Related gene-specific medical variations for Gene (Select 130001237) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334329	NM_020863.4(ZFAT):c.1942C>T (p.His648Tyr)	LOC130001237, ZFAT (H586Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192878	NM_020863.4(ZFAT):c.1943A>T (p.His648Leu)	LOC130001237, ZFAT (H648L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192877	NM_020863.4(ZFAT):c.1852A>G (p.Met618Val)	LOC130001237, ZFAT (M556V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406407	NM_020863.4(ZFAT):c.1702G>A (p.Glu568Lys)	LOC130001237, ZFAT (E568K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348852	NM_020863.4(ZFAT):c.1732G>A (p.Glu578Lys)	LOC130001237, ZFAT (E516K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310866	NM_020863.4(ZFAT):c.1704A>C (p.Glu568Asp)	LOC130001237, ZFAT (E568D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289469	NM_020863.4(ZFAT):c.1874A>G (p.Gln625Arg)	LOC130001237, ZFAT (Q613R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226811	NM_020863.4(ZFAT):c.1793T>C (p.Leu598Ser)	LOC130001237, ZFAT (L536S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725598	NM_020863.4(ZFAT):c.1741G>A (p.Val581Met)	LOC130001237, ZFAT (V581M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign