAF2):c.427T>A (p.Phe143Ile)	SDHAF2 (F143I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 403424	NM_017841.4(SDHAF2):c.446_447del (p.Lys149fs)	SDHAF2 (K149fs)	Deletion (frameshift variant)	not provided +3 more	GUncertain significance
Select item 1017284	NM_017841.4(SDHAF2):c.448G>A (p.Glu150Lys)	SDHAF2 (E150K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 664345	NM_017841.4(SDHAF2):c.449A>G (p.Glu150Gly)	SDHAF2 (E150G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1415598	NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)	SDHAF2 (R152G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 411608	NM_017841.4(SDHAF2):c.460C>T (p.Arg154Cys)	SDHAF2 (R154C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 463828	NM_017841.4(SDHAF2):c.464C>T (p.Ala155Val)	SDHAF2 (A155V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 411605	NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)	SDHAF2 (E159A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 1743247	NM_017841.4(SDHAF2):c.480C>A (p.Tyr160Ter)	SDHAF2 (Y160*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 241218	NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)	SDHAF2 (K164E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 463830	NM_017841.4(SDHAF2):c.496C>T (p.Arg166Cys)	SDHAF2 (R166C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 463831	NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)	SDHAF2 (R166H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GConflicting classifications of pathogenicity
Select item 3074203	NM_017841.4(SDHAF2):c.*3T>A	SDHAF2	Single nucleotide variant (3 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance

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Items: 96