Related gene-specific medical variations for Gene (Select 259217) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275445	NM_001242699.2(ENO4):c.162C>A (p.His54Gln)	ENO4, HSPA12A (H54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107259	NM_025015.3(HSPA12A):c.1348G>A (p.Ala450Thr)	HSPA12A, LOC113939914 (A450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606812	NM_001242699.2(ENO4):c.152T>C (p.Val51Ala)	HSPA12A, ENO4 (V51A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2510906	NM_025015.3(HSPA12A):c.1371T>A (p.Asp457Glu)	HSPA12A, LOC113939914 (D457E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399293	NM_025015.3(HSPA12A):c.1349C>T (p.Ala450Val)	HSPA12A, LOC113939914 (A450V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391230	NM_001242699.2(ENO4):c.150C>A (p.Asp50Glu)	ENO4, HSPA12A (D50E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303831	NM_001242699.2(ENO4):c.65A>G (p.Gln22Arg)	ENO4, HSPA12A (Q22R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253853	NM_001242699.2(ENO4):c.112G>A (p.Glu38Lys)	ENO4, HSPA12A (E38K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2235715	NM_001242699.2(ENO4):c.41G>C (p.Arg14Thr)	ENO4, HSPA12A (R14T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance