54949[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign
Select item 1266254	NC_000011.10:g.61429996del	SDHAF2	Deletion	not provided	GBenign
Select item 513739	NM_017841.2(SDHAF2):c.-50G>T	SDHAF2	Single nucleotide variant	not specified	GLikely benign
Select item 878987	NM_017841.2(SDHAF2):c.-29G>A	SDHAF2	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
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 1751001	NM_017841.4(SDHAF2):c.-5G>A	SDHAF2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 826121	NM_017841.4(SDHAF2):c.-5G>T	SDHAF2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2560489	NM_017841.4(SDHAF2):c.-4G>A	SDHAF2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 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 411609	NM_017841.4(SDHAF2):c.2T>C (p.Met1Thr)	SDHAF2 (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 2818845	NM_017841.4(SDHAF2):c.4G>A (p.Ala2Thr)	SDHAF2 (A2T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	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 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 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 pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
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 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 486415	NM_017841.4(SDHAF2):c.7G>A (p.Val3Met)	SDHAF2 (V3M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 411607	NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)	SDHAF2 (V3L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GConflicting classifications of pathogenicity
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 2448519	NM_017841.4(SDHAF2):c.9G>T (p.Val3=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2177494	NM_017841.4(SDHAF2):c.9G>C (p.Val3=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1615513	NM_017841.4(SDHAF2):c.9G>A (p.Val3=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1044704	NM_017841.4(SDHAF2):c.10T>G (p.Ser4Ala)	SDHAF2 (S4A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1510354	NM_017841.4(SDHAF2):c.11C>T (p.Ser4Phe)	SDHAF2 (S4F)	Single nucleotide variant (missense variant)	not provided +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 1769381	NM_017841.4(SDHAF2):c.12T>C (p.Ser4=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1119610	NM_017841.4(SDHAF2):c.12T>A (p.Ser4=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 411610	NM_017841.4(SDHAF2):c.13A>G (p.Thr5Ala)	SDHAF2 (T5A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 960947	NM_017841.4(SDHAF2):c.14C>T (p.Thr5Ile)	SDHAF2 (T5I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 416796	NM_017841.4(SDHAF2):c.15A>G (p.Thr5=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GBenign/Likely benign
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 962304	NM_017841.4(SDHAF2):c.17T>C (p.Val6Ala)	SDHAF2 (V6A)	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 1964543	NM_017841.4(SDHAF2):c.18G>C (p.Val6=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 700300	NM_017841.4(SDHAF2):c.18G>A (p.Val6=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 2055642	NM_017841.4(SDHAF2):c.19T>C (p.Phe7Leu)	SDHAF2 (F7L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1996794	NM_017841.4(SDHAF2):c.19T>G (p.Phe7Val)	SDHAF2 (F7V)	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 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 2149243	NM_017841.4(SDHAF2):c.21C>A (p.Phe7Leu)	SDHAF2 (F7L)	Single nucleotide variant (missense 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 1789274	NM_017841.4(SDHAF2):c.22T>C (p.Ser8Pro)	SDHAF2 (S8P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1789273	NM_017841.4(SDHAF2):c.22T>A (p.Ser8Thr)	SDHAF2 (S8T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790702	NM_017841.4(SDHAF2):c.23C>G (p.Ser8Trp)	SDHAF2 (S8W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1372881	NM_017841.4(SDHAF2):c.23C>T (p.Ser8Leu)	SDHAF2 (S8L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 1792232	NM_017841.4(SDHAF2):c.24G>C (p.Ser8=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 486409	NM_017841.4(SDHAF2):c.24G>A (p.Ser8=)	SDHAF2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 2822847	NM_017841.4(SDHAF2):c.26C>G (p.Thr9Ser)	SDHAF2 (T9S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1460834	NM_017841.4(SDHAF2):c.26C>T (p.Thr9Ile)	SDHAF2 (T9I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
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 1046501	NM_017841.4(SDHAF2):c.28T>A (p.Ser10Thr)	SDHAF2 (S10T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	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 822496	NM_017841.4(SDHAF2):c.29del (p.Ser10fs)	SDHAF2 (S10fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +1 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 1668052	NM_017841.4(SDHAF2):c.30G>C (p.Ser10=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2158448	NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter)	SDHAF2 (S11*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 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 1731051	NM_017841.4(SDHAF2):c.33G>T (p.Ser11=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1731029	NM_017841.4(SDHAF2):c.33G>A (p.Ser11=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1731026	NM_017841.4(SDHAF2):c.33del (p.Ser11_Leu12insTer)	SDHAF2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	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 1142390	NM_017841.4(SDHAF2):c.34C>T (p.Leu12=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1718845	NM_017841.4(SDHAF2):c.35T>A (p.Leu12Gln)	SDHAF2 (L12Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 665787	NM_017841.4(SDHAF2):c.35T>C (p.Leu12Pro)	SDHAF2 (L12P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	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 2020736	NM_017841.4(SDHAF2):c.36+1G>A	SDHAF2	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 1733088	NM_017841.4(SDHAF2):c.36+1G>T	SDHAF2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2682076	NM_017841.4(SDHAF2):c.36+2T>C	SDHAF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 655693	NM_017841.4(SDHAF2):c.36+5G>A	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1421416	NM_017841.4(SDHAF2):c.36+6G>A	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1077551	NM_017841.4(SDHAF2):c.36+6GA[2]	SDHAF2	Microsatellite (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 1546203	NM_017841.4(SDHAF2):c.36+7_36+9del	SDHAF2	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1506236	NM_017841.4(SDHAF2):c.36+9A>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2803422	NM_017841.4(SDHAF2):c.36+10G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
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 1611516	NM_017841.4(SDHAF2):c.36+11A>C	SDHAF2	Single nucleotide variant (intron 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 1962428	NM_017841.4(SDHAF2):c.36+12G>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2129918	NM_017841.4(SDHAF2):c.36+14A>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1660026	NM_017841.4(SDHAF2):c.36+14A>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2895321	NM_017841.4(SDHAF2):c.36+16G>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1990044	NM_017841.4(SDHAF2):c.36+16G>A	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 260943	NM_017841.4(SDHAF2):c.36+17T>C	SDHAF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1635813	NM_017841.4(SDHAF2):c.36+19C>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1202911	NM_017841.4(SDHAF2):c.36+284C>T	SDHAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641829	NM_017841.4(SDHAF2):c.37-793A>G	SDHAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200207	NM_017841.4(SDHAF2):c.37-176G>A	SDHAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910041	NM_017841.4(SDHAF2):c.37-113T>G	SDHAF2	Single nucleotide variant (intron 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 2190614	NM_017841.4(SDHAF2):c.37-20T>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1571300	NM_017841.4(SDHAF2):c.37-18G>A	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign

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