ClinVar for MedGen (Select 357076) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240438	NM_017841.4(SDHAF2):c.406del (p.Val136fs)	SDHAF2 (V136fs)	Deletion (frameshift variant)	Paragangliomas 2	GLikely pathogenic
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 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 2574605	NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)	SDHAF2 (G78R)	Single nucleotide variant (missense variant)	Paragangliomas 2	Gnot provided
Select item 2431366	NM_017841.4(SDHAF2):c.479_482del (p.Tyr160fs)	SDHAF2 (Y160fs)	Deletion (frameshift variant)	Paragangliomas 2	GUncertain significance
Select item 1991504	NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1513788	NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)	SDHAF2 (R67G)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 1452374	NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	SDHAF2 (R77fs)	Microsatellite (frameshift variant)	Paragangliomas 2 +1 more	GPathogenic/Likely pathogenic
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 1451128	NM_017841.4(SDHAF2):c.267del (p.Phe89fs)	SDHAF2 (F89fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 1408455	NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)	SDHAF2 (K66E)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 1392150	NM_017841.4(SDHAF2):c.32C>G (p.Ser11Trp)	SDHAF2 (S11W)	Single nucleotide variant (missense variant)	Paragangliomas 2 +2 more	GUncertain significance
Select item 1375076	NM_017841.4(SDHAF2):c.382G>C (p.Ala128Pro)	SDHAF2 (A128P)	Single nucleotide variant (missense variant)	Paragangliomas 2 +2 more	GUncertain significance
Select item 1348817	NM_017841.4(SDHAF2):c.437A>G (p.Asn146Ser)	SDHAF2 (N146S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1056998	NM_017841.4(SDHAF2):c.451C>G (p.Gln151Glu)	SDHAF2 (Q151E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1045367	NM_017841.4(SDHAF2):c.370+3A>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 982784	NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)	SDHAF2 (A15fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 951169	NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)	SDHAF2 (R32S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823888	NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val)	SDHAF2 (I118V)	Single nucleotide variant (missense variant)	Paragangliomas 2 +2 more	GUncertain significance
Select item 823022	NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)	SDHAF2 (Y105*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
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 806678	NM_017841.4(SDHAF2):c.37-1G>C	SDHAF2	Single nucleotide variant (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GPathogenic/Likely pathogenic
Select item 700945	NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val)	SDHAF2 (A90V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GBenign/Likely benign
Select item 665703	NM_017841.4(SDHAF2):c.145_147del (p.Glu49del)	SDHAF2 (E49del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 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 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 639954	NM_017841.4(SDHAF2):c.370+4C>G	SDHAF2	Single nucleotide variant (intron variant)	Paragangliomas 2 +2 more	GUncertain significance
Select item 576139	NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile)	SDHAF2 (T65I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	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 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 532508	NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)	SDHAF2 (N103fs)	Insertion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 486408	NM_017841.4(SDHAF2):c.260+3A>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GConflicting classifications of pathogenicity
Select item 486407	NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)	SDHAF2 (M47V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 463832	NM_017841.4(SDHAF2):c.6G>A (p.Ala2=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
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 463825	NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)	SDHAF2 (S11L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 463824	NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)	SDHAF2 (R107H)	Single nucleotide variant (missense variant)	Paragangliomas 2 +3 more	GConflicting classifications of pathogenicity
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 463820	NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)	SDHAF2 (T9A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GConflicting classifications of pathogenicity
Select item 411611	NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)	SDHAF2 (E111K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 411604	NM_017841.4(SDHAF2):c.371-2A>G	SDHAF2	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 403423	NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)	SDHAF2 (Y119fs)	Duplication (frameshift variant)	Paragangliomas 2 +4 more	GConflicting classifications of pathogenicity
Select item 384524	NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)	SDHAF2 (W55*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +4 more	GConflicting classifications of pathogenicity
Select item 305091	NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)	SDHAF2 (N110K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 260942	NM_017841.4(SDHAF2):c.261-42G>A	SDHAF2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 241218	NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)	SDHAF2 (K164E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241217	NM_017841.4(SDHAF2):c.36+10G>A	SDHAF2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 241216	NM_017841.4(SDHAF2):c.239T>C (p.Leu80Ser)	SDHAF2 (L80S)	Single nucleotide variant (missense variant)	Paragangliomas 2 +3 more	GUncertain significance
Select item 234164	NM_017841.4(SDHAF2):c.359A>G (p.Tyr120Cys)	SDHAF2 (Y120C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 231193	NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)	SDHAF2 (R69H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 230189	NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)	SDHAF2 (R69C)	Single nucleotide variant (missense variant)	Paragangliomas 2 +3 more	GUncertain significance
Select item 187214	NM_017841.4(SDHAF2):c.286C>T (p.His96Tyr)	SDHAF2 (H96Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41836	NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)	SDHAF2 (R18G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 401	NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)	SDHAF2 (G78R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GPathogenic

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Items: 63