C1327919[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065345	NM_152703.5(SAMD9L):c.3467C>A (p.Ala1156Glu)	SAMD9L (A1156E)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3065891	NM_152703.5(SAMD9L):c.3457C>A (p.Leu1153Ile)	SAMD9L (L1153I)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 1190635	NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)	SAMD9L (R986H)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 446530	NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	SAMD9L (R986C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3067822	NM_152703.5(SAMD9L):c.1789A>G (p.Arg597Gly)	SAMD9L (R597G)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance
Select item 3064808	NM_152703.5(SAMD9L):c.901G>C (p.Asp301His)	SAMD9L (D301H)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GUncertain significance

ClinVar