Related gene-specific medical variations for Gene (Select 55194) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276643	NM_001304762.2(EVA1B):c.160G>A (p.Ala54Thr)	EVA1B, SH3D21 (A54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276642	NM_001304762.2(EVA1B):c.160G>C (p.Ala54Pro)	EVA1B, SH3D21 (A54P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090794	NM_001304762.2(EVA1B):c.49G>A (p.Ala17Thr)	EVA1B, SH3D21 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090793	NM_001304762.2(EVA1B):c.487C>T (p.His163Tyr)	EVA1B, SH3D21 (H163Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090792	NM_001304762.2(EVA1B):c.443C>T (p.Thr148Met)	EVA1B, SH3D21 (T148M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529133	NM_001304762.2(EVA1B):c.383G>C (p.Arg128Pro)	EVA1B, SH3D21 (R128P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508839	NM_001304762.2(EVA1B):c.272C>T (p.Pro91Leu)	EVA1B, SH3D21 (P91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460701	NM_001304762.2(EVA1B):c.263G>C (p.Arg88Pro)	EVA1B, SH3D21 (R88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402315	NM_001304762.2(EVA1B):c.246G>C (p.Glu82Asp)	EVA1B, SH3D21 (E82D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394455	NM_001304762.2(EVA1B):c.200A>C (p.Asp67Ala)	EVA1B, SH3D21 (D67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312530	NM_001304762.2(EVA1B):c.170C>T (p.Pro57Leu)	EVA1B, SH3D21 (P57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305027	NM_001304762.2(EVA1B):c.217C>G (p.Leu73Val)	EVA1B, SH3D21 (L73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273137	NM_001304762.2(EVA1B):c.413C>A (p.Thr138Asn)	EVA1B, SH3D21 (T138N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229747	NM_001304762.2(EVA1B):c.191A>C (p.Gln64Pro)	EVA1B, SH3D21 (Q64P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign