VPS35[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930214	t(10;16)(q26;q11)	FGFR2, VPS35	Translocation	Glioma	GLikely pathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 150687	GRCh38/hg38 16q11.2(chr16:46471685-46767956)x3	LOC130058916, LOC130058917 +7 more	Copy number gain	See cases	GLikely benign
Select item 319267	NM_018206.6(VPS35):c.761_762dup	VPS35	Duplication (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319266	NM_018206.6(VPS35):c.*762dup	VPS35	Duplication (3 prime UTR variant)	Parkinson Disease, Dominant	GLikely benign
Select item 319268	NM_018206.6(VPS35):c.*617A>G	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 885587	NM_018206.6(VPS35):c.*575A>T	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 885588	NM_018206.6(VPS35):c.*422C>A	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GBenign
Select item 319269	NM_018206.6(VPS35):c.*401G>A	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 319270	NM_018206.6(VPS35):c.*380G>A	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 319271	NM_018206.6(VPS35):c.*354G>C	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GBenign
Select item 319272	NM_018206.6(VPS35):c.*346G>A	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GBenign
Select item 886610	NM_018206.6(VPS35):c.*345T>G	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 886611	NM_018206.6(VPS35):c.*289C>T	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GLikely benign
Select item 319276	NM_018206.6(VPS35):c.285_287dup	VPS35	Duplication (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319275	NM_018206.6(VPS35):c.*287dup	VPS35	Duplication (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319274	NM_018206.6(VPS35):c.287_288insAAAC	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319273	NM_018206.6(VPS35):c.287_288insAAC	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319277	NM_018206.6(VPS35):c.*281CA[1]	VPS35	Microsatellite (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 2646486	NM_018206.6(VPS35):c.282_283insAAAAAAA	VPS35	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1711407	NM_018206.6(VPS35):c.282_283insAAAAAA	VPS35	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 886612	NM_018206.6(VPS35):c.*283C>A	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17 +1 more	GUncertain significance
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 319280	NM_018206.6(VPS35):c.*281delinsAAAAA	VPS35	Indel (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319279	NM_018206.6(VPS35):c.*281delinsAAAA	VPS35	Indel (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319281	NM_018206.6(VPS35):c.279_280insCAAA	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319282	NM_018206.6(VPS35):c.278_279insCAA	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319283	NM_018206.6(VPS35):c.277_278insCA	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319284	NM_018206.6(VPS35):c.276_277insCAA	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319286	NM_018206.6(VPS35):c.275_276insCAA	VPS35	Insertion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319285	NM_018206.6(VPS35):c.*276A>C	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 319287	NM_018206.6(VPS35):c.259_260dup	VPS35	Duplication (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 319288	NM_018206.6(VPS35):c.*258del	VPS35	Deletion (3 prime UTR variant)	Parkinson Disease, Dominant	GUncertain significance
Select item 886613	NM_018206.6(VPS35):c.*161C>T	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 886614	NM_018206.6(VPS35):c.*34A>G	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GLikely benign
Select item 3013386	NM_018206.6(VPS35):c.2364G>T (p.Gly788=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 487679	NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys)	VPS35 (E787K)	Single nucleotide variant (missense variant)	Parkinson disease 17	Gnot provided
Select item 3188912	NM_018206.6(VPS35):c.2355A>C (p.Glu785Asp)	VPS35 (E785D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886615	NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln)	VPS35 (E785Q)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 947902	NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr)	VPS35 (P784T)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1436205	NM_018206.6(VPS35):c.2339G>A (p.Arg780Gln)	VPS35 (R780Q)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 487678	NM_018206.6(VPS35):c.2320C>A (p.Leu774Met)	VPS35 (L774M)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GConflicting classifications of pathogenicity
Select item 1668953	NM_018206.6(VPS35):c.2316C>T (p.Asn772=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2047683	NM_018206.6(VPS35):c.2295G>C (p.Gln765His)	VPS35 (Q765H)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2277504	NM_018206.6(VPS35):c.2268T>A (p.Asn756Lys)	VPS35 (N756K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1328246	NM_018206.6(VPS35):c.2222A>C (p.Gln741Pro)	VPS35 (Q741P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183707	NM_018206.6(VPS35):c.2212-10dup	VPS35	Duplication (intron variant)	Parkinson disease 17	GLikely 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 887865	NM_018206.6(VPS35):c.2211+11T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GUncertain significance
