"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "VPS13D" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1982603	NM_015378.4(VPS13D):c.14T>C (p.Leu5Pro)	VPS13D (L5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2990803	NM_015378.4(VPS13D):c.36C>T (p.Thr12=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937710	NM_015378.4(VPS13D):c.98-14G>C	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2155278	NM_015378.4(VPS13D):c.105T>C (p.Val35=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063614	NM_015378.4(VPS13D):c.123A>G (p.Pro41=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1360189	NM_015378.4(VPS13D):c.134A>G (p.Asp45Gly)	VPS13D (D45G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672740	NM_015378.4(VPS13D):c.168C>G (p.Val56=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981034	NM_015378.4(VPS13D):c.170A>T (p.Lys57Ile)	VPS13D (K57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711833	NM_015378.4(VPS13D):c.175+11C>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903513	NM_015378.4(VPS13D):c.175+13A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913123	NM_015378.4(VPS13D):c.176-17T>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927487	NM_015378.4(VPS13D):c.176-12T>C	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893066	NM_015378.4(VPS13D):c.176-8_176-6del	VPS13D	Deletion (intron variant)	not provided	GLikely benign
Select item 1070403	NM_015378.4(VPS13D):c.229_232dup (p.Trp78fs)	VPS13D (W78fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2193205	NM_015378.4(VPS13D):c.242C>T (p.Ser81Phe)	VPS13D (S81F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933113	NM_015378.4(VPS13D):c.251G>C (p.Ser84Thr)	VPS13D (S84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418460	NM_015378.4(VPS13D):c.252C>G (p.Ser84Arg)	VPS13D (S84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933177	NM_015378.4(VPS13D):c.276G>A (p.Glu92=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1806727	NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)	VPS13D (E92D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029392	NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)	VPS13D (N98S)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1928326	NM_015378.4(VPS13D):c.296A>G (p.Asp99Gly)	VPS13D (D99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801378	NM_015378.4(VPS13D):c.306G>A (p.Glu102=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937324	NM_015378.4(VPS13D):c.373C>T (p.Arg125Cys)	VPS13D (R125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923815	NM_015378.4(VPS13D):c.374G>A (p.Arg125His)	VPS13D (R125H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912456	NM_015378.4(VPS13D):c.411C>T (p.Thr137=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767653	NM_015378.4(VPS13D):c.417C>T (p.Ser139=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2083342	NM_015378.4(VPS13D):c.418G>A (p.Val140Ile)	VPS13D (V140I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788353	NM_015378.4(VPS13D):c.423T>C (p.Val141=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007779	NM_015378.4(VPS13D):c.447+13G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931768	NM_015378.4(VPS13D):c.447+15C>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546045	NM_015378.4(VPS13D):c.447+20A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 806069	NM_015378.4(VPS13D):c.459A>C (p.Gln153His)	VPS13D (Q153H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2154769	NM_015378.4(VPS13D):c.494A>G (p.Asn165Ser)	VPS13D (N165S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980068	NM_015378.4(VPS13D):c.497C>T (p.Pro166Leu)	VPS13D (P166L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692323	NM_015378.4(VPS13D):c.518G>A (p.Gly173Asp)	VPS13D (G173D)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +2 more	GUncertain significance
Select item 789690	NM_015378.4(VPS13D):c.531G>C (p.Lys177Asn)	VPS13D (K177N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1989959	NM_015378.4(VPS13D):c.546A>G (p.Gln182=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192099	NM_015378.4(VPS13D):c.564+8T>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988322	NM_015378.4(VPS13D):c.565-17T>C	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993025	NM_015378.4(VPS13D):c.613A>C (p.Ile205Leu)	VPS13D (I205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541963	NM_015378.4(VPS13D):c.613A>G (p.Ile205Val)	VPS13D (I205V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1029395	NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)	VPS13D (I205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2016805	NM_015378.4(VPS13D):c.623A>T (p.Asp208Val)	VPS13D (D208V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158084	NM_015378.4(VPS13D):c.627C>T (p.Val209=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914859	NM_015378.4(VPS13D):c.639A>G (p.Leu213=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472447	NM_015378.4(VPS13D):c.653C>T (p.Pro218Leu)	VPS13D (P218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161860	NM_015378.4(VPS13D):c.669+4C>T	VPS13D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915792	NM_015378.4(VPS13D):c.669+10C>T	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904221	NM_015378.4(VPS13D):c.669+11G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907982	NM_015378.4(VPS13D):c.669+18A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266251	NM_015378.4(VPS13D):c.670-19G>T	VPS13D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2101006	NM_015378.4(VPS13D):c.670-5C>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021196	NM_015378.4(VPS13D):c.672G>A (p.Glu224=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784931	NM_015378.4(VPS13D):c.673G>A (p.Ala225Thr)	VPS13D (A225T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1895810	NM_015378.4(VPS13D):c.686G>A (p.Ser229Asn)	VPS13D (S229N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2175874	NM_015378.4(VPS13D):c.693G>A (p.Glu231=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642034	NM_015378.4(VPS13D):c.711C>T (p.Tyr237=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716268	NM_015378.4(VPS13D):c.712G>A (p.Val238Ile)	VPS13D (V238I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2984811	NM_015378.4(VPS13D):c.723T>C (p.Pro241=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825921	NM_015378.4(VPS13D):c.732A>C (p.Ala244=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963004	NM_015378.4(VPS13D):c.763A>G (p.Lys255Glu)	VPS13D (K255E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941236	NM_015378.4(VPS13D):c.793A>G (p.Ile265Val)	VPS13D (I265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897802	NM_015378.4(VPS13D):c.795T>G (p.Ile265Met)	VPS13D (I265M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2100056	NM_015378.4(VPS13D):c.799T>A (p.Cys267Ser)	VPS13D (C267S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130599	NM_015378.4(VPS13D):c.825C>G (p.Pro275=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060641	NM_015378.4(VPS13D):c.828G>A (p.Leu276=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825115	NM_015378.4(VPS13D):c.840+8C>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110959	NM_015378.4(VPS13D):c.841-6A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028769	NM_015378.4(VPS13D):c.844C>T (p.Gln282Ter)	VPS13D (Q282*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1631294	NM_015378.4(VPS13D):c.849C>T (p.Tyr283=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1956703	NM_015378.4(VPS13D):c.850C>T (p.Arg284Trp)	VPS13D (R284W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093407	NM_015378.4(VPS13D):c.858C>T (p.Ile286=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895773	NM_015378.4(VPS13D):c.871A>G (p.Lys291Glu)	VPS13D (K291E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2165598	NM_015378.4(VPS13D):c.879G>A (p.Leu293=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2024616	NM_015378.4(VPS13D):c.885A>G (p.Arg295=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417978	NM_015378.4(VPS13D):c.910A>T (p.Arg304Trp)	VPS13D (R304W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726963	NM_015378.4(VPS13D):c.918A>G (p.Lys306=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2011411	NM_015378.4(VPS13D):c.927G>A (p.Val309=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2995228	NM_015378.4(VPS13D):c.941+15G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928469	NM_015378.4(VPS13D):c.942-7A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 933227	NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter)	VPS13D (R316*)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1600894	NM_015378.4(VPS13D):c.951A>G (p.Glu317=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1559676	NM_015378.4(VPS13D):c.975T>C (p.Ala325=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1596131	NM_015378.4(VPS13D):c.977A>G (p.Asn326Ser)	VPS13D (N326S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1443281	NM_015378.4(VPS13D):c.994G>C (p.Glu332Gln)	VPS13D (E332Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050117	NM_015378.4(VPS13D):c.1006C>T (p.Arg336Cys)	VPS13D (R336C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049485	NM_015378.4(VPS13D):c.1007G>A (p.Arg336His)	VPS13D (R336H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1441394	NM_015378.4(VPS13D):c.1018G>T (p.Asp340Tyr)	VPS13D (D340Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142688	NM_015378.4(VPS13D):c.1019A>G (p.Asp340Gly)	VPS13D (D340G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573946	NM_015378.4(VPS13D):c.1029G>A (p.Leu343=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1704170	NM_015378.4(VPS13D):c.1033C>T (p.Arg345Cys)	VPS13D (R345C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904861	NM_015378.4(VPS13D):c.1034G>A (p.Arg345His)	VPS13D (R345H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187888	NM_015378.4(VPS13D):c.1035C>T (p.Arg345=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938926	NM_015378.4(VPS13D):c.1039C>T (p.Arg347Cys)	VPS13D (R347C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1441793	NM_015378.4(VPS13D):c.1043A>G (p.Asp348Gly)	VPS13D (D348G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973014	NM_015378.4(VPS13D):c.1048G>A (p.Val350Ile)	VPS13D (V350I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524988	NM_015378.4(VPS13D):c.1058C>G (p.Thr353Ser)	VPS13D (T353S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956220	NM_015378.4(VPS13D):c.1061A>T (p.Asp354Val)	VPS13D (D354V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020066	NM_015378.4(VPS13D):c.1068T>C (p.Tyr356=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970057	NM_015378.4(VPS13D):c.1073A>T (p.Asn358Ile)	VPS13D (N358I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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