"OMIM"[submitter] AND "SAMD9L"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988630	NM_152703.5(SAMD9L):c.4535T>C (p.Val1512Ala)	SAMD9L	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988631	NM_152703.5(SAMD9L):c.3842G>A (p.Arg1281Lys)	SAMD9L (R1281K)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1	GPathogenic
Select item 242373	NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)	SAMD9L (C1196S)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GPathogenic/Likely pathogenic
Select item 446530	NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	SAMD9L (R986C)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 446529	NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr)	SAMD9L (I891T)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome	GPathogenic
Select item 242372	NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)	SAMD9L (H880Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 432926	NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)	SAMD9L (S626L)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar