"GeneDx"[submitter] AND "VPS33B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 1810479	NM_018668.5(VPS33B):c.1796C>T (p.Thr599Met)	VPS33B (T508M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1288168	NM_018668.5(VPS33B):c.1775-53G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706786	NM_018668.5(VPS33B):c.1775-130dup	VPS33B	Duplication (intron variant)	not provided	GLikely benign
Select item 1194057	NM_018668.5(VPS33B):c.1775-135del	VPS33B	Deletion (intron variant)	not provided	GLikely benign
Select item 1245281	NM_018668.5(VPS33B):c.1775-198del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1226832	NM_018668.5(VPS33B):c.1775-232T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278236	NM_018668.5(VPS33B):c.1775-276dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1289946	NM_018668.5(VPS33B):c.1775-265del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1237420	NM_018668.5(VPS33B):c.1774+168C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247061	NM_018668.5(VPS33B):c.1774+112G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228711	NM_018668.5(VPS33B):c.1774+106G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 288093	NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 261044	NM_018668.5(VPS33B):c.1671A>G (p.Glu557=)	VPS33B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261042	NM_018668.5(VPS33B):c.1656A>T (p.Thr552=)	VPS33B	Single nucleotide variant (synonymous variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +2 more	GBenign
Select item 1207702	NM_018668.5(VPS33B):c.1582-74C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276771	NM_018668.5(VPS33B):c.1582-78_1582-77del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1273297	NM_018668.5(VPS33B):c.1582-202G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294517	NM_018668.5(VPS33B):c.1581+200G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205701	NM_018668.5(VPS33B):c.1581+183C>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188439	NM_018668.5(VPS33B):c.1581+166C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283761	NM_018668.5(VPS33B):c.1581+77dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1207544	NM_018668.5(VPS33B):c.1581+82T>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218557	NM_018668.5(VPS33B):c.1581+79T>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261041	NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)	VPS33B (G514S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 595275	NM_018668.5(VPS33B):c.1534G>A (p.Val512Ile)	VPS33B (V512I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267440	NM_018668.5(VPS33B):c.1480-255T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259563	NM_018668.5(VPS33B):c.1479+202T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274035	NM_018668.5(VPS33B):c.1479+62dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1274123	NM_018668.5(VPS33B):c.1479+79del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1238180	NM_018668.5(VPS33B):c.1479+78_1479+79del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1695788	NM_018668.5(VPS33B):c.1454G>A (p.Arg485His)	VPS33B (R394H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226077	NM_018668.5(VPS33B):c.1406-139G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226448	NM_018668.5(VPS33B):c.1406-153G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229214	NM_018668.5(VPS33B):c.1406-208G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217381	NM_018668.5(VPS33B):c.1406-282_1406-279del	VPS33B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1258097	NM_018668.5(VPS33B):c.1405+69G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261039	NM_018668.5(VPS33B):c.1405+36G>A	VPS33B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 596028	NM_018668.5(VPS33B):c.1351A>G (p.Thr451Ala)	VPS33B (T451A +2 more)	Single nucleotide variant (missense variant)	VPS33B-related disorder +1 more	GUncertain significance
Select item 317420	NM_018668.5(VPS33B):c.1332G>A (p.Thr444=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2202	NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter)	VPS33B (R438* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1227166	NM_018668.5(VPS33B):c.1273-51A>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261493	NM_018668.5(VPS33B):c.1273-123A>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224697	NM_018668.5(VPS33B):c.1272+226dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1219943	NM_018668.5(VPS33B):c.1272+211G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261312	NM_018668.5(VPS33B):c.1272+203C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218746	NM_018668.5(VPS33B):c.1272+81G>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240758	NM_018668.5(VPS33B):c.1226-106A>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245329	NM_018668.5(VPS33B):c.1226-136A>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205179	NM_018668.5(VPS33B):c.1226-174C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245790	NM_018668.5(VPS33B):c.1226-252C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 88858	NM_018668.5(VPS33B):c.1225+5G>C	VPS33B	Single nucleotide variant (intron variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +2 more	GPathogenic/Likely pathogenic
