Related gene-specific medical variations for Gene (Select 47) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64474	NM_001096.3(ACLY):c.789C>T (p.Ser263=)	ACLY	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64473	NM_001096.3(ACLY):c.652G>A (p.Ala218Thr)	ACLY (A218T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64472	NM_001096.3(ACLY):c.465C>A (p.Gly155=)	ACLY	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64471	NM_001096.3(ACLY):c.2895G>A (p.Lys965=)	ACLY	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64470	NM_001096.3(ACLY):c.2747C>T (p.Ala916Val)	ACLY (A916V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64469	NM_001096.3(ACLY):c.1765G>A (p.Ala589Thr)	ACLY (A589T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64468	NM_001096.3(ACLY):c.1484G>A (p.Arg495His)	ACLY (R495H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64467	NM_001096.3(ACLY):c.1395G>A (p.Ala465=)	ACLY	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64466	NM_001096.3(ACLY):c.1122A>C (p.Thr374=)	ACLY	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64465	NM_001096.3(ACLY):c.-67C>T	ACLY (S31L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance