ClinVar for MedGen (Select 462248) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678633	NM_004168.4(SDHA):c.1232del (p.Gly411fs)	SDHA (G363fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1GG	GLikely pathogenic
Select item 2678631	NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)	SDHA	Deletion (frameshift variant)	Dilated cardiomyopathy 1GG +3 more	GPathogenic/Likely pathogenic
Select item 2678630	NM_004168.4(SDHA):c.1188_1195del (p.Lys397fs)	SDHA (K349fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1GG	GLikely pathogenic
Select item 2678629	NM_004168.4(SDHA):c.668dup (p.Asp223fs)	SDHA (D175fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1GG	GLikely pathogenic
Select item 2678628	NM_004168.4(SDHA):c.1260+1G>T	SDHA	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1GG	GLikely pathogenic
Select item 2678627	NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)	SDHA (Q319* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1GG +2 more	GPathogenic/Likely pathogenic
Select item 2678626	NM_004168.4(SDHA):c.1552-219A>G	SDHA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678625	NM_004168.4(SDHA):c.1274T>A (p.Val425Glu)	SDHA (V377E +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678623	NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)	SDHA (I580T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2678622	NM_004168.4(SDHA):c.623C>T (p.Ser208Phe)	SDHA (S160F +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678620	NM_004168.4(SDHA):c.49G>T (p.Ala17Ser)	SDHA (A17S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678619	NM_004168.4(SDHA):c.1908+176A>T	SDHA	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678618	NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)	SDHA (T165A +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2678617	NM_004168.4(SDHA):c.584G>C (p.Arg195Pro)	SDHA (R147P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678616	NM_004168.4(SDHA):c.1186A>C (p.Thr396Pro)	SDHA (T348P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678615	NM_004168.4(SDHA):c.1159_1162del (p.Thr386_Ala387insTer)	SDHA	Deletion (nonsense)	Dilated cardiomyopathy 1GG	GLikely pathogenic
Select item 2678614	NM_004168.4(SDHA):c.854T>C (p.Leu285Pro)	SDHA (L237P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678613	NM_004168.4(SDHA):c.1915_1916del (p.Leu639fs)	SDHA (L558fs +2 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678612	NM_004168.4(SDHA):c.407A>G (p.Gln136Arg)	SDHA (Q136R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678611	NM_004168.4(SDHA):c.723_730dup (p.Ile244fs)	SDHA (I196fs +1 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1GG	GLikely pathogenic
Select item 2678610	NM_004168.4(SDHA):c.1331C>A (p.Ala444Asp)	SDHA (A396D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG	GUncertain significance
Select item 2678609	NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)	SDHA (P434S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 2485783	NM_004168.4(SDHA):c.885C>G (p.Phe295Leu)	SDHA (F295L +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +1 more	GUncertain significance
Select item 2416121	NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)	SDHA (I191R +1 more)	Single nucleotide variant (missense variant)	SDHA-related condition +3 more	GUncertain significance
Select item 2201396	NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)	SDHA (T91I)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 1755035	NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)	SDHA (L176F +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 1719638	NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)	SDHA (K370E +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 1712840	NM_004168.4(SDHA):c.1795G>A (p.Val599Met)	SDHA (V518M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1709506	NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)	SDHA (Q380fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1480686	NM_004168.4(SDHA):c.411T>G (p.Asp137Glu)	SDHA (D137E)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 1460722	NM_004168.4(SDHA):c.166C>A (p.Pro56Thr)	SDHA (P56T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +2 more	GUncertain significance
Select item 1427310	NM_004168.4(SDHA):c.598C>A (p.Leu200Ile)	SDHA (L200I +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
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 1351014	NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu)	SDHA (F526L +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +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)	Paragangliomas 5 +2 more	GPathogenic
Select item 1067316	NM_004168.4(SDHA):c.771-1G>C	SDHA	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1GG +2 more	GLikely pathogenic
Select item 1063638	NM_004168.4(SDHA):c.572G>C (p.Cys191Ser)	SDHA (C143S +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 1056465	NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr)	SDHA (C89Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1042013	NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg)	SDHA (G489R +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +3 more	GUncertain significance
Select item 1034054	NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro)	SDHA (L494P +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 1009443	NM_004168.4(SDHA):c.63+3del	SDHA	Deletion (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 1003359	NM_004168.4(SDHA):c.941A>G (p.Glu314Gly)	SDHA (E266G +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 968572	NM_004168.4(SDHA):c.10G>A (p.Val4Ile)	SDHA (V4I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 963836	NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg)	SDHA (G419R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 959390	NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala)	SDHA (G535A +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1GG +2 more	GUncertain significance
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 955565	NM_004168.4(SDHA):c.396G>T (p.Trp132Cys)	SDHA (W132C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 955093	NM_004168.4(SDHA):c.926A>G (p.Glu309Gly)	SDHA (E309G +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
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 947167	NM_004168.4(SDHA):c.608C>T (p.Thr203Ile)	SDHA (T155I +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 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 942329	NM_004168.4(SDHA):c.456G>A (p.Glu152=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
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 861976	NM_004168.4(SDHA):c.1028T>A (p.Val343Glu)	SDHA (V295E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 856710	NM_004168.4(SDHA):c.1564_1566del (p.His522del)	SDHA (H522del +1 more)	Deletion (inframe_deletion +1 more)	Paragangliomas 5 +3 more	GUncertain significance
Select item 855207	NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)	SDHA (R195W +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +5 more	GUncertain significance
Select item 851117	NM_004168.4(SDHA):c.737G>A (p.Arg246His)	SDHA (R198H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 848656	NM_004168.4(SDHA):c.1260+1G>A	SDHA	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1GG +2 more	GLikely pathogenic
Select item 847930	NM_004168.4(SDHA):c.869T>C (p.Leu290Pro)	SDHA (L242P +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 844105	NM_004168.4(SDHA):c.1663+5G>C	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 839818	NM_004168.4(SDHA):c.809A>T (p.His270Leu)	SDHA (H222L +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 825814	NM_004168.4(SDHA):c.553C>G (p.Gln185Glu)	SDHA (Q137E +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 825001	NM_004168.4(SDHA):c.456+1G>A	SDHA	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 5 +4 more	GLikely pathogenic
Select item 820258	NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys)	SDHA (Y581C +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 819198	NM_004168.4(SDHA):c.1432+1_1432+2delinsAG	SDHA	Indel (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 819013	NM_004168.4(SDHA):c.1370T>A (p.Leu457His)	SDHA (L457H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 818320	NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg)	SDHA (G306R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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)	Hereditary cancer-predisposing syndrome +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 662316	NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser)	SDHA (N402S +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +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)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 658469	NM_004168.4(SDHA):c.785C>T (p.Thr262Ile)	SDHA (T214I +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 653810	NM_004168.4(SDHA):c.1579del (p.Arg527fs)	SDHA (R527fs +1 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +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 646346	NM_004168.4(SDHA):c.595T>A (p.Ser199Thr)	SDHA (S151T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 643904	NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg)	SDHA (L518R +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 642754	NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp)	SDHA (N368D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 581412	NM_004168.4(SDHA):c.1352G>A (p.Arg451His)	SDHA (R451H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 579129	NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)	SDHA (L573V +1 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +3 more	GUncertain significance
Select item 578770	NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)	SDHA (Y301C +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 577148	NM_004168.4(SDHA):c.89C>T (p.Thr30Ile)	SDHA (T30I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 572160	NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg)	SDHA (K547R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 571301	NM_004168.4(SDHA):c.935G>A (p.Arg312His)	SDHA (R312H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 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 568109	NM_004168.4(SDHA):c.106A>T (p.Thr36Ser)	SDHA (T36S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 565609	NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr)	SDHA (I645T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +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)	Paragangliomas 5 +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)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 539686	NM_004168.4(SDHA):c.830C>A (p.Thr277Lys)	SDHA (T277K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 539680	NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)	SDHA (S52T)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 539679	NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)	SDHA (E230Q +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +3 more	GUncertain significance
Select item 539673	NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)	SDHA (T87I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 539663	NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)	SDHA (R210* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GPathogenic/Likely pathogenic
Select item 539657	NM_004168.4(SDHA):c.1340A>G (p.His447Arg)	SDHA (H447R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 539655	NM_004168.4(SDHA):c.204C>T (p.Gly68=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity

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