Related gene-specific medical variations for Gene (Select 57623) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334330	NM_020863.4(ZFAT):c.2358A>T (p.Lys786Asn)	ZFAT, ZFAT-AS1 (K786N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3334319	NM_020863.4(ZFAT):c.1384G>A (p.Val462Ile)	LOC130001238, ZFAT (V450I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3192879	NM_020863.4(ZFAT):c.2410G>A (p.Gly804Ser)	ZFAT, ZFAT-AS1 (G742S +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 3192874	NM_020863.4(ZFAT):c.1487A>T (p.Gln496Leu)	LOC130001238, ZFAT (Q484L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192873	NM_020863.4(ZFAT):c.1424C>T (p.Thr475Ile)	LOC130001238, ZFAT (T413I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192872	NM_020863.4(ZFAT):c.1390C>T (p.Arg464Cys)	LOC130001238, ZFAT (R402C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192871	NM_020863.4(ZFAT):c.1370T>C (p.Val457Ala)	LOC130001238, ZFAT (V395A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064173	NM_020863.4(ZFAT):c.1199G>A (p.Arg400Gln)	ZFAT (R338Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune thyroid disease, susceptibility to, 3	GUncertain significance
Select item 2552681	NM_020863.4(ZFAT):c.1475G>T (p.Ser492Ile)	LOC130001238, ZFAT (S492I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479998	NM_020863.4(ZFAT):c.1427A>G (p.His476Arg)	LOC130001238, ZFAT (H464R +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 2354925	NM_020863.4(ZFAT):c.1390C>G (p.Arg464Gly)	LOC130001238, ZFAT (R402G +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 2315895	NM_020863.4(ZFAT):c.2923G>T (p.Ala975Ser)	LOC130001234, ZFAT (A913S +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 1050443	NM_020863.4(ZFAT):c.2906C>T (p.Thr969Met)	LOC130001234, ZFAT (T907M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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
Select item 403619	NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)	LOC130001238, ZFAT (S458C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 23