ClinVar for MedGen (Select 1779901) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573516	NC_000005.9:g.(?_218337)_(235455_236542)del	SDHA	Deletion	Neurodegeneration with ataxia and late-onset optic atrophy	GLikely pathogenic
Select item 1427211	NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)	SDHA (N447D +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 1185375	NM_004168.4(SDHA):c.1795-66C>T	SDHA	Single nucleotide variant (intron variant)	Neurodegeneration with ataxia and late-onset optic atrophy +2 more	GBenign
Select item 1185374	NM_004168.4(SDHA):c.456+91G>C	SDHA	Single nucleotide variant (intron variant)	Neurodegeneration with ataxia and late-onset optic atrophy +2 more	GBenign
Select item 1070947	NM_004168.4(SDHA):c.1012del (p.Ala338fs)	SDHA (A290fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1066704	NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)	SDHA (G212R +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GPathogenic/Likely pathogenic
Select item 956996	NM_004168.4(SDHA):c.1663+1G>A	SDHA	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GPathogenic/Likely pathogenic
Select item 950063	NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)	SDHA (R14W)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 947042	NM_004168.4(SDHA):c.484del (p.Arg162fs)	SDHA (R114fs +1 more)	Deletion (frameshift variant)	Paragangliomas 5 +3 more	GPathogenic/Likely pathogenic
Select item 904554	NM_004168.4(SDHA):c.*179G>A	SDHA	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 839818	NM_004168.4(SDHA):c.809A>T (p.His270Leu)	SDHA (H222L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 826994	NM_004168.4(SDHA):c.736C>T (p.Arg246Cys)	SDHA (R246C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 825001	NM_004168.4(SDHA):c.456+1G>A	SDHA	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely pathogenic
Select item 700677	NM_004168.4(SDHA):c.585G>C (p.Arg195=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 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 664015	NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)	SDHA (T565N +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 660259	NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn)	SDHA (K349N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 659802	NM_004168.4(SDHA):c.365A>G (p.His122Arg)	SDHA (H122R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 654288	NM_004168.4(SDHA):c.421T>C (p.Tyr141His)	SDHA (Y141H)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 653810	NM_004168.4(SDHA):c.1579del (p.Arg527fs)	SDHA (R527fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 647317	NM_004168.4(SDHA):c.559C>T (p.His187Tyr)	SDHA (H187Y +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 640960	NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)	SDHA (N650S +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 570408	NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)	SDHA (R5Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 548821	NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)	SDHA (T281A +1 more)	Single nucleotide variant (missense variant)	SDHA-related condition +5 more	GUncertain significance
Select item 539687	NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)	SDHA (E324K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 539680	NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)	SDHA (S52T)	Single nucleotide variant (missense variant)	Neurodegeneration with ataxia and late-onset optic atrophy +4 more	GUncertain significance
Select item 539668	NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)	SDHA (A442T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 539655	NM_004168.4(SDHA):c.204C>T (p.Gly68=)	SDHA	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1GG +4 more	GConflicting classifications of pathogenicity
Select item 539652	NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)	SDHA (E360K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 539638	NM_004168.4(SDHA):c.340A>G (p.Met114Val)	SDHA (M114V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 486373	NM_004168.4(SDHA):c.954C>T (p.Leu318=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +4 more	GLikely benign
Select item 472396	NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)	SDHA (R195Q +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GUncertain significance
Select item 472347	NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)	SDHA (Y543H +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 472293	NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)	SDHA (A334V +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +5 more	GUncertain significance
Select item 472291	NM_004168.4(SDHA):c.688del (p.Glu230fs)	SDHA (E182fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 449389	NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)	SDHA (R451C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 412397	NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)	SDHA (T551M +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +4 more	GUncertain significance
Select item 412393	NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)	SDHA (A488T +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 412390	NM_004168.4(SDHA):c.169G>T (p.Val57Leu)	SDHA (V57L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 412372	NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)	SDHA (P643R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 412361	NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)	SDHA (P372R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 412352	NM_004168.4(SDHA):c.424A>G (p.Met142Val)	SDHA (M142V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 412349	NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)	SDHA (T203A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +5 more	GUncertain significance
Select item 412346	NM_004168.4(SDHA):c.762_770+17del	SDHA	Deletion (splice donor variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GPathogenic/Likely pathogenic
Select item 412339	NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)	SDHA (P477S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 412337	NM_004168.4(SDHA):c.997G>C (p.Val333Leu)	SDHA (V333L +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 412335	NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)	SDHA (Y156D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 380580	NM_004168.4(SDHA):c.1551+16C>T	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +4 more	GBenign/Likely benign
Select item 371805	NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	SDHA (R512* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GPathogenic/Likely pathogenic
Select item 259248	NM_004168.4(SDHA):c.771-11A>G	SDHA	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +8 more	GBenign
Select item 239687	NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)	SDHA (R31Q)	Single nucleotide variant (missense variant)	Paragangliomas 5 +6 more	GConflicting classifications of pathogenicity
Select item 239686	NM_004168.4(SDHA):c.919A>G (p.Ile307Val)	SDHA (I307V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 239659	NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)	SDHA (R600W +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 239651	NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)	SDHA (R512Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +6 more	GUncertain significance
Select item 239647	NM_004168.4(SDHA):c.1432_1432+1del	SDHA	Deletion (splice donor variant)	Paragangliomas 5 +7 more	GPathogenic/Likely pathogenic
Select item 239642	NM_004168.4(SDHA):c.1273G>A (p.Val425Met)	SDHA (V425M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 231173	NM_004168.4(SDHA):c.1663+1G>T	SDHA	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 5 +5 more	GPathogenic/Likely pathogenic
Select item 221076	NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)	SDHA (I235T +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GUncertain significance
Select item 209127	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA (R75*)	Single nucleotide variant (nonsense)	Paragangliomas 5 +5 more	GPathogenic/Likely pathogenic
Select item 160358	NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	SDHA (R585W +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with ataxia and late-onset optic atrophy +6 more	GConflicting classifications of pathogenicity
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Pilocytic astrocytoma +9 more	GPathogenic/Likely pathogenic
Select item 130283	NM_004168.4(SDHA):c.891T>C (p.Pro297=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign
Select item 130275	NM_004168.4(SDHA):c.1664-8G>A	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +8 more	GBenign/Likely benign
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

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Items: 66