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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1062399	NM_015895.5(GMNN):c.136G>A (p.Ala46Thr)	GMNN (A46T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1371636	NM_015895.5(GMNN):c.158A>G (p.His53Arg)	GMNN (H53R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2261159	NM_015895.5(GMNN):c.217A>G (p.Ser73Gly)	GMNN (S73G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100510	NM_015895.5(GMNN):c.236G>C (p.Gly79Ala)	GMNN (G79A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1596747	NM_015895.5(GMNN):c.323A>G (p.Lys108Arg)	GMNN (K108R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 809886	NM_015895.5(GMNN):c.397C>T (p.Arg133Cys)	GMNN (R133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2375778	NM_015895.5(GMNN):c.406A>G (p.Lys136Glu)	GMNN (K136E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2611100	NM_015895.5(GMNN):c.490G>A (p.Asp164Asn)	GMNN (D164N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar