Related gene-specific medical variations for Gene (Select 90952) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065558	NM_138961.3(ESAM):c.949C>T (p.Arg317Ter)	ESAM (R317*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	GLikely pathogenic
Select item 2548767	NM_138961.3(ESAM):c.63T>G (p.Ser21Arg)	ESAM, ESAM-AS1 (S21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391522	NM_138961.3(ESAM):c.712A>G (p.Thr238Ala)	ESAM, LOC112061819 (T238A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354944	NM_138961.3(ESAM):c.239A>G (p.Lys80Arg)	ESAM, LOC130007001 (K80R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249991	NM_138961.3(ESAM):c.14C>T (p.Pro5Leu)	ESAM, ESAM-AS1 (P5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810272	NM_138961.3(ESAM):c.35T>A (p.Leu12Ter)	ESAM, ESAM-AS1 (L12*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic

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