Related gene-specific medical variations for Gene (Select 136853) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170317	NM_080744.2(SSC4D):c.54G>C (p.Trp18Cys)	SSC4D, ZP3 (W18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170316	NM_080744.2(SSC4D):c.222G>A (p.Met74Ile)	SSC4D, ZP3 (M74I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616798	NM_080744.2(SSC4D):c.243C>A (p.Ser81Arg)	SSC4D, ZP3 (S81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607660	NM_080744.2(SSC4D):c.539T>C (p.Leu180Pro)	SSC4D, ZP3 (L180P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2607566	NM_080744.2(SSC4D):c.1061G>C (p.Arg354Pro)	LOC129998698, SSC4D (R354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599488	NM_080744.2(SSC4D):c.79G>A (p.Ala27Thr)	SSC4D, ZP3 (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2491072	NM_080744.2(SSC4D):c.56G>T (p.Gly19Val)	SSC4D, ZP3 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486570	NM_080744.2(SSC4D):c.671C>G (p.Ala224Gly)	LOC129998700, SSC4D +1 more (A224G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460770	NM_080744.2(SSC4D):c.322C>T (p.Pro108Ser)	SSC4D, ZP3 (P108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409995	NM_080744.2(SSC4D):c.1153G>A (p.Ala385Thr)	LOC129998698, SSC4D (A385T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2400984	NM_080744.2(SSC4D):c.1023T>G (p.Ser341Arg)	LOC129998698, SSC4D (S341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343986	NM_080744.2(SSC4D):c.1001C>T (p.Ala334Val)	LOC129998698, SSC4D (A334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338019	NM_080744.2(SSC4D):c.1067G>A (p.Arg356His)	LOC129998698, SSC4D (R356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328599	NM_080744.2(SSC4D):c.1063G>C (p.Gly355Arg)	LOC129998698, SSC4D (G355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325673	NM_080744.2(SSC4D):c.1295A>G (p.Asn432Ser)	LOC129998698, SSC4D (N432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324968	NM_080744.2(SSC4D):c.356C>T (p.Pro119Leu)	SSC4D, ZP3 (P119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320448	NM_080744.2(SSC4D):c.63G>T (p.Arg21Ser)	SSC4D, ZP3 (R21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284021	NM_080744.2(SSC4D):c.1273C>T (p.His425Tyr)	LOC129998698, SSC4D (H425Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269974	NM_080744.2(SSC4D):c.341G>T (p.Gly114Val)	SSC4D, ZP3 (G114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258516	NM_080744.2(SSC4D):c.419G>A (p.Arg140His)	SSC4D, ZP3 (R140H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249141	NM_080744.2(SSC4D):c.712G>C (p.Ala238Pro)	SSC4D, ZP3 (A238P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249140	NM_080744.2(SSC4D):c.709G>C (p.Ala237Pro)	SSC4D, ZP3 (A237P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245150	NM_080744.2(SSC4D):c.1000G>A (p.Ala334Thr)	LOC129998698, SSC4D (A334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234217	NM_080744.2(SSC4D):c.319G>A (p.Val107Met)	SSC4D, ZP3 (V107M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222744	NM_080744.2(SSC4D):c.707T>G (p.Met236Arg)	SSC4D, ZP3 (M236R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 26