Related gene-specific medical variations for Gene (Select 7789) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539946	NM_007156.5(ZXDA):c.758G>A (p.Gly253Asp)	LOC130068358, ZXDA (G253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494311	NM_007156.5(ZXDA):c.710C>T (p.Pro237Leu)	LOC130068358, ZXDA (P237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473159	NM_007156.5(ZXDA):c.748G>T (p.Ala250Ser)	LOC130068358, ZXDA (A250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388825	NM_007156.5(ZXDA):c.743T>C (p.Leu248Pro)	LOC130068358, ZXDA (L248P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369411	NM_007156.5(ZXDA):c.624A>C (p.Gln208His)	LOC130068358, ZXDA (Q208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284136	NM_007156.5(ZXDA):c.617C>T (p.Ala206Val)	LOC130068358, ZXDA (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262317	NM_007156.5(ZXDA):c.736G>A (p.Glu246Lys)	LOC130068358, ZXDA (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974705	NM_007156.5(ZXDA):c.403_404del (p.Cys135fs)	ZXDA (C135fs)	Deletion (frameshift variant)	Fraser syndrome 3	GUncertain significance
Select item 816352	GRCh37/hg19 Xp11.21-11.1(chrX:57742086-58281332)x2	ZXDA	Copy number gain	not provided	GLikely benign
Select item 443116	GRCh37/hg19 Xp11.21-11.1(chrX:57667805-58527164)x3	ZXDA	Copy number gain	See cases	GLikely benign