Select item 1309125	NM_018668.5(VPS33B):c.1193G>A (p.Arg398His)	VPS33B (R307H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1187176	NM_018668.5(VPS33B):c.1106-120T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254582	NM_018668.5(VPS33B):c.1105+61C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294480	NM_018668.5(VPS33B):c.1105+35G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261037	NM_018668.5(VPS33B):c.1105+9C>T	VPS33B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1712760	NM_018668.5(VPS33B):c.983C>T (p.Ser328Phe)	VPS33B (S237F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 317424	NM_018668.5(VPS33B):c.941G>A (p.Arg314His)	VPS33B (R314H +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more	GUncertain significance
Select item 1179294	NM_018668.5(VPS33B):c.939+32T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308247	NM_018668.5(VPS33B):c.869G>A (p.Arg290Gln)	VPS33B (R199Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286319	NM_018668.5(VPS33B):c.852+66_852+90del	VPS33B	Microsatellite (intron variant)	not provided	GBenign
Select item 1236650	NM_018668.5(VPS33B):c.778+60C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178714	NM_018668.5(VPS33B):c.701-45G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217918	NM_018668.5(VPS33B):c.700+83C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261047	NM_018668.5(VPS33B):c.648C>T (p.Gly216=)	VPS33B	Single nucleotide variant (synonymous variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +2 more	GBenign
Select item 596029	NM_018668.5(VPS33B):c.637G>A (p.Glu213Lys)	VPS33B (E213K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 317427	NM_018668.5(VPS33B):c.609A>G (p.Ala203=)	VPS33B	Single nucleotide variant (synonymous variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more	GBenign
Select item 1686755	NM_018668.5(VPS33B):c.604-3C>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1195794	NM_018668.5(VPS33B):c.604-173A>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270033	NM_018668.5(VPS33B):c.603+35C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261046	NM_018668.5(VPS33B):c.597C>T (p.Cys199=)	VPS33B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1220574	NM_018668.5(VPS33B):c.498+147G>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261581	NM_018668.5(VPS33B):c.498+117A>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257872	NM_018668.5(VPS33B):c.404-266T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269697	NM_018668.5(VPS33B):c.403+72C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301089	NM_018668.5(VPS33B):c.403+57GTT[2]	VPS33B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1233456	NM_018668.5(VPS33B):c.358-227G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242609	NM_018668.5(VPS33B):c.358-306C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233299	NM_018668.5(VPS33B):c.357+97C>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214260	NM_018668.5(VPS33B):c.357+72A>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196622	NM_018668.5(VPS33B):c.357+48G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 523950	NM_018668.5(VPS33B):c.350del (p.Pro117fs)	VPS33B (P90fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 498825	NM_018668.5(VPS33B):c.299A>G (p.Asn100Ser)	VPS33B (N100S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1252145	NM_018668.5(VPS33B):c.290-85G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273905	NM_018668.5(VPS33B):c.290-118C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203326	NM_018668.5(VPS33B):c.290-193T>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277397	NM_018668.5(VPS33B):c.289+142dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1248030	NM_018668.5(VPS33B):c.289+164del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1191948	NM_018668.5(VPS33B):c.289+160_289+164del	VPS33B	Deletion (intron variant)	not provided	GLikely benign
Select item 1175209	NM_018668.5(VPS33B):c.289+129_289+131dup	VPS33B	Duplication (intron variant)	not provided	GLikely benign
Select item 1212017	NM_018668.5(VPS33B):c.289+41C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 419058	NM_018668.5(VPS33B):c.242del (p.Leu81fs)	VPS33B (L54fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 261045	NM_018668.5(VPS33B):c.240-13_240-12del	VPS33B	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1193619	NM_018668.5(VPS33B):c.240-89A>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256689	NM_018668.5(VPS33B):c.239+272T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223071	NM_018668.5(VPS33B):c.239+115A>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251128	NM_018668.5(VPS33B):c.239+60C>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201451	NM_018668.5(VPS33B):c.178-99C>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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