"GeneDx"[submitter] AND "VPS35"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 319278	NM_018206.6(VPS35):c.*283del	VPS35	Deletion (3 prime UTR variant)	Parkinson Disease, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 319289	NM_018206.6(VPS35):c.2241C>T (p.Ile747=)	VPS35	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1290116	NM_018206.6(VPS35):c.2212-188dup	VPS35	Duplication (intron variant)	not provided	GBenign
Select item 1232049	NM_018206.6(VPS35):c.2212-188_2212-187dup	VPS35	Duplication (intron variant)	not provided	GBenign
Select item 1220473	NM_018206.6(VPS35):c.2212-188_2212-186dup	VPS35	Duplication (intron variant)	not provided	GLikely benign
Select item 1207265	NM_018206.6(VPS35):c.2212-218C>T	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 30196	NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn)	VPS35 (D620N)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GPathogenic
Select item 1227205	NM_018206.6(VPS35):c.1648-24T>C	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222250	NM_018206.6(VPS35):c.1647+102A>G	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270622	NM_018206.6(VPS35):c.1525-21del	VPS35	Deletion (intron variant)	not provided	GBenign
Select item 1233510	NM_018206.6(VPS35):c.1524+115A>G	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203818	NM_018206.6(VPS35):c.1524+59G>A	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267439	NM_018206.6(VPS35):c.1524+41G>C	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954113	NM_018206.6(VPS35):c.1477C>T (p.Arg493Cys)	VPS35 (R493C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973547	NM_018206.6(VPS35):c.1291_1292delinsTT (p.Glu431Leu)	VPS35 (E431L)	Indel (missense variant)	Parkinson disease 17 +1 more	GUncertain significance
Select item 319292	NM_018206.6(VPS35):c.1145A>G (p.Lys382Arg)	VPS35 (K382R)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GBenign
Select item 450710	NM_018206.6(VPS35):c.959C>T (p.Ala320Val)	VPS35 (A320V)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GConflicting classifications of pathogenicity
Select item 1804416	NM_018206.6(VPS35):c.935G>A (p.Arg312His)	VPS35 (R312H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189969	NM_018206.6(VPS35):c.915-16dup	VPS35	Duplication (intron variant)	not provided	GLikely benign
Select item 2577588	NM_018206.6(VPS35):c.915-120_915-117del	VPS35	Deletion (intron variant)	not provided	GLikely benign
Select item 1202255	NM_018206.6(VPS35):c.914+96C>T	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1526325	NM_018206.6(VPS35):c.893T>C (p.Ile298Thr)	VPS35 (I298T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704148	NM_018206.6(VPS35):c.834T>C (p.Thr278=)	VPS35	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1259054	NM_018206.6(VPS35):c.805-265A>G	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189777	NM_018206.6(VPS35):c.506+255T>C	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195656	NM_018206.6(VPS35):c.506+155G>A	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189513	NM_018206.6(VPS35):c.506+71A>G	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252503	NM_018206.6(VPS35):c.506+54T>C	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338948	NM_018206.6(VPS35):c.324-211GT[20]	VPS35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1293908	NM_018206.6(VPS35):c.324-211GT[18]	VPS35	Microsatellite (intron variant)	not provided	GBenign
Select item 1266195	NM_018206.6(VPS35):c.324-211GT[17]	VPS35	Microsatellite (intron variant)	not provided	GBenign
Select item 1199836	NM_018206.6(VPS35):c.324-211GT[19]	VPS35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1197384	NM_018206.6(VPS35):c.324-211GT[21]	VPS35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1187765	NM_018206.6(VPS35):c.324-211GT[13]	VPS35	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1265393	NM_018206.6(VPS35):c.323+98C>T	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429686	NM_018206.6(VPS35):c.204G>A (p.Met68Ile)	VPS35 (M68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223164	NM_018206.6(VPS35):c.200-94T>A	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 487669	NM_018206.6(VPS35):c.171G>A (p.Met57Ile)	VPS35 (M57I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 487668	NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)	VPS35 (G51S)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GBenign/Likely benign
Select item 1273103	NM_018206.6(VPS35):c.102+108T>C	VPS35	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209067	NM_018206.6(VPS35):c.102+56T>G	VPS35	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212087	NC_000016.10:g.46689307C>T	VPS35	Single nucleotide variant	not provided	GLikely benign
Select item 2497850	NC_000016.10:g.46689709G>A	VPS35, ORC6 (G2R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 46