"Ambry Genetics"[submitter] AND "VPS13A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2252712	NM_033305.3(VPS13A):c.126A>C (p.Gln42His)	VPS13A (Q42H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605139	NM_033305.3(VPS13A):c.226A>T (p.Thr76Ser)	VPS13A (T76S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150519	NM_033305.3(VPS13A):c.359A>C (p.Glu120Ala)	VPS13A (E120A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2329978	NM_033305.3(VPS13A):c.376G>A (p.Val126Ile)	VPS13A (V126I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273882	NM_033305.3(VPS13A):c.491A>G (p.Asp164Gly)	VPS13A (D164G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330774	NM_033305.3(VPS13A):c.494A>T (p.Asp165Val)	VPS13A (D165V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1208366	NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp)	VPS13A (R169W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2510174	NM_033305.3(VPS13A):c.961G>A (p.Val321Met)	VPS13A (V321M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 696476	NM_033305.3(VPS13A):c.971A>G (p.His324Arg)	VPS13A (H324R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2623179	NM_033305.3(VPS13A):c.1003A>G (p.Ile335Val)	VPS13A (I335V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332155	NM_033305.3(VPS13A):c.1092A>T (p.Gln364His)	VPS13A (Q364H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 913461	NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys)	VPS13A (Y365C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3332156	NM_033305.3(VPS13A):c.1148T>C (p.Leu383Pro)	VPS13A (L383P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 586927	NM_033305.3(VPS13A):c.1150G>A (p.Val384Met)	VPS13A (V384M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2490739	NM_033305.3(VPS13A):c.1209G>C (p.Gln403His)	VPS13A (Q403H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807131	NM_033305.3(VPS13A):c.1330G>C (p.Glu444Gln)	VPS13A (E444Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2236021	NM_033305.3(VPS13A):c.1354G>C (p.Glu452Gln)	VPS13A (E452Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332144	NM_033305.3(VPS13A):c.1409T>C (p.Ile470Thr)	VPS13A (I470T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328494	NM_033305.3(VPS13A):c.1415A>G (p.Tyr472Cys)	VPS13A (Y472C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188743	NM_033305.3(VPS13A):c.1489A>G (p.Met497Val)	VPS13A (M497V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511037	NM_033305.3(VPS13A):c.1498G>T (p.Val500Phe)	VPS13A (V500F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474300	NM_033305.3(VPS13A):c.1514A>G (p.His505Arg)	VPS13A (H505R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602427	NM_033305.3(VPS13A):c.1622A>G (p.His541Arg)	VPS13A (H541R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3188744	NM_033305.3(VPS13A):c.1687T>C (p.Ser563Pro)	VPS13A (S563P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452510	NM_033305.3(VPS13A):c.1750A>G (p.Ile584Val)	VPS13A (I584V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2595243	NM_033305.3(VPS13A):c.1886G>C (p.Ser629Thr)	VPS13A (S629T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 913845	NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro)	VPS13A (T667P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2295839	NM_033305.3(VPS13A):c.2051G>C (p.Ser684Thr)	VPS13A (S684T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3332153	NM_033305.3(VPS13A):c.2053C>T (p.Arg685Cys)	VPS13A (R685C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2046129	NM_033305.3(VPS13A):c.2054G>T (p.Arg685Leu)	VPS13A (R685L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2329977	NM_033305.3(VPS13A):c.2066C>T (p.Pro689Leu)	VPS13A (P689L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366232	NM_033305.3(VPS13A):c.2090A>G (p.Asn697Ser)	VPS13A (N697S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2283399	NM_033305.3(VPS13A):c.2189C>T (p.Ala730Val)	VPS13A (A730V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 367364	NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)	VPS13A (S734N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3332161	NM_033305.3(VPS13A):c.2252C>T (p.Ser751Phe)	VPS13A (S751F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188745	NM_033305.3(VPS13A):c.2371A>G (p.Ser791Gly)	VPS13A (S791G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1944495	NM_033305.3(VPS13A):c.2382A>T (p.Lys794Asn)	VPS13A (K794N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148284	NM_033305.3(VPS13A):c.2392G>C (p.Val798Leu)	VPS13A (V798L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1211881	NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser)	VPS13A (T799S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2617249	NM_033305.3(VPS13A):c.2437T>C (p.Ser813Pro)	VPS13A (S813P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 912384	NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met)	VPS13A (I825M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3188746	NM_033305.3(VPS13A):c.2480C>T (p.Pro827Leu)	VPS13A (P827L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188747	NM_033305.3(VPS13A):c.2543G>A (p.Cys848Tyr)	VPS13A (C848Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332032	NM_033305.3(VPS13A):c.2674A>T (p.Ile892Phe)	VPS13A (I892F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217905	NM_033305.3(VPS13A):c.2734G>A (p.Gly912Arg)	VPS13A (G912R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193860	NM_033305.3(VPS13A):c.2747A>C (p.Glu916Ala)	VPS13A (E916A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160475	NM_033305.3(VPS13A):c.2767G>A (p.Asp923Asn)	VPS13A (D923N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3332150	NM_033305.3(VPS13A):c.2783C>G (p.Ala928Gly)	VPS13A (A928G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303852	NM_033305.3(VPS13A):c.2831A>G (p.Asn944Ser)	VPS13A (N944S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2303991	NM_033305.3(VPS13A):c.2942A>G (p.Asn981Ser)	VPS13A (N981S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193382	NM_033305.3(VPS13A):c.2970T>A (p.Asn990Lys)	VPS13A (N990K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2316806	NM_033305.3(VPS13A):c.3127C>G (p.Leu1043Val)	VPS13A (L1043V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 913891	NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val)	VPS13A (I1065V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2596259	NM_033305.3(VPS13A):c.3202C>A (p.Gln1068Lys)	VPS13A (Q1068K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2162356	NM_033305.3(VPS13A):c.3328A>G (p.Ile1110Val)	VPS13A (I1071V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2624197	NM_033305.3(VPS13A):c.3395A>G (p.Asp1132Gly)	VPS13A (D1093G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235557	NM_033305.3(VPS13A):c.3397G>A (p.Ala1133Thr)	VPS13A (A1133T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 915137	NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val)	VPS13A (M1103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255355	NM_033305.3(VPS13A):c.3426G>A (p.Met1142Ile)	VPS13A (M1103I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536536	NM_033305.3(VPS13A):c.3448A>G (p.Asn1150Asp)	VPS13A (N1111D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332166	NM_033305.3(VPS13A):c.3467T>A (p.Ile1156Asn)	VPS13A (I1156N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188749	NM_033305.3(VPS13A):c.3485C>T (p.Thr1162Met)	VPS13A (T1123M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256898	NM_033305.3(VPS13A):c.3503T>C (p.Ile1168Thr)	VPS13A (I1129T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188750	NM_033305.3(VPS13A):c.3532G>C (p.Ala1178Pro)	VPS13A (A1178P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483357	NM_033305.3(VPS13A):c.3658A>G (p.Ile1220Val)	VPS13A (I1220V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703281	NM_033305.3(VPS13A):c.3753C>G (p.Ser1251Arg)	VPS13A (S1212R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2154343	NM_033305.3(VPS13A):c.3934G>A (p.Val1312Ile)	VPS13A (V1273I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 448861	NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)	VPS13A (H1336L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 912438	NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met)	VPS13A (I1339M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3188751	NM_033305.3(VPS13A):c.4054A>G (p.Thr1352Ala)	VPS13A (T1352A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155620	NM_033305.3(VPS13A):c.4070G>T (p.Ser1357Ile)	VPS13A (S1318I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2269191	NM_033305.3(VPS13A):c.4072G>A (p.Ala1358Thr)	VPS13A (A1319T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188752	NM_033305.3(VPS13A):c.4079G>A (p.Ser1360Asn)	VPS13A (S1360N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332147	NM_033305.3(VPS13A):c.4141G>A (p.Val1381Ile)	VPS13A (V1342I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511009	NM_033305.3(VPS13A):c.4156C>T (p.Arg1386Cys)	VPS13A (R1386C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477483	NM_033305.3(VPS13A):c.4385G>T (p.Arg1462Ile)	VPS13A (R1462I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 367382	NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)	VPS13A (H1464N +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +2 more	GUncertain significance
Select item 2477363	NM_033305.3(VPS13A):c.4517A>G (p.Tyr1506Cys)	VPS13A (Y1506C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 913551	NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser)	VPS13A (T1490S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2531498	NM_033305.3(VPS13A):c.4619C>T (p.Ala1540Val)	VPS13A (A1501V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332157	NM_033305.3(VPS13A):c.4687A>G (p.Ile1563Val)	VPS13A (I1524V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332163	NM_033305.3(VPS13A):c.4786A>G (p.Met1596Val)	VPS13A (M1557V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2740295	NM_033305.3(VPS13A):c.4811A>G (p.Gln1604Arg)	VPS13A (Q1604R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3188753	NM_033305.3(VPS13A):c.4813G>T (p.Val1605Leu)	VPS13A (V1605L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192703	NM_033305.3(VPS13A):c.4834C>G (p.Pro1612Ala)	VPS13A (P1612A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2274674	NM_033305.3(VPS13A):c.4951C>A (p.Leu1651Ile)	VPS13A (L1651I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 367387	NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)	VPS13A (T1660S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2542480	NM_033305.3(VPS13A):c.5009C>G (p.Thr1670Arg)	VPS13A (T1631R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543222	NM_033305.3(VPS13A):c.5042C>T (p.Ser1681Phe)	VPS13A (S1681F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539727	NM_033305.3(VPS13A):c.5106A>C (p.Glu1702Asp)	VPS13A (E1663D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332149	NM_033305.3(VPS13A):c.5131C>G (p.Pro1711Ala)	VPS13A (P1711A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 698313	NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)	VPS13A (P1704S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3332162	NM_033305.3(VPS13A):c.5239G>A (p.Ala1747Thr)	VPS13A (A1708T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327887	NM_033305.3(VPS13A):c.5267A>G (p.Lys1756Arg)	VPS13A (K1717R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621699	NM_033305.3(VPS13A):c.5339G>T (p.Gly1780Val)	VPS13A (G1741V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249144	NM_033305.3(VPS13A):c.5357T>C (p.Leu1786Pro)	VPS13A (L1747P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184423	NM_033305.3(VPS13A):c.5374G>T (p.Asp1792Tyr)	VPS13A (D1753Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270598	NM_033305.3(VPS13A):c.5395C>T (p.Pro1799Ser)	VPS13A (P1799S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188754	NM_033305.3(VPS13A):c.5440A>C (p.Ile1814Leu)	VPS13A (I1814L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188755	NM_033305.3(VPS13A):c.5447A>G (p.Glu1816Gly)	VPS13A (E1816G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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