FXYD3[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2255762	NM_005971.4(FXYD3):c.-15+983G>C	FXYD3 (G13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601319	NM_005971.4(FXYD3):c.-14-192C>T	FXYD3 (P26L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2226044	NM_005971.4(FXYD3):c.-14-138A>C	FXYD3 (Q44P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097564	NM_005971.4(FXYD3):c.-14-135G>A	FXYD3 (R45Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3097565	NM_005971.4(FXYD3):c.-14-121C>T	FXYD3 (P50S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2599068	NM_005971.4(FXYD3):c.-14-114C>T	FXYD3 (P52L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2398089	NM_005971.4(FXYD3):c.-8G>T	FXYD3 (R27L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350892	NM_005971.4(FXYD3):c.-5C>T	FXYD3 (S28F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097566	NM_005971.4(FXYD3):c.44T>C (p.Phe15Ser)	FXYD3 (F44S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522362	NM_005971.4(FXYD3):c.58G>A (p.Ala20Thr)	FXYD3 (A77T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334095	NM_005971.4(FXYD3):c.83G>T (p.Ser28Ile)	FXYD3 (S28I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551193	NM_005971.4(FXYD3):c.115G>T (p.Val39Phe)	FXYD3 (V68F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489126	NM_005971.4(FXYD3):c.139G>A (p.Val47Ile)	FXYD3 (V104I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340002	NM_005971.4(FXYD3):c.214C>T (p.His72Tyr)	FXYD3 (H101Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance