ClinVar for Gene (Select 54832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362834	NM_020821.3(VPS13C):c.5205G>T (p.Gln1735His)	VPS13C (Q1692H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 3362474	NM_020821.3(VPS13C):c.5843T>A (p.Ile1948Asn)	VPS13C (I1905N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 3361960	NM_020821.3(VPS13C):c.7298C>T (p.Pro2433Leu)	VPS13C (P2390L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361959	NM_020821.3(VPS13C):c.9913G>A (p.Asp3305Asn)	VPS13C (D3262N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361384	NM_020821.3(VPS13C):c.10558G>C (p.Gly3520Arg)	VPS13C (G3477R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360690	NM_020821.3(VPS13C):c.4394C>T (p.Thr1465Ile)	VPS13C (T1422I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358505	NM_020821.3(VPS13C):c.3719C>T (p.Ser1240Phe)	VPS13C (S1197F +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 3358365	NM_020821.3(VPS13C):c.4480A>G (p.Ile1494Val)	VPS13C (I1451V +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 3350951	NM_020821.3(VPS13C):c.4576A>T (p.Ser1526Cys)	VPS13C (S1483C +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 3342532	NM_020821.3(VPS13C):c.866C>A (p.Pro289His)	VPS13C (P246H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341974	NM_020821.3(VPS13C):c.5406A>G (p.Pro1802=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243894	NC_000015.9:g.(?_62212246)_(62352573_?)dup	VPS13C	Duplication	not provided	GUncertain significance
Select item 3243698	NC_000015.9:g.(?_62244003)_(63358098_?)dup	C2CD4A, C2CD4B +3 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3238850	NM_020821.3(VPS13C):c.3849C>A (p.Tyr1283Ter)	VPS13C (Y1240* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GPathogenic
Select item 3238761	NM_020821.3(VPS13C):c.7721G>A (p.Arg2574Lys)	VPS13C (R2531K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 3235050	NM_020821.3(VPS13C):c.8315A>G (p.Tyr2772Cys)	VPS13C (Y2729C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 3075815	NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter)	VPS13C (W330* +1 more)	Single nucleotide variant (nonsense)	Young-onset Parkinson disease	GLikely pathogenic
Select item 3075814	NM_020821.3(VPS13C):c.5698C>T (p.Gln1900Ter)	VPS13C (Q1857* +1 more)	Single nucleotide variant (nonsense)	Young-onset Parkinson disease	GLikely pathogenic
Select item 3075763	NM_020821.3(VPS13C):c.5462T>A (p.Leu1821Ter)	VPS13C (L1778* +1 more)	Single nucleotide variant (nonsense)	Young-onset Parkinson disease	GLikely pathogenic
Select item 3075762	NM_020821.3(VPS13C):c.3331G>T (p.Gly1111Ter)	VPS13C (G1068* +1 more)	Single nucleotide variant (nonsense)	Young-onset Parkinson disease	GLikely pathogenic
Select item 3075761	NM_020821.3(VPS13C):c.2408+1G>A	VPS13C	Single nucleotide variant (splice donor variant)	Young-onset Parkinson disease	GLikely pathogenic
Select item 3075760	NM_020821.3(VPS13C):c.3908+2T>C	VPS13C	Single nucleotide variant (splice donor variant)	Young-onset Parkinson disease	GLikely pathogenic
Select item 3068084	NM_020821.3(VPS13C):c.10414+1G>A	VPS13C	Single nucleotide variant (splice donor variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 3065269	NM_020821.3(VPS13C):c.5756-1G>T	VPS13C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 3064720	NM_020821.3(VPS13C):c.9019C>T (p.Arg3007Ter)	VPS13C (R2964* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 3059789	NM_020821.3(VPS13C):c.1118+9G>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 3057362	NM_020821.3(VPS13C):c.6552T>C (p.Cys2184=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3054791	NM_020821.3(VPS13C):c.9105+8T>C	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 3054058	NM_020821.3(VPS13C):c.8340G>T (p.Arg2780=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3051268	NM_020821.3(VPS13C):c.9555A>T (p.Ser3185=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3049735	NM_020821.3(VPS13C):c.10414+6T>G	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 3047702	NM_020821.3(VPS13C):c.8160C>A (p.Gly2720=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3047271	NM_020821.3(VPS13C):c.9707-5C>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 3038453	NM_020821.3(VPS13C):c.1875G>C (p.Leu625=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3037685	NM_020821.3(VPS13C):c.8061A>C (p.Thr2687=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3037077	NM_020821.3(VPS13C):c.2550T>A (p.Ile850=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3036172	NM_020821.3(VPS13C):c.8080G>A (p.Ala2694Thr)	VPS13C (A2651T +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 3036004	NM_020821.3(VPS13C):c.3106A>G (p.Ile1036Val)	VPS13C (I1036V +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 3034742	NM_020821.3(VPS13C):c.9889-3C>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 3034183	NM_020821.3(VPS13C):c.7311G>A (p.Lys2437=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3033061	NM_020821.3(VPS13C):c.6972A>G (p.Leu2324=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3025968	NM_020821.3(VPS13C):c.5597T>C (p.Met1866Thr)	VPS13C (M1823T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025214	NM_020821.3(VPS13C):c.9369A>G (p.Pro3123=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025188	NM_020821.3(VPS13C):c.6147T>C (p.Tyr2049=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018705	NM_020821.3(VPS13C):c.3524C>T (p.Ser1175Phe)	VPS13C (S1132F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006540	NM_020821.3(VPS13C):c.10219G>T (p.Glu3407Ter)	VPS13C (E3364* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3006134	NM_020821.3(VPS13C):c.5415T>C (p.Asp1805=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006051	NM_020821.3(VPS13C):c.3331+18A>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003328	NM_020821.3(VPS13C):c.4596+8T>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000824	NM_020821.3(VPS13C):c.192del (p.Lys64fs)	VPS13C (K64fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2998482	NM_020821.3(VPS13C):c.8017C>T (p.Arg2673Trp)	VPS13C (R2630W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998243	NM_020821.3(VPS13C):c.1290+20G>A	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997933	NM_020821.3(VPS13C):c.2166+15G>A	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996729	NM_020821.3(VPS13C):c.1484-6dup	VPS13C	Duplication (intron variant)	not provided	GBenign
Select item 2996156	NM_020821.3(VPS13C):c.10748+10T>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996155	NM_020821.3(VPS13C):c.5811A>G (p.Gln1937=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994512	NM_020821.3(VPS13C):c.7488A>T (p.Gly2496=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994017	NM_020821.3(VPS13C):c.386G>A (p.Gly129Asp)	VPS13C (G129D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994016	NM_020821.3(VPS13C):c.6404A>C (p.Asn2135Thr)	VPS13C (N2092T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993785	NM_020821.3(VPS13C):c.514+19A>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993124	NM_020821.3(VPS13C):c.9769C>T (p.Gln3257Ter)	VPS13C (Q3214* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2992916	NM_020821.3(VPS13C):c.4887C>G (p.Ala1629=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990508	NM_020821.3(VPS13C):c.448+13G>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989809	NM_020821.3(VPS13C):c.7639-10T>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989371	NM_020821.3(VPS13C):c.1290+16A>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989245	NM_020821.3(VPS13C):c.7329A>G (p.Arg2443=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989240	NM_020821.3(VPS13C):c.6039-18T>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989229	NM_020821.3(VPS13C):c.540T>C (p.Asp180=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988417	NM_020821.3(VPS13C):c.11147C>A (p.Thr3716Asn)	VPS13C (T3716N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988415	NM_020821.3(VPS13C):c.6537A>C (p.Leu2179Phe)	VPS13C (L2179F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988208	NM_020821.3(VPS13C):c.1011+11T>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986257	NM_020821.3(VPS13C):c.10624+15T>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985909	NM_020821.3(VPS13C):c.4876+12C>T	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985014	NM_020821.3(VPS13C):c.1915-12dup	VPS13C	Duplication (intron variant)	not provided	GBenign
Select item 2984894	NM_020821.3(VPS13C):c.9175C>T (p.Gln3059Ter)	VPS13C (Q3059* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2984838	NM_020821.3(VPS13C):c.1579-15A>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2984798	NM_020821.3(VPS13C):c.744+20A>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984607	NM_020821.3(VPS13C):c.9484-17_9484-16del	VPS13C	Deletion (intron variant)	not provided	GBenign
Select item 2982889	NM_020821.3(VPS13C):c.188-16A>C	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968524	NM_020821.3(VPS13C):c.10111A>C (p.Thr3371Pro)	VPS13C (T3328P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958811	NM_020821.3(VPS13C):c.1956G>A (p.Lys652=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958672	NM_020821.3(VPS13C):c.9483+17T>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955620	NM_020821.3(VPS13C):c.8637A>G (p.Ser2879=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2909478	NM_020821.3(VPS13C):c.3678C>A (p.Ala1226=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903223	NM_020821.3(VPS13C):c.6885T>C (p.Thr2295=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902481	NM_020821.3(VPS13C):c.8781A>G (p.Gly2927=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894363	NM_020821.3(VPS13C):c.8625A>G (p.Ala2875=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891929	NM_020821.3(VPS13C):c.8030C>T (p.Pro2677Leu)	VPS13C (P2677L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889759	NM_020821.3(VPS13C):c.390A>G (p.Thr130=)	VPS13C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889735	NM_020821.3(VPS13C):c.837A>G (p.Lys279=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884666	NM_020821.3(VPS13C):c.6429C>G (p.Leu2143=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2880695	NM_020821.3(VPS13C):c.5868+1G>A	VPS13C	Single nucleotide variant (splice donor variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GLikely pathogenic
Select item 2880238	NM_020821.3(VPS13C):c.1524C>T (p.Leu508=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880177	NM_020821.3(VPS13C):c.4596+12A>G	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879517	NM_020821.3(VPS13C):c.1011+12G>A	VPS13C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876778	NM_020821.3(VPS13C):c.8325C>T (p.Ile2775=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870439	NM_020821.3(VPS13C):c.9126A>G (p.Pro3042=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868674	NM_020821.3(VPS13C):c.10756G>T (p.Glu3586Ter)	VPS13C (E3586* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2860772	NM_020821.3(VPS13C):c.8268C>T (p.His2756=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857502	NM_020821.3(VPS13C):c.9111A>G (p.Gly3037=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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