"Ambry Genetics"[submitter] AND "AMD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2247433	NM_015076.5(CDK19):c.46G>A (p.Val16Met)	AMD1, CDK19 (V16M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355323	NM_001634.6(AMD1):c.175A>C (p.Lys59Gln)	AMD1 (K59Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2302980	NM_001634.6(AMD1):c.254C>A (p.Thr85Asn)	AMD1 (T16N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524929	NM_001634.6(AMD1):c.289C>A (p.Leu97Ile)	AMD1 (L28I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3114936	NM_001634.6(AMD1):c.401T>C (p.Ile134Thr)	AMD1 (I134T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361178	NM_001634.6(AMD1):c.713C>T (p.Thr238Ile)	AMD1 (T121I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292385	NM_001634.6(AMD1):c.805A>G (p.Arg269Gly)	AMD1 (R200G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285271	NM_001634.6(AMD1):c.920G>A (p.Arg307His)	AMD1 (R190H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar