"Laboratory of Diagnostic Genome Analysis, Leiden University Medical C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133492	NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu)	AMER1 (P884L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1206234	NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln)	AMER1 (R601Q)	Single nucleotide variant (missense variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 133487	NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys)	AMER1 (Y599C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 133499	NM_152424.4(AMER1):c.790G>A (p.Ala264Thr)	AMER1 (A264T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784730	NM_152424.4(AMER1):c.401A>C (p.His134Pro)	AMER1 (H134P)	Single nucleotide variant (missense variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 133501	NM_152424.4(AMER1):c.85G>A (p.Ala29Thr)	AMER1 (A29T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar