"GeneDx"[submitter] AND "VPS13A"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 412

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 144959	GRCh38/hg38 9q21.2(chr9:76996739-77415046)x1	FOXB2, LOC121331330 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1249099	NC_000009.12:g.77177103C>G	VPS13A, VPS13A-AS1	Single nucleotide variant	not provided	GBenign
Select item 1257124	NC_000009.12:g.77177159G>C	VPS13A, VPS13A-AS1	Single nucleotide variant	not provided	GBenign
Select item 1703371	NC_000009.12:g.77177276dup	LOC121331331, VPS13A +1 more	Duplication	not provided	GLikely benign
Select item 1301460	NC_000009.12:g.77177290T>C	LOC121331331, VPS13A +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 367337	NM_033305.2(VPS13A):c.-183G>C	LOC121331331, VPS13A +1 more	Single nucleotide variant	Chorea-acanthocytosis +1 more	GBenign
Select item 367338	NM_033305.2(VPS13A):c.-181G>A	LOC121331331, VPS13A +1 more	Single nucleotide variant	not provided +1 more	GBenign
Select item 1291837	NM_033305.3(VPS13A):c.100+200G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241266	NM_033305.3(VPS13A):c.100+225G>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238872	NM_033305.3(VPS13A):c.101-296C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219851	NM_033305.3(VPS13A):c.101-195G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281861	NM_033305.3(VPS13A):c.101-175_101-174del	VPS13A	Deletion (intron variant)	not provided	GBenign
Select item 1185252	NM_033305.3(VPS13A):c.101-62A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 695921	NM_033305.3(VPS13A):c.101-7T>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 1239444	NM_033305.3(VPS13A):c.144+236T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202057	NM_033305.3(VPS13A):c.145-206A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3252424	NM_033305.3(VPS13A):c.172A>C (p.Lys58Gln)	VPS13A (K58Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202462	NM_033305.3(VPS13A):c.187+166T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272128	NM_033305.3(VPS13A):c.188-88_188-87insT	VPS13A	Insertion (intron variant)	not provided	GBenign
Select item 695480	NM_033305.3(VPS13A):c.228T>C (p.Thr76=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1210600	NM_033305.3(VPS13A):c.283+113A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289527	NM_033305.3(VPS13A):c.283+115A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212739	NM_033305.3(VPS13A):c.283+206T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241532	NM_033305.3(VPS13A):c.283+269T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170453	NM_033305.3(VPS13A):c.385+6_385+15del	VPS13A	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1214622	NM_033305.3(VPS13A):c.385+76T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200728	NM_033305.3(VPS13A):c.385+221TTA[4]	VPS13A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1281990	NM_033305.3(VPS13A):c.385+250_385+251del	VPS13A	Deletion (intron variant)	not provided	GBenign
Select item 1222769	NM_033305.3(VPS13A):c.385+249_385+250insA	VPS13A	Insertion (intron variant)	not provided	GBenign
Select item 1280526	NM_033305.3(VPS13A):c.385+250_385+251insATA	VPS13A	Insertion (intron variant)	not provided	GBenign
Select item 1265889	NM_033305.3(VPS13A):c.385+250_385+251insA	VPS13A	Insertion (intron variant)	not provided	GBenign
Select item 1259011	NM_033305.3(VPS13A):c.385+250_385+251insATATA	VPS13A	Insertion (intron variant)	not provided	GBenign
Select item 1251197	NM_033305.3(VPS13A):c.385+251TA[9]	VPS13A	Microsatellite (intron variant)	not provided	GBenign
Select item 1239071	NM_033305.3(VPS13A):c.385+250T>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209255	NM_033305.3(VPS13A):c.385+250_385+251insATATATA	VPS13A	Insertion (intron variant)	not provided	GLikely benign
Select item 1233321	NM_033305.3(VPS13A):c.385+267C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234354	NM_033305.3(VPS13A):c.386-337C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254519	NM_033305.3(VPS13A):c.496-264C>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261443	NM_033305.3(VPS13A):c.496-248G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
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 1241866	NM_033305.3(VPS13A):c.556-94G>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196737	NM_033305.3(VPS13A):c.556-10dup	VPS13A	Duplication (intron variant)	not provided	GBenign/Likely 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 1225511	NM_033305.3(VPS13A):c.616-83C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 915061	NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln)	VPS13A (R208Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1196076	NM_033305.3(VPS13A):c.696+153A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261595	NM_033305.3(VPS13A):c.696+176C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222173	NM_033305.3(VPS13A):c.696+200dup	VPS13A	Duplication (intron variant)	not provided	GBenign
Select item 1263336	NM_033305.3(VPS13A):c.696+199_696+200del	VPS13A	Deletion (intron variant)	not provided	GBenign
Select item 1229596	NM_033305.3(VPS13A):c.696+200del	VPS13A	Deletion (intron variant)	not provided	GBenign
Select item 1181082	NM_033305.3(VPS13A):c.696+286A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269415	NM_033305.3(VPS13A):c.697-236T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207778	NM_033305.3(VPS13A):c.697-208C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231544	NM_033305.3(VPS13A):c.697-168A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190004	NM_033305.3(VPS13A):c.697-161C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203669	NM_033305.3(VPS13A):c.697-87C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252371	NM_033305.3(VPS13A):c.754+273A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278154	NM_033305.3(VPS13A):c.755-314C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214650	NM_033305.3(VPS13A):c.755-100A>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 367346	NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)	VPS13A (N259D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 373362	NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter)	VPS13A (R267*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 1261157	NM_033305.3(VPS13A):c.883-92T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292033	NM_033305.3(VPS13A):c.883-91T>A	VPS13A	Single nucleotide variant (intron variant)	not provided	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 1195525	NM_033305.3(VPS13A):c.989+21T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675244	NM_033305.3(VPS13A):c.989+64G>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196657	NM_033305.3(VPS13A):c.989+74A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221584	NM_033305.3(VPS13A):c.989+256G>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178624	NM_033305.3(VPS13A):c.989+304T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296551	NM_033305.3(VPS13A):c.990-203A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367350	NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign
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 1210481	NM_033305.3(VPS13A):c.1161+77T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267465	NM_033305.3(VPS13A):c.1161+134G>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217830	NM_033305.3(VPS13A):c.1161+240A>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278206	NM_033305.3(VPS13A):c.1224+139T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218059	NM_033305.3(VPS13A):c.1224+165_1224+166insA	VPS13A	Insertion (intron variant)	not provided	GLikely benign
Select item 1194451	NM_033305.3(VPS13A):c.1224+184A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249529	NM_033305.3(VPS13A):c.1225-190A>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
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 1264531	NM_033305.3(VPS13A):c.1357+277G>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212559	NM_033305.3(VPS13A):c.1358-45A>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223205	NM_033305.3(VPS13A):c.1358-29A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 851289	NM_033305.3(VPS13A):c.1400_1401del (p.Leu466_Tyr467insTer)	VPS13A	Deletion (nonsense)	not provided	GPathogenic
Select item 1268059	NM_033305.3(VPS13A):c.1452+207T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262706	NM_033305.3(VPS13A):c.1452+229dup	VPS13A	Duplication (intron variant)	not provided	GBenign
Select item 1271450	NM_033305.3(VPS13A):c.1452+221_1452+222insG	VPS13A	Insertion (intron variant)	not provided	GBenign
Select item 1218924	NM_033305.3(VPS13A):c.1452+222T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270008	NM_033305.3(VPS13A):c.1452+246C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240935	NM_033305.3(VPS13A):c.1453-203dup	VPS13A	Duplication (intron variant)	not provided	GBenign
Select item 1199504	NM_033305.3(VPS13A):c.1453-133A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217782	NM_033305.3(VPS13A):c.1453-36A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204378	NM_033305.3(VPS13A):c.1595+143dup	VPS13A	Duplication (intron variant)	not provided	GLikely benign
Select item 1271176	NM_033305.3(VPS13A):c.1595+282T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197480	NM_033305.3(VPS13A):c.1595+292del	VPS13A	Deletion (intron variant)	not provided	GLikely benign
Select item 1185256	NM_033305.3(VPS13A):c.1596-31C>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3369619	NM_033305.3(VPS13A):c.1658G>A (p.Arg553His)	VPS13A (R553H)	Single nucleotide variant (missense variant)	not provided	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 367357	NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

<< First< Prev

Page of 5