ClinVar for Gene (Select 55187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188831	NM_015378.4(VPS13D):c.947G>A (p.Arg316Gln)	VPS13D (R316Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188830	NM_015378.4(VPS13D):c.9469T>A (p.Tyr3157Asn)	VPS13D (Y3132N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188829	NM_015378.4(VPS13D):c.9407A>G (p.Asp3136Gly)	VPS13D (D3136G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188828	NM_015378.4(VPS13D):c.9350C>T (p.Thr3117Ile)	VPS13D (T3092I +1 more)	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 3188826	NM_015378.4(VPS13D):c.9127C>T (p.Arg3043Trp)	VPS13D (R3043W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188825	NM_015378.4(VPS13D):c.8873A>G (p.Lys2958Arg)	VPS13D (K2933R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188824	NM_015378.4(VPS13D):c.832C>T (p.Leu278Phe)	VPS13D (L278F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188823	NM_015378.4(VPS13D):c.8230C>G (p.Pro2744Ala)	VPS13D (P2744A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188822	NM_015378.4(VPS13D):c.8120A>G (p.Lys2707Arg)	VPS13D (K2707R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188821	NM_015378.4(VPS13D):c.7956G>T (p.Met2652Ile)	VPS13D (M2652I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188820	NM_015378.4(VPS13D):c.7816G>T (p.Ala2606Ser)	VPS13D (A2606S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188819	NM_015378.4(VPS13D):c.7576C>T (p.His2526Tyr)	VPS13D (H2526Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188818	NM_015378.4(VPS13D):c.7487T>C (p.Val2496Ala)	VPS13D (V2496A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188817	NM_015378.4(VPS13D):c.7465A>G (p.Ile2489Val)	VPS13D (I2489V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188816	NM_015378.4(VPS13D):c.6968A>C (p.Glu2323Ala)	VPS13D (E2323A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3188813	NM_015378.4(VPS13D):c.5861G>A (p.Arg1954Gln)	VPS13D (R1954Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188812	NM_015378.4(VPS13D):c.5498T>C (p.Phe1833Ser)	VPS13D (F1833S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3188810	NM_015378.4(VPS13D):c.4682A>G (p.Tyr1561Cys)	VPS13D (Y1561C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188809	NM_015378.4(VPS13D):c.4574T>C (p.Ile1525Thr)	VPS13D (I1525T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188808	NM_015378.4(VPS13D):c.3917C>G (p.Ser1306Cys)	VPS13D (S1306C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3188805	NM_015378.4(VPS13D):c.3041C>G (p.Ala1014Gly)	VPS13D (A1014G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188804	NM_015378.4(VPS13D):c.2820G>T (p.Leu940Phe)	VPS13D (L940F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188803	NM_015378.4(VPS13D):c.1625G>A (p.Arg542Gln)	VPS13D (R542Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188802	NM_015378.4(VPS13D):c.1495C>G (p.Leu499Val)	VPS13D (L499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188801	NM_015378.4(VPS13D):c.1475G>A (p.Arg492Gln)	VPS13D (R492Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188800	NM_015378.4(VPS13D):c.1420G>A (p.Glu474Lys)	VPS13D (E474K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188799	NM_015378.4(VPS13D):c.12974A>G (p.Lys4325Arg)	VPS13D (K4325R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188798	NM_015378.4(VPS13D):c.12692G>A (p.Arg4231His)	VPS13D (R4231H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188797	NM_015378.4(VPS13D):c.12493A>G (p.Ile4165Val)	VPS13D (I4140V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188796	NM_015378.4(VPS13D):c.11002A>T (p.Asn3668Tyr)	VPS13D (N3668Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188795	NM_015378.4(VPS13D):c.1063A>G (p.Lys355Glu)	VPS13D (K355E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188794	NM_015378.4(VPS13D):c.10324G>A (p.Val3442Met)	VPS13D (V3442M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188793	NM_015378.4(VPS13D):c.10255G>A (p.Glu3419Lys)	VPS13D (E3419K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188792	NM_015378.4(VPS13D):c.1021T>C (p.Phe341Leu)	VPS13D (F341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188791	NM_015378.4(VPS13D):c.10004C>T (p.Thr3335Met)	VPS13D (T3335M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068636	NM_015378.4(VPS13D):c.12846A>C (p.Lys4282Asn)	VPS13D (K4257N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 3068580	NM_015378.4(VPS13D):c.9755T>G (p.Met3252Arg)	VPS13D (M3227R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 3065182	NM_015378.4(VPS13D):c.1868A>G (p.Glu623Gly)	VPS13D (E623G)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3062029	NM_015378.4(VPS13D):c.5723T>C (p.Ile1908Thr)	VPS13D (I1908T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3058394	NM_015378.4(VPS13D):c.3627C>T (p.Ser1209=)	VPS13D	Single nucleotide variant (synonymous variant)	VPS13D-related disorder	GLikely benign
Select item 3057650	NM_015378.4(VPS13D):c.7736_7737del (p.Ser2579fs)	VPS13D (S2579fs)	Deletion (frameshift variant)	VPS13D-related disorder	GLikely pathogenic
Select item 3053107	NM_015378.4(VPS13D):c.3843G>A (p.Glu1281=)	VPS13D	Single nucleotide variant (synonymous variant)	VPS13D-related disorder	GLikely benign
Select item 3052487	NM_015378.4(VPS13D):c.7692A>G (p.Pro2564=)	VPS13D	Single nucleotide variant (synonymous variant)	VPS13D-related disorder	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 3029543	NM_015378.4(VPS13D):c.3177C>T (p.Asn1059=)	VPS13D	Single nucleotide variant (synonymous variant)	VPS13D-related disorder	GLikely benign
Select item 3023215	NM_015378.4(VPS13D):c.11882-20T>C	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022051	NM_015378.4(VPS13D):c.8109C>T (p.Gly2703=)	VPS13D	Single nucleotide variant (synonymous 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 3020356	NM_015378.4(VPS13D):c.11881+13G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020066	NM_015378.4(VPS13D):c.1068T>C (p.Tyr356=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018947	NM_015378.4(VPS13D):c.2532A>G (p.Gly844=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018704	NM_015378.4(VPS13D):c.10704G>A (p.Gly3568=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017866	NM_015378.4(VPS13D):c.8148C>T (p.Ile2716=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016625	NM_015378.4(VPS13D):c.6762C>T (p.Asn2254=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016121	NM_015378.4(VPS13D):c.9388C>T (p.Arg3130Ter)	VPS13D (R3105* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3012539	NM_015378.4(VPS13D):c.12303T>C (p.Val4101=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012043	NM_015378.4(VPS13D):c.12414T>C (p.His4138=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011337	NM_015378.4(VPS13D):c.1212+15A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011060	NM_015378.4(VPS13D):c.6075T>C (p.Asp2025=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009933	NM_015378.4(VPS13D):c.2537C>T (p.Thr846Ile)	VPS13D (T846I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009446	NM_015378.4(VPS13D):c.9220+20C>T	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009321	NM_015378.4(VPS13D):c.11268G>T (p.Gly3756=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003921	NM_015378.4(VPS13D):c.9773A>G (p.Asn3258Ser)	VPS13D (N3233S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003862	NM_015378.4(VPS13D):c.10250A>G (p.Gln3417Arg)	VPS13D (Q3417R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003673	NM_015378.4(VPS13D):c.1726-17G>C	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003449	NM_015378.4(VPS13D):c.12279T>C (p.Asn4093=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003136	NM_015378.4(VPS13D):c.8197+18T>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000589	NM_015378.4(VPS13D):c.5579A>T (p.His1860Leu)	VPS13D (H1860L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999007	NM_015378.4(VPS13D):c.3588A>C (p.Ala1196=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998400	NM_015378.4(VPS13D):c.3228A>G (p.Gln1076=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996407	NM_015378.4(VPS13D):c.1467T>C (p.Tyr489=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995677	NM_015378.4(VPS13D):c.11709C>T (p.Val3903=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995601	NM_015378.4(VPS13D):c.9070-11C>T	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995561	NM_015378.4(VPS13D):c.9021+15G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995228	NM_015378.4(VPS13D):c.941+15G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995222	NM_015378.4(VPS13D):c.2541T>C (p.His847=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994493	NM_015378.4(VPS13D):c.11634+17A>G	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994115	NM_015378.4(VPS13D):c.7354A>C (p.Lys2452Gln)	VPS13D (K2452Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993896	NM_015378.4(VPS13D):c.5725+14G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993816	NM_015378.4(VPS13D):c.9777T>A (p.Arg3259=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993318	NM_015378.4(VPS13D):c.12165+13G>T	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 2992795	NM_015378.4(VPS13D):c.10629G>T (p.Val3543=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991785	NM_015378.4(VPS13D):c.10257A>G (p.Glu3419=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991323	NM_015378.4(VPS13D):c.3393C>A (p.Pro1131=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990803	NM_015378.4(VPS13D):c.36C>T (p.Thr12=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990666	NM_015378.4(VPS13D):c.2856G>T (p.Ser952=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990122	NM_015378.4(VPS13D):c.5725+10G>A	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989094	NM_015378.4(VPS13D):c.11184C>T (p.Val3728=)	VPS13D	Single nucleotide variant (synonymous 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 2988028	NM_015378.4(VPS13D):c.6516G>A (p.Pro2172=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986946	NM_015378.4(VPS13D):c.12273T>C (p.Tyr4091=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986685	NM_015378.4(VPS13D):c.11847G>T (p.Leu3949=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986332	NM_015378.4(VPS13D):c.4602+16G>C	VPS13D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985824	NM_015378.4(VPS13D):c.9975T>C (p.Tyr3325=)	VPS13D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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