Related gene-specific medical variations for Gene (Select 6950) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325041	NM_030752.3(TCP1):c.1639G>A (p.Asp547Asn)	ACAT2, TCP1 (D392N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538371	NM_030752.3(TCP1):c.1641T>A (p.Asp547Glu)	ACAT2, TCP1 (D547E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2536856	NM_005891.3(ACAT2):c.1126A>G (p.Ser376Gly)	ACAT2, TCP1 (S376G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491863	NM_005891.3(ACAT2):c.1105A>G (p.Thr369Ala)	ACAT2, TCP1 (T369A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377858	NM_005891.3(ACAT2):c.1042G>T (p.Ala348Ser)	ACAT2, TCP1 (A348S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340561	NM_005891.3(ACAT2):c.1118T>C (p.Met373Thr)	ACAT2, TCP1 (M402T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2280609	NM_005891.3(ACAT2):c.1070C>G (p.Ala357Gly)	ACAT2, TCP1 (A357G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726396	NM_005891.3(ACAT2):c.1024-5G>A	ACAT2, TCP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign

ClinVar