ClinVar for MedGen (Select 98277) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367158	NM_033305.3(VPS13A):c.495+4_495+7del	VPS13A	Deletion (splice donor variant)	Chorea-acanthocytosis	GUncertain significance
Select item 3366999	NM_033305.3(VPS13A):c.7062dup (p.Leu2355fs)	VPS13A (L2316fs +1 more)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3256776	NM_033305.3(VPS13A):c.8041A>T (p.Lys2681Ter)	VPS13A (K2642* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3220898	NM_033305.3(VPS13A):c.2203dup (p.Val735fs)	VPS13A (V735fs)	Duplication (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 3067883	NM_033305.3(VPS13A):c.3943C>A (p.Gln1315Lys)	VPS13A (Q1276K +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2921085	NM_033305.3(VPS13A):c.9189+2495C>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2690777	NM_033305.3(VPS13A):c.8744-2A>G	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2690776	NM_033305.3(VPS13A):c.7027-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2671682	NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)	VPS13A	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2627469	NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)	VPS13A (G2984W +1 more)	Indel (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2627468	NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)	VPS13A (K1038fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2585440	NM_033305.3(VPS13A):c.6379-1G>C	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2584737	NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)	VPS13A (F2680fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 2584736	NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)	VPS13A (R1928fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 2577486	NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)	VPS13A (L984*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GPathogenic
Select item 2577485	NM_033305.3(VPS13A):c.2512+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GPathogenic
Select item 2577484	NM_033305.3(VPS13A):c.755-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GPathogenic
Select item 2577483	NM_033305.3(VPS13A):c.144+1G>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GPathogenic
Select item 2505072	NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)	VPS13A (A2874T +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	Gnot provided
Select item 2438528	NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)	VPS13A (W2060C +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2434537	NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)	VPS13A (N3043fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2434520	NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)	VPS13A (E282fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2431039	NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)	VPS13A (S1210fs +1 more)	Microsatellite (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2415079	NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)	VPS13A (D271Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2136781	NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)	VPS13A (S539*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 1709453	NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)	VPS13A (L2366* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1698814	NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)	VPS13A, VPS13A-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1691820	NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)	VPS13A (M3049R +1 more)	Single nucleotide variant	Chorea-acanthocytosis	GLikely pathogenic
Select item 1684650	Single allele	VPS13A	Deletion	Chorea-acanthocytosis	GLikely pathogenic
Select item 1683674	NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser)	VPS13A (F1857S +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1609634	NM_033305.3(VPS13A):c.4630+17A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 1458998	NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)	VPS13A (R2584* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 1456540	NM_033305.3(VPS13A):c.2500del (p.Val834fs)	VPS13A (V834fs)	Deletion (frameshift variant)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 1409605	NM_033305.3(VPS13A):c.6096-3C>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 1375001	NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)	VPS13A (S1377fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1347984	NM_033305.3(VPS13A):c.8325+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 1347870	NM_033305.3(VPS13A):c.8324A>T (p.Lys2775Met)	VPS13A (K2736M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342884	NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys)	VPS13A (R2458C +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1342883	NM_033305.3(VPS13A):c.4715del (p.Asn1572fs)	VPS13A (N1533fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1334047	NM_033305.3(VPS13A):c.5599T>A (p.Ser1867Thr)	VPS13A (S1828T +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1325340	NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)	VPS13A, VPS13A-AS1 (S5*)	Single nucleotide variant (non-coding transcript variant +1 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1323749	NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)	VPS13A (Y2084fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 1323748	NM_033305.3(VPS13A):c.7419+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1274691	NM_033305.3(VPS13A):c.6379-7A>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1262560	NM_033305.3(VPS13A):c.2288+20T>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
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 1209668	NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly)	VPS13A (D1913G +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	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 1185295	NM_033305.3(VPS13A):c.7027-54A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185294	NM_033305.3(VPS13A):c.7026+62A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185293	NM_033305.3(VPS13A):c.6379-27G>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185292	NM_033305.3(VPS13A):c.3961-22A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185291	NM_033305.3(VPS13A):c.3813-171C>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185290	NM_033305.3(VPS13A):c.3508-44G>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185289	NM_033305.3(VPS13A):c.3508-51A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185288	NM_033305.3(VPS13A):c.3118+66A>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GBenign
Select item 1185287	NM_033305.3(VPS13A):c.2825-63T>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185286	NM_033305.3(VPS13A):c.2512+116A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185285	NM_033305.3(VPS13A):c.2428-50G>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185259	NM_033305.3(VPS13A):c.2170+42G>A	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185258	NM_033305.3(VPS13A):c.2037+191T>C	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185257	NM_033305.3(VPS13A):c.1901-215G>A	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185256	NM_033305.3(VPS13A):c.1596-31C>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185255	NM_033305.3(VPS13A):c.883-16A>C	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185254	NM_033305.3(VPS13A):c.616-47A>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GLikely benign
Select item 1185253	NM_033305.3(VPS13A):c.615+20G>C	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185252	NM_033305.3(VPS13A):c.101-62A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185166	NM_033305.3(VPS13A):c.9400-34A>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185165	NM_033305.3(VPS13A):c.9078-133A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185164	NM_033305.3(VPS13A):c.8667+106A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185163	NM_033305.3(VPS13A):c.8553+31G>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185162	NM_033305.3(VPS13A):c.8105+81G>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1184557	NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer)	VPS13A	Deletion (nonsense)	Chorea-acanthocytosis	GPathogenic
Select item 1170453	NM_033305.3(VPS13A):c.385+6_385+15del	VPS13A	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1164511	NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1153841	NM_033305.3(VPS13A):c.8211+9del	VPS13A	Deletion (intron variant)	not provided	GLikely benign
Select item 1152193	NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149649	NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GConflicting classifications of pathogenicity
Select item 1144681	NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126519	NM_033305.3(VPS13A):c.8668-10G>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1126253	NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1125684	NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116758	NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113076	NM_033305.3(VPS13A):c.846G>A (p.Glu282=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102625	NM_033305.3(VPS13A):c.284-4A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1091328	NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083564	NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070929	NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter)	VPS13A (E1078*)	Single nucleotide variant (nonsense +1 more)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 1069304	NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)	VPS13A (S2753* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 1066476	NM_033305.3(VPS13A):c.8668-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1050337	NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu)	VPS13A (S1710L +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 1028515	NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)	VPS13A (S2273* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1028514	NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn)	VPS13A (T1922N +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 1028513	NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1028512	NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)	VPS13A (R776*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 1008028	NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala)	VPS13A (S1642A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995357	NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val)	VPS13A (I2706V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989592	NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile)	VPS13A (V2386I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989591	NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg)	VPS13A (C2338R +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 989590	NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr)	VPS13A (C2028Y +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance

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