"Ambry Genetics"[submitter] AND "PRELID2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2604563	NM_205846.3(PRELID2):c.344G>A (p.Arg115Gln)	PRELID2 (R127Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263396	NM_205846.3(PRELID2):c.344G>C (p.Arg115Pro)	PRELID2 (R86P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288287	NM_205846.3(PRELID2):c.307A>G (p.Thr103Ala)	PRELID2 (T103A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290367	NM_205846.3(PRELID2):c.283A>C (p.Ile95Leu)	PRELID2 (I107L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494777	NM_205846.3(PRELID2):c.67C>T (p.Leu23Phe)	PRELID2 (L23F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408341	NM_205846.3(PRELID2):c.62G>C (p.Ser21Thr)	PRELID2 (S21T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar