"Ambry Genetics"[submitter] AND "SHPK"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2310282	NM_013276.4(SHPK):c.1322A>G (p.Lys441Arg)	SHPK (K441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161873	NM_013276.4(SHPK):c.1254G>T (p.Gln418His)	SHPK (Q418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2141874	NM_013276.4(SHPK):c.1244C>A (p.Pro415Gln)	SHPK (P415Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440640	NM_013276.4(SHPK):c.1192G>A (p.Val398Met)	SHPK (V398M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1906803	NM_013276.4(SHPK):c.1174G>A (p.Asp392Asn)	SHPK (D392N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2204956	NM_013276.4(SHPK):c.1130A>G (p.His377Arg)	SHPK (H377R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3161872	NM_013276.4(SHPK):c.1087G>T (p.Asp363Tyr)	SHPK (D363Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203232	NM_013276.4(SHPK):c.974A>G (p.Asn325Ser)	SHPK (N325S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3161878	NM_013276.4(SHPK):c.952G>C (p.Ala318Pro)	SHPK (A318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161877	NM_013276.4(SHPK):c.937A>T (p.Thr313Ser)	SHPK (T313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161875	NM_013276.4(SHPK):c.752C>T (p.Thr251Met)	SHPK (T251M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1495707	NM_013276.4(SHPK):c.749G>A (p.Gly250Glu)	SHPK (G250E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1501112	NM_013276.4(SHPK):c.691G>A (p.Ala231Thr)	SHPK (A231T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1473760	NM_013276.4(SHPK):c.659C>T (p.Ser220Leu)	SHPK (S220L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1721048	NM_013276.4(SHPK):c.655A>G (p.Ser219Gly)	SHPK (S219G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2261058	NM_013276.4(SHPK):c.620C>T (p.Thr207Met)	SHPK (T207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239644	NM_013276.4(SHPK):c.535C>T (p.His179Tyr)	SHPK (H179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2078058	NM_013276.4(SHPK):c.527G>C (p.Gly176Ala)	SHPK (G176A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1422531	NM_013276.4(SHPK):c.493C>T (p.Arg165Cys)	LOC126862464, SHPK (R165C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1426288	NM_013276.4(SHPK):c.452C>T (p.Thr151Met)	LOC126862464, SHPK (T151M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2613340	NM_013276.4(SHPK):c.422C>T (p.Pro141Leu)	LOC126862464, SHPK (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621191	NM_013276.4(SHPK):c.392G>A (p.Arg131Gln)	LOC126862464, SHPK (R131Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1895484	NM_013276.4(SHPK):c.382C>A (p.Gln128Lys)	LOC126862464, SHPK (Q128K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2332573	NM_013276.4(SHPK):c.352C>A (p.Pro118Thr)	LOC126862464, SHPK (P118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1513176	NM_013276.4(SHPK):c.349G>C (p.Glu117Gln)	LOC126862464, SHPK (E117Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192670	NM_013276.4(SHPK):c.338C>T (p.Thr113Ile)	LOC126862464, SHPK (T113I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3161874	NM_013276.4(SHPK):c.302C>T (p.Thr101Ile)	SHPK (T101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464514	NM_013276.4(SHPK):c.250G>A (p.Val84Ile)	SHPK (V84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1903992	NM_013276.4(SHPK):c.245G>A (p.Arg82Gln)	SHPK (R82Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1428174	NM_013276.4(SHPK):c.244C>T (p.Arg82Trp)	SHPK (R82W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2070477	NM_013276.4(SHPK):c.217C>G (p.Leu73Val)	SHPK (L73V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2146931	NM_013276.4(SHPK):c.203C>G (p.Ala68Gly)	SHPK (A68G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3161876	NM_013276.4(SHPK):c.77C>G (p.Pro26Arg)	SHPK (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250967	NM_013276.4(SHPK):c.64C>G (p.Leu22Val)	SHPK (L22V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1349135	NM_013276.4(SHPK):c.55G>C (p.Ala19Pro)	SHPK (A19P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2258229	NM_013276.4(SHPK):c.29T>C (p.Ile10Thr)	SHPK (I10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 36