Related gene-specific medical variations for Gene (Select 7784) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068101	NM_001110354.2(ZP3):c.581A>T (p.Asp194Val)	ZP3 (D143V +1 more)	Single nucleotide variant (missense variant)	Oocyte maturation defect 3	GUncertain significance
Select item 2616798	NM_080744.2(SSC4D):c.243C>A (p.Ser81Arg)	SSC4D, ZP3 (S81R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607660	NM_080744.2(SSC4D):c.539T>C (p.Leu180Pro)	SSC4D, ZP3 (L180P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2599488	NM_080744.2(SSC4D):c.79G>A (p.Ala27Thr)	SSC4D, ZP3 (A27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2491072	NM_080744.2(SSC4D):c.56G>T (p.Gly19Val)	SSC4D, ZP3 (G19V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486570	NM_080744.2(SSC4D):c.671C>G (p.Ala224Gly)	ZP3, LOC129998700 +1 more (A224G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460770	NM_080744.2(SSC4D):c.322C>T (p.Pro108Ser)	SSC4D, ZP3 (P108S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408420	NM_080744.2(SSC4D):c.698G>A (p.Gly233Glu)	LOC129998700, SSC4D +1 more (G233E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324968	NM_080744.2(SSC4D):c.356C>T (p.Pro119Leu)	SSC4D, ZP3 (P119L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320448	NM_080744.2(SSC4D):c.63G>T (p.Arg21Ser)	SSC4D, ZP3 (R21S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269974	NM_080744.2(SSC4D):c.341G>T (p.Gly114Val)	SSC4D, ZP3 (G114V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258516	NM_080744.2(SSC4D):c.419G>A (p.Arg140His)	SSC4D, ZP3 (R140H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249141	NM_080744.2(SSC4D):c.712G>C (p.Ala238Pro)	SSC4D, ZP3 (A238P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249140	NM_080744.2(SSC4D):c.709G>C (p.Ala237Pro)	SSC4D, ZP3 (A237P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234217	NM_080744.2(SSC4D):c.319G>A (p.Val107Met)	SSC4D, ZP3 (V107M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222744	NM_080744.2(SSC4D):c.707T>G (p.Met236Arg)	SSC4D, ZP3 (M236R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance