"Ambry Genetics"[submitter] AND "LOC101928386"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283037	NM_001376312.2(GTDC1):c.1304C>T (p.Ala435Val)	GTDC1, LOC101928386 (A306V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3283035	NM_001376312.2(GTDC1):c.1303G>A (p.Ala435Thr)	GTDC1, LOC101928386 (A435T +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2297712	NM_001376312.2(GTDC1):c.1202C>T (p.Ala401Val)	GTDC1, LOC101928386 (A450V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355311	NM_001376312.2(GTDC1):c.1199C>G (p.Pro400Arg)	GTDC1, LOC101928386 (P282R +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370448	NM_001376312.2(GTDC1):c.1195T>C (p.Phe399Leu)	GTDC1, LOC101928386 (F367L +8 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2553240	NM_001376312.2(GTDC1):c.1178T>G (p.Leu393Trp)	GTDC1, LOC101928386 (L308W +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334212	NM_001376312.2(GTDC1):c.1166G>C (p.Cys389Ser)	GTDC1, LOC101928386 (C237S +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar