Related gene-specific medical variations for Gene (Select 55250) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360641	NM_018255.4(ELP2):c.1853C>T (p.Thr618Met)	ELP2 (T469M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067957	NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)	ELP2 (C338fs +8 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 3065744	NM_018255.4(ELP2):c.2438A>T (p.Asp813Val)	ELP2 (D664V +8 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2573075	NM_018255.4(ELP2):c.2237del (p.Cys746fs)	ELP2 (C597fs +8 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic
Select item 2441215	NM_018255.4(ELP2):c.445G>T (p.Val149Leu)	ELP2 (G149C +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 2441214	NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)	ELP2 (W492* +8 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 58	GUncertain significance
Select item 1992333	NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)	ELP2 (V625fs +8 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 58	GLikely pathogenic

ClinVar