VPS13D[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 2633845	NM_015378.4(VPS13D):c.10G>A (p.Gly4Ser)	VPS13D (G4S)	Single nucleotide variant (missense variant)	VPS13D-related disorder	GUncertain significance
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 2576812	NM_015378.4(VPS13D):c.17T>C (p.Val6Ala)	VPS13D (V6A)	Single nucleotide variant (missense variant)	not provided	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 2212093	NM_015378.4(VPS13D):c.56A>G (p.Asn19Ser)	VPS13D (N19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188827	NM_015378.4(VPS13D):c.91C>T (p.Leu31Phe)	VPS13D (L31F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229178	NM_015378.4(VPS13D):c.97G>C (p.Gly33Arg)	VPS13D (G33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1243262	NM_015378.4(VPS13D):c.98-183G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GBenign
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)	VPS13D-related disorder +1 more	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 3048431	NM_015378.4(VPS13D):c.183T>C (p.Ile61=)	VPS13D	Single nucleotide variant (synonymous variant)	VPS13D-related disorder	GLikely benign
Select item 2504147	NM_015378.4(VPS13D):c.196C>T (p.Leu66Phe)	VPS13D (L66F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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)	not provided +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 3188806	NM_015378.4(VPS13D):c.334G>A (p.Ala112Thr)	VPS13D (A112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554024	NM_015378.4(VPS13D):c.346G>T (p.Ala116Ser)	VPS13D (A116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	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 2469869	NM_015378.4(VPS13D):c.427A>G (p.Arg143Gly)	VPS13D (R143G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 1308272	NM_015378.4(VPS13D):c.477T>A (p.Phe159Leu)	VPS13D (F159L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3188811	NM_015378.4(VPS13D):c.512C>G (p.Ala171Gly)	VPS13D (A171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 692323	NM_015378.4(VPS13D):c.518G>A (p.Gly173Asp)	VPS13D (G173D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1029394	NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)	VPS13D (K177R)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 789690	NM_015378.4(VPS13D):c.531G>C (p.Lys177Asn)	VPS13D (K177N)	Single nucleotide variant (missense variant)	VPS13D-related disorder +1 more	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 2269945	NM_015378.4(VPS13D):c.553G>A (p.Val185Met)	VPS13D (V185M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2273884	NM_015378.4(VPS13D):c.591A>C (p.Gln197His)	VPS13D (Q197H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438540	NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)	VPS13D (A201G)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
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)	VPS13D-related disorder +1 more	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 2307956	NM_015378.4(VPS13D):c.623A>G (p.Asp208Gly)	VPS13D (D208G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1334954	NM_015378.4(VPS13D):c.628G>A (p.Asp210Asn)	VPS13D (D210N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1914859	NM_015378.4(VPS13D):c.639A>G (p.Leu213=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188815	NM_015378.4(VPS13D):c.644G>A (p.Gly215Glu)	VPS13D (G215E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 +1 more	GBenign
Select item 1315488	NM_015378.4(VPS13D):c.676A>G (p.Met226Val)	VPS13D (M226V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473514	NM_015378.4(VPS13D):c.678G>A (p.Met226Ile)	VPS13D (M226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1895810	NM_015378.4(VPS13D):c.686G>A (p.Ser229Asn)	VPS13D (S229N)	Single nucleotide variant (missense variant)	not provided +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 2403644	NM_015378.4(VPS13D):c.698G>A (p.Arg233His)	VPS13D (R233H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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