"Athena Diagnostics"[submitter] AND "SUCLA2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 448536	NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn)	SUCLA2 (D315N)	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 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 139359	NM_003850.3(SUCLA2):c.510A>G (p.Ala170=)	SUCLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 139358	NM_003850.3(SUCLA2):c.371+9C>T	SUCLA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 586919	NM_003850.3(SUCLA2):c.308C>A (p.Ala103Asp)	SUCLA2 (A103D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 139364	NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val)	SUCLA2 (I86V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 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 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 139367	NM_003850.3(SUCLA2):c.45C>T (p.Thr15=)	LOC130009747, SUCLA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign