Related gene-specific medical variations for Gene (Select 387712) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3162024	NM_001127211.3(SHTN1):c.1451G>A (p.Arg484Lys)	ENO4, LOC126861056 +1 more (R424K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606812	NM_001242699.2(ENO4):c.152T>C (p.Val51Ala)	ENO4, HSPA12A (V51A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2542668	NM_001242699.2(ENO4):c.1837G>C (p.Gly613Arg)	ENO4, SHTN1 (G613R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533797	NM_001127211.3(SHTN1):c.1408C>A (p.Pro470Thr)	ENO4, LOC126861056 +1 more (P410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2512547	NM_001242699.2(ENO4):c.1745T>C (p.Phe582Ser)	ENO4, SHTN1 (F582S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481619	NM_001127211.3(SHTN1):c.1612C>T (p.Pro538Ser)	ENO4, SHTN1 (P478S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473132	NM_001127211.3(SHTN1):c.1633C>T (p.Arg545Cys)	ENO4, SHTN1 (R545C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2321869	NM_001242699.2(ENO4):c.1786C>T (p.Leu596Phe)	ENO4, SHTN1 (L596F)	Single nucleotide variant (missense 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 2253730	NM_001127211.3(SHTN1):c.1618C>T (p.Pro540Ser)	ENO4, SHTN1 (P480S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250555	NM_001127211.3(SHTN1):c.1456G>T (p.Val486Leu)	ENO4, LOC126861056 +1 more (V486L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240210	NM_001127211.3(SHTN1):c.1667C>T (p.Thr556Met)	ENO4, SHTN1 (T496M +1 more)	Single nucleotide variant (missense 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
Select item 768393	NM_001127211.3(SHTN1):c.1317G>A (p.Ser439=)	ENO4, SHTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign