"Ambry Genetics"[submitter] AND "SPOCK3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2321244	NM_001040159.2(SPOCK3):c.1280A>G (p.Asp427Gly)	SPOCK3 (D332G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527629	NM_001040159.2(SPOCK3):c.1257A>C (p.Glu419Asp)	SPOCK3 (E326D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212991	NM_001040159.2(SPOCK3):c.1214T>C (p.Ile405Thr)	SPOCK3 (I288T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621321	NM_001040159.2(SPOCK3):c.1148T>A (p.Ile383Asn)	SPOCK3 (I294N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531247	NM_001040159.2(SPOCK3):c.1124C>T (p.Ala375Val)	SPOCK3 (A286V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591951	NM_001040159.2(SPOCK3):c.971G>A (p.Arg324Gln)	SPOCK3 (R229Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514140	NM_001040159.2(SPOCK3):c.933C>A (p.Asp311Glu)	SPOCK3 (D314E +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386801	NM_001040159.2(SPOCK3):c.638G>C (p.Trp213Ser)	SPOCK3 (W120S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305164	NM_001040159.2(SPOCK3):c.394A>G (p.Ile132Val)	SPOCK3 (I43V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284588	NM_001040159.2(SPOCK3):c.334C>T (p.Arg112Trp)	SPOCK3 (R112W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258018	NM_001040159.2(SPOCK3):c.299C>T (p.Ala100Val)	SPOCK3 (A103V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404767	NM_001040159.2(SPOCK3):c.209G>T (p.Trp70Leu)	SPOCK3 (W73L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275102	NM_001040159.2(SPOCK3):c.26G>A (p.Cys9Tyr)	SPOCK3 (C9Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance