"Ambry Genetics"[submitter] AND "LOC129996881"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2257869	NM_021620.4(PRDM13):c.967G>A (p.Gly323Ser)	LOC129996881, PRDM13 (G323S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371226	NM_021620.4(PRDM13):c.979G>A (p.Gly327Ser)	LOC129996881, PRDM13 (G327S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1053220	NM_021620.4(PRDM13):c.1045G>A (p.Gly349Ser)	LOC129996881, PRDM13 (G349S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2865035	NM_021620.4(PRDM13):c.1072G>A (p.Ala358Thr)	LOC129996881, PRDM13 (A358T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2334866	NM_021620.4(PRDM13):c.1105G>T (p.Ala369Ser)	LOC129996881, PRDM13 (A369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1037548	NM_021620.4(PRDM13):c.1159C>T (p.Arg387Cys)	LOC129996881, PRDM13 (R387C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar