"Ambry Genetics"[submitter] AND "LOC126860121"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329360	NM_001375524.1(TRRAP):c.5114A>G (p.Tyr1705Cys)	LOC126860121, TRRAP (Y1698C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544433	NM_001375524.1(TRRAP):c.5147G>C (p.Gly1716Ala)	LOC126860121, TRRAP (G1691A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056068	NM_001375524.1(TRRAP):c.5260G>A (p.Ala1754Thr)	LOC126860121, TRRAP (A1747T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2297968	NM_001375524.1(TRRAP):c.5284C>T (p.Arg1762Cys)	LOC126860121, TRRAP (R1755C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536790	NM_001375524.1(TRRAP):c.5305C>T (p.Pro1769Ser)	LOC126860121, TRRAP (P1762S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1487642	NM_001375524.1(TRRAP):c.5314G>A (p.Gly1772Arg)	LOC126860121, TRRAP (G1772R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar