Related gene-specific medical variations for Gene (Select 8803) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362011	NM_003850.3(SUCLA2):c.700G>C (p.Glu234Gln)	SUCLA2 (E234Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3323515	NM_003850.3(SUCLA2):c.46C>G (p.Leu16Val)	LOC130009747, SUCLA2 (L16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244193	NC_000013.10:g.(?_48517506)_(48517600_?)del	SUCLA2	Deletion	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 3244192	NC_000013.10:g.(?_48517506)_(48575405_?)del	SUCLA2	Deletion	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GPathogenic
Select item 2704804	NM_003850.3(SUCLA2):c.90+14del	LOC130009747, SUCLA2	Deletion (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2690169	NM_003850.3(SUCLA2):c.442A>G (p.Lys148Glu)	SUCLA2 (K148E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2663528	NM_003850.3(SUCLA2):c.77G>A (p.Arg26Gln)	LOC130009747, SUCLA2 (R26Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436520	NM_003850.3(SUCLA2):c.1141A>G (p.Ile381Val)	SUCLA2 (I381V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2436519	NM_003850.3(SUCLA2):c.455G>A (p.Cys152Tyr)	SUCLA2 (C152Y)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2184567	NM_003850.3(SUCLA2):c.90+7C>A	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 2114394	NM_003850.3(SUCLA2):c.54C>A (p.Asn18Lys)	LOC130009747, SUCLA2 (N18K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 2074825	NM_003850.3(SUCLA2):c.90+6G>A	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1992408	NM_003850.3(SUCLA2):c.547_549del (p.Ile183del)	SUCLA2 (I183del)	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1978897	NM_003850.3(SUCLA2):c.69G>A (p.Thr23=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1953161	NM_003850.3(SUCLA2):c.86C>A (p.Ala29Asp)	LOC130009747, SUCLA2 (A29D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1936039	NM_003850.3(SUCLA2):c.90+17C>T	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1932818	NM_003850.3(SUCLA2):c.68C>T (p.Thr23Met)	LOC130009747, SUCLA2 (T23M)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GUncertain significance
Select item 1806856	NM_003850.3(SUCLA2):c.664C>T (p.Leu222Phe)	SUCLA2 (L222F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656040	NM_003850.3(SUCLA2):c.39G>A (p.Val13=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1540522	NM_003850.3(SUCLA2):c.90+19C>T	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 1334927	NM_003850.3(SUCLA2):c.90+24G>A	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GBenign
Select item 1226531	NM_003850.3(SUCLA2):c.90+76G>C	LOC130009747, SUCLA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1057019	NM_003850.3(SUCLA2):c.58C>T (p.Arg20Trp)	LOC130009747, SUCLA2 (R20W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 1045632	NM_003850.3(SUCLA2):c.35C>T (p.Ala12Val)	LOC130009747, SUCLA2 (A12V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 882380	NM_003850.3(SUCLA2):c.36C>T (p.Ala12=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GUncertain significance
Select item 870729	NM_003850.3(SUCLA2):c.766G>T (p.Glu256Ter)	SUCLA2 (E256*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 707080	NM_003850.3(SUCLA2):c.88C>G (p.Gln30Glu)	LOC130009747, SUCLA2 (Q30E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GBenign
Select item 676420	NC_000013.10:g.48575208del	SUCLA2	Deletion	not provided	GBenign
Select item 591042	NM_003850.3(SUCLA2):c.409G>A (p.Gly137Arg)	SUCLA2 (G137R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 537759	NM_003850.3(SUCLA2):c.78G>A (p.Arg26=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GLikely benign
Select item 522686	NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val)	SUCLA2 (D272V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	GConflicting classifications of pathogenicity
Select item 511370	NM_003850.3(SUCLA2):c.81T>G (p.Ala27=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 386595	NM_003850.3(SUCLA2):c.36C>G (p.Ala12=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GLikely benign
Select item 312272	NM_003850.3(SUCLA2):c.68C>G (p.Thr23Arg)	LOC130009747, SUCLA2 (T23R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288868	NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)	LOC130009747, SUCLA2 (R17G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203952	NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val)	LOC130009747, SUCLA2 (A27V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 203951	NM_003850.3(SUCLA2):c.64C>T (p.Arg22Trp)	LOC130009747, SUCLA2 (R22W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 139367	NM_003850.3(SUCLA2):c.45C>T (p.Thr15=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 139366	NM_003850.3(SUCLA2):c.37G>A (p.Val13Met)	LOC130009747, SUCLA2 (V13M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign

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Items: 39