Select item 487677	NM_018206.6(VPS35):c.2210C>T (p.Ala737Val)	VPS35 (A737V)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2716523	NM_018206.6(VPS35):c.2181T>C (p.Tyr727=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 707481	NM_018206.6(VPS35):c.2145A>G (p.Leu715=)	VPS35	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1621519	NM_018206.6(VPS35):c.2122A>C (p.Asn708His)	VPS35 (N708H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1470508	NM_018206.6(VPS35):c.2074G>A (p.Gly692Arg)	VPS35 (G692R)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 887866	NM_018206.6(VPS35):c.2073C>T (p.His691=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GUncertain significance
Select item 1532390	NM_018206.6(VPS35):c.2068-18C>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2142026	NM_018206.6(VPS35):c.2068-19C>T	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 1981920	NM_018206.6(VPS35):c.2067+14T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2721614	NM_018206.6(VPS35):c.2061G>C (p.Gly687=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 1485006	NM_018206.6(VPS35):c.2060G>A (p.Gly687Glu)	VPS35 (G687E)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1657629	NM_018206.6(VPS35):c.2049G>A (p.Thr683=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 3188911	NM_018206.6(VPS35):c.2048C>T (p.Thr683Met)	VPS35 (T683M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 704807	NM_018206.6(VPS35):c.2007T>C (p.Ala669=)	VPS35	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188910	NM_018206.6(VPS35):c.1963C>G (p.Leu655Val)	VPS35 (L655V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1166780	NM_018206.6(VPS35):c.1938C>T (p.His646=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17 +1 more	GBenign
Select item 472501	NM_018206.6(VPS35):c.1938= (p.His646=)	VPS35	Single nucleotide variant (no sequence alteration)	Parkinson disease 17	GBenign
Select item 319290	NM_018206.6(VPS35):c.1912A>T (p.Met638Leu)	VPS35 (M638L)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GUncertain significance
Select item 887867	NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala)	VPS35 (T634A)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1021992	NM_018206.6(VPS35):c.1895T>C (p.Ile632Thr)	VPS35 (I632T)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1155329	NM_018206.6(VPS35):c.1893C>T (p.Ile631=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 472500	NM_018206.6(VPS35):c.1881C>T (p.Ala627=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17 +1 more	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 487676	NM_018206.6(VPS35):c.1819A>G (p.Met607Val)	VPS35 (M607V)	Single nucleotide variant (missense variant)	Parkinson disease 17	Gnot provided
Select item 884711	NM_018206.6(VPS35):c.1809A>T (p.Ala603=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GConflicting classifications of pathogenicity
Select item 1359994	NM_018206.6(VPS35):c.1804G>A (p.Val602Ile)	VPS35 (V602I)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2719052	NM_018206.6(VPS35):c.1803A>G (p.Thr601=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2493893	NM_018206.6(VPS35):c.1802C>T (p.Thr601Ile)	VPS35 (T601I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 487675	NM_018206.6(VPS35):c.1796A>G (p.His599Arg)	VPS35 (H599R)	Single nucleotide variant (missense variant)	Parkinson disease 17	Gnot provided
Select item 2725671	NM_018206.6(VPS35):c.1795C>G (p.His599Asp)	VPS35 (H599D)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2236022	NM_018206.6(VPS35):c.1716C>G (p.Ile572Met)	VPS35 (I572M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 487674	NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr)	VPS35 (I560T)	Single nucleotide variant (missense variant)	Parkinson disease 17	Gnot provided
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 2054697	NM_018206.6(VPS35):c.1642A>G (p.Lys548Glu)	VPS35 (K548E)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2859840	NM_018206.6(VPS35):c.1586T>A (p.Leu529Gln)	VPS35 (L529Q)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 96727	NM_018206.6(VPS35):c.1576C>T (p.Arg526Cys)	VPS35 (R526C)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 487673	NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp)	VPS35 (R524W)	Single nucleotide variant (missense variant)	Parkinson disease 17	Gnot provided
Select item 1568189	NM_018206.6(VPS35):c.1557T>C (p.Ala519=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 579180	NM_018206.6(VPS35):c.1550T>G (p.Phe517Cys)	VPS35 (F517C)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1916253	NM_018206.6(VPS35):c.1541G>A (p.Arg514Gln)	VPS35 (R514Q)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1946516	NM_018206.6(VPS35):c.1538C>A (p.Ala513Glu)	VPS35 (A513E)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance

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