"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SUCLA2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694084	NM_003850.3(SUCLA2):c.1228+4A>G	SUCLA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 139362	NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn)	SUCLA2 (D367N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 559324	NM_003850.3(SUCLA2):c.692A>G (p.Asn231Ser)	SUCLA2 (N231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034831	NM_003850.3(SUCLA2):c.629T>C (p.Ile210Thr)	SUCLA2 (I210T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GUncertain significance
Select item 203956	NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly)	SUCLA2 (E206G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 139360	NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr)	SUCLA2 (S199T)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +2 more	GBenign
Select item 139358	NM_003850.3(SUCLA2):c.371+9C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3380150	NM_003850.3(SUCLA2):c.137A>T (p.Gln46Leu)	SUCLA2 (Q46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139363	NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp)	SUCLA2 (L37W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3380151	NM_003850.3(SUCLA2):c.92T>C (p.Val31Ala)	SUCLA2 (V31A)	Single nucleotide variant (missense variant)	not provided	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 559325	NM_003850.3(SUCLA2):c.-3_-2del	SUCLA2	Deletion (5 prime UTR variant)	not provided	GUncertain significance