Related gene-specific medical variations for Gene (Select 79541) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205009	NM_030908.2(OR2A4):c.899T>C (p.Leu300Ser)	ENPP3, OR2A4 (L300S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205008	NM_030908.2(OR2A4):c.86T>C (p.Leu29Pro)	ENPP3, OR2A4 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205007	NM_030908.2(OR2A4):c.541T>G (p.Leu181Val)	ENPP3, OR2A4 (L181V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205006	NM_030908.2(OR2A4):c.52G>A (p.Val18Ile)	ENPP3, OR2A4 (V18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205005	NM_030908.2(OR2A4):c.281C>T (p.Ala94Val)	OR2A4, ENPP3 (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566823	NM_030908.2(OR2A4):c.583G>A (p.Glu195Lys)	ENPP3, OR2A4 (E195K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495459	NM_030908.2(OR2A4):c.274T>A (p.Ser92Thr)	ENPP3, OR2A4 (S92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387109	NM_030908.2(OR2A4):c.803A>G (p.Glu268Gly)	ENPP3, OR2A4 (E268G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364576	NM_030908.2(OR2A4):c.17C>T (p.Thr6Ile)	ENPP3, OR2A4 (T6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344609	NM_030908.2(OR2A4):c.748G>T (p.Val250Phe)	ENPP3, OR2A4 (V250F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296451	NM_030908.2(OR2A4):c.553A>G (p.Lys185Glu)	ENPP3, OR2A4 (K185E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283357	NM_030908.2(OR2A4):c.163C>T (p.His55Tyr)	ENPP3, OR2A4 (H55Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282580	NM_030908.2(OR2A4):c.254T>G (p.Leu85Arg)	ENPP3, OR2A4 (L85R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274853	NM_030908.2(OR2A4):c.705A>T (p.Lys235Asn)	ENPP3, OR2A4 (K235N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance