"Ambry Genetics"[submitter] AND "SDHA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371942	NM_004168.4(SDHA):c.-7A>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 3223751	NM_004168.4(SDHA):c.-5C>G	SDHA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 486398	NM_004168.4(SDHA):c.-4dup	SDHA	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 371867	NM_004168.4(SDHA):c.-5C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1744685	NM_004168.4(SDHA):c.-4A>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1744677	NM_004168.4(SDHA):c.-4A>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 259243	NM_004168.4(SDHA):c.-4A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GBenign/Likely benign
Select item 1736905	NM_004168.4(SDHA):c.-3G>A	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 824486	NM_004168.4(SDHA):c.-3G>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486369	NM_004168.4(SDHA):c.-3G>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1798646	NM_004168.4(SDHA):c.-2A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 486359	NM_004168.4(SDHA):c.-2A>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GConflicting classifications of pathogenicity
Select item 1784203	NM_004168.4(SDHA):c.-1del	SDHA	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784187	NM_004168.4(SDHA):c.-1C>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 353200	NM_004168.4(SDHA):c.-1C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 371794	NM_004168.4(SDHA):c.1A>T (p.Met1Leu)	SDHA (M1L)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +3 more	GPathogenic/Likely pathogenic
Select item 239661	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA (M1V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 8744	NM_004168.4(SDHA):c.1A>C (p.Met1Leu)	SDHA (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 582115	NM_004168.4(SDHA):c.2T>A (p.Met1Lys)	SDHA (M1K)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +2 more	GPathogenic
Select item 422382	NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	SDHA (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 412398	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2562379	NM_004168.4(SDHA):c.3G>A (p.Met1Ile)	SDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +2 more	GPathogenic
Select item 1408872	NM_004168.4(SDHA):c.3G>T (p.Met1Ile)	SDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic
Select item 1750996	NM_004168.4(SDHA):c.5dup (p.Val4fs)	SDHA (V4fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1363080	NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)	SDHA (S2A)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 3254407	NM_004168.4(SDHA):c.9_10dup (p.Val4fs)	SDHA (V4fs)	Duplication (frameshift variant)	Paragangliomas 5 +1 more	GPathogenic
Select item 412386	NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)	SDHA (S2L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GConflicting classifications of pathogenicity
Select item 3223709	NM_004168.4(SDHA):c.10del (p.Val4fs)	SDHA (V4fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 826765	NM_004168.4(SDHA):c.6G>T (p.Ser2=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 826764	NM_004168.4(SDHA):c.6G>C (p.Ser2=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 793653	NM_004168.4(SDHA):c.6G>A (p.Ser2=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 1761600	NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)	SDHA (G3R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 858972	NM_004168.4(SDHA):c.7G>C (p.Gly3Arg)	SDHA (G3R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 580088	NM_004168.4(SDHA):c.8G>C (p.Gly3Ala)	SDHA (G3A)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 1768935	NM_004168.4(SDHA):c.9G>A (p.Gly3=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 1129202	NM_004168.4(SDHA):c.9G>C (p.Gly3=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 486386	NM_004168.4(SDHA):c.9G>T (p.Gly3=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 968572	NM_004168.4(SDHA):c.10G>A (p.Val4Ile)	SDHA (V4I)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 822169	NM_004168.4(SDHA):c.10G>T (p.Val4Phe)	SDHA (V4F)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 1747207	NM_004168.4(SDHA):c.11T>C (p.Val4Ala)	SDHA (V4A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 818569	NM_004168.4(SDHA):c.11T>G (p.Val4Gly)	SDHA (V4G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1769344	NM_004168.4(SDHA):c.12C>G (p.Val4=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 417236	NM_004168.4(SDHA):c.12C>T (p.Val4=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 1131130	NM_004168.4(SDHA):c.13C>A (p.Arg5=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 966890	NM_004168.4(SDHA):c.13C>G (p.Arg5Gly)	SDHA (R5G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 412384	NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)	SDHA (R5W)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 570408	NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)	SDHA (R5Q)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 1398130	NM_004168.4(SDHA):c.16G>C (p.Gly6Arg)	SDHA (G6R)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 948964	NM_004168.4(SDHA):c.16G>A (p.Gly6Ser)	SDHA (G6S)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GConflicting classifications of pathogenicity
Select item 862272	NM_004168.4(SDHA):c.17G>C (p.Gly6Ala)	SDHA (G6A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 849161	NM_004168.4(SDHA):c.17G>T (p.Gly6Val)	SDHA (G6V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 224952	NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)	SDHA (G6D)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 578716	NM_004168.4(SDHA):c.18C>T (p.Gly6=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 472369	NM_004168.4(SDHA):c.18C>A (p.Gly6=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 837864	NM_004168.4(SDHA):c.19C>G (p.Leu7Val)	SDHA (L7V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 765006	NM_004168.4(SDHA):c.19C>T (p.Leu7=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 946079	NM_004168.4(SDHA):c.20T>C (p.Leu7Pro)	SDHA (L7P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3223739	NM_004168.4(SDHA):c.21G>A (p.Leu7=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 839833	NM_004168.4(SDHA):c.22T>C (p.Ser8Pro)	SDHA (S8P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1466771	NM_004168.4(SDHA):c.23C>T (p.Ser8Leu)	SDHA (S8L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1451165	NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)	SDHA (S8*)	Single nucleotide variant (nonsense)	Paragangliomas 5 +2 more	GPathogenic
Select item 239665	NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)	SDHA (S8W)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GUncertain significance
Select item 1792236	NM_004168.4(SDHA):c.24G>T (p.Ser8=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1792225	NM_004168.4(SDHA):c.24G>A (p.Ser8=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 417250	NM_004168.4(SDHA):c.24G>C (p.Ser8=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 539688	NM_004168.4(SDHA):c.25C>G (p.Arg9Gly)	SDHA (R9G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1593543	NM_004168.4(SDHA):c.27G>A (p.Arg9=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2486113	NM_004168.4(SDHA):c.30G>C (p.Leu10=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1729967	NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)	SDHA (L11R)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1731038	NM_004168.4(SDHA):c.33G>A (p.Leu11=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1540133	NM_004168.4(SDHA):c.33G>T (p.Leu11=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 942959	NM_004168.4(SDHA):c.34A>G (p.Ser12Gly)	SDHA (S12G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1096358	NM_004168.4(SDHA):c.39T>C (p.Ala13=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 972232	NM_004168.4(SDHA):c.40C>G (p.Arg14Gly)	SDHA (R14G)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 950063	NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)	SDHA (R14W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 472386	NM_004168.4(SDHA):c.40C>A (p.Arg14=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 2452799	NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)	SDHA (R14P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1740311	NM_004168.4(SDHA):c.43C>T (p.Arg15Cys)	SDHA (R15C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1741037	NM_004168.4(SDHA):c.44G>A (p.Arg15His)	SDHA (R15H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 412348	NM_004168.4(SDHA):c.44G>C (p.Arg15Pro)	SDHA (R15P)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 3223746	NM_004168.4(SDHA):c.45C>A (p.Arg15=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 417235	NM_004168.4(SDHA):c.45C>T (p.Arg15=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 745215	NM_004168.4(SDHA):c.46C>T (p.Leu16=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 1640775	NM_004168.4(SDHA):c.48G>C (p.Leu16=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 698546	NM_004168.4(SDHA):c.51G>A (p.Ala17=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +4 more	GLikely benign
Select item 486400	NM_004168.4(SDHA):c.52C>G (p.Leu18Val)	SDHA (L18V)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 3316862	NM_004168.4(SDHA):c.55G>T (p.Ala19Ser)	SDHA (A19S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 574760	NM_004168.4(SDHA):c.55G>A (p.Ala19Thr)	SDHA (A19T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1485111	NM_004168.4(SDHA):c.56C>G (p.Ala19Gly)	SDHA (A19G)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1749747	NM_004168.4(SDHA):c.57C>T (p.Ala19=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 252901	NM_004168.4(SDHA):c.57C>G (p.Ala19=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1002268	NM_004168.4(SDHA):c.58A>G (p.Lys20Glu)	SDHA (K20E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2067043	NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)	SDHA (K20N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 826381	NM_004168.4(SDHA):c.63G>T (p.Ala21=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 141693	NM_004168.4(SDHA):c.63G>A (p.Ala21=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2587086	NM_004168.4(SDHA):c.63+1G>A	SDHA	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 654216	NM_004168.4(SDHA):c.63+2del	SDHA	Deletion (splice donor variant)	Paragangliomas 5 +2 more	GLikely pathogenic
Select item 229704	NM_004168.4(SDHA):c.64-3C>T	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 835516	NM_004168.4(SDHA):c.64-2A>G	SDHA	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2587077	NM_004168.4(SDHA):c.66G>A (p.Trp22Ter)	SDHA (W22*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic

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