ClinVar for MedGen (Select 481763) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019343	NM_018206.6(VPS35):c.1369-12C>T	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 3017062	NM_018206.6(VPS35):c.1304G>A (p.Ser435Asn)	VPS35 (S435N)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
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 3004763	NM_018206.6(VPS35):c.1277A>C (p.Glu426Ala)	VPS35 (E426A)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2973547	NM_018206.6(VPS35):c.1291_1292delinsTT (p.Glu431Leu)	VPS35 (E431L)	Indel (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2967776	NM_018206.6(VPS35):c.883G>A (p.Val295Met)	VPS35 (V295M)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2913241	NM_018206.6(VPS35):c.1482C>T (p.Phe494=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2909595	NM_018206.6(VPS35):c.915-17G>T	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2887073	NM_018206.6(VPS35):c.942T>C (p.Asp314=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2882349	NM_018206.6(VPS35):c.1194C>T (p.Leu398=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2870412	NM_018206.6(VPS35):c.755A>G (p.Asn252Ser)	VPS35 (N252S)	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 2847893	NM_018206.6(VPS35):c.1119A>G (p.Leu373=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2825904	NM_018206.6(VPS35):c.507-14C>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2814831	NM_018206.6(VPS35):c.1537G>C (p.Ala513Pro)	VPS35 (A513P)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2811607	NM_018206.6(VPS35):c.1331T>C (p.Val444Ala)	VPS35 (V444A)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2806049	NM_018206.6(VPS35):c.3+17C>T	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
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 2723926	NM_018206.6(VPS35):c.100C>T (p.Leu34=)	VPS35	Single nucleotide variant (synonymous 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 2719052	NM_018206.6(VPS35):c.1803A>G (p.Thr601=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2718110	NM_018206.6(VPS35):c.762G>A (p.Arg254=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
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 2578765	NM_018206.6(VPS35):c.199+8T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17 +1 more	GBenign
Select item 2420477	NM_018206.6(VPS35):c.267G>A (p.Arg89=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2415771	NM_018206.6(VPS35):c.1369-5T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2183707	NM_018206.6(VPS35):c.2212-10dup	VPS35	Duplication (intron variant)	Parkinson disease 17	GLikely benign
Select item 2181212	NM_018206.6(VPS35):c.144T>C (p.Asn48=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2152149	NM_018206.6(VPS35):c.978T>C (p.Asp326=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2145481	NM_018206.6(VPS35):c.721-16G>A	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 2141266	NM_018206.6(VPS35):c.894A>C (p.Ile298=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2140679	NM_018206.6(VPS35):c.4-18G>A	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2124844	NM_018206.6(VPS35):c.1226dup (p.Tyr409Ter)	VPS35 (Y409*)	Duplication (nonsense)	Parkinson disease 17	GUncertain significance
Select item 2086689	NM_018206.6(VPS35):c.106A>G (p.Lys36Glu)	VPS35 (K36E)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2073583	NM_018206.6(VPS35):c.935G>T (p.Arg312Leu)	VPS35 (R312L)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
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 2049243	NM_018206.6(VPS35):c.285C>T (p.Tyr95=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 2049084	NM_018206.6(VPS35):c.1191A>G (p.Glu397=)	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 2047006	NM_018206.6(VPS35):c.1427T>C (p.Val476Ala)	VPS35 (V476A)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2026773	NM_018206.6(VPS35):c.199+14G>T	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2023947	NM_018206.6(VPS35):c.1120G>A (p.Glu374Lys)	VPS35 (E374K)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 2023092	NM_018206.6(VPS35):c.103-17T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 2005354	NM_018206.6(VPS35):c.340G>A (p.Val114Ile)	VPS35 (V114I)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1981920	NM_018206.6(VPS35):c.2067+14T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
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 1953047	NM_018206.6(VPS35):c.102+4A>G	VPS35	Single nucleotide variant (intron 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
Select item 1943738	NM_018206.6(VPS35):c.1368+15A>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GBenign
Select item 1919112	NM_018206.6(VPS35):c.914+16A>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
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 1668953	NM_018206.6(VPS35):c.2316C>T (p.Asn772=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
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 1655702	NM_018206.6(VPS35):c.4-15T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 1634971	NM_018206.6(VPS35):c.1368+17G>A	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 1621519	NM_018206.6(VPS35):c.2122A>C (p.Asn708His)	VPS35 (N708H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1608805	NM_018206.6(VPS35):c.915-16T>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GBenign/Likely benign
Select item 1587650	NM_018206.6(VPS35):c.222G>A (p.Leu74=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 1569613	NM_018206.6(VPS35):c.1002A>G (p.Thr334=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
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 1565051	NM_018206.6(VPS35):c.914+11C>A	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 1562402	NM_018206.6(VPS35):c.9A>C (p.Thr3=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 1532390	NM_018206.6(VPS35):c.2068-18C>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 1521803	NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr)	VPS35 (F421Y)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1489932	NM_018206.6(VPS35):c.110A>G (p.Asn37Ser)	VPS35 (N37S)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
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 1470508	NM_018206.6(VPS35):c.2074G>A (p.Gly692Arg)	VPS35 (G692R)	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 1412147	NC_000016.9:g.(?_46694384)_(46782105_?)dup	MYLK3, ORC6 +1 more	Duplication	Parkinson disease 17	GUncertain significance
Select item 1375085	NM_018206.6(VPS35):c.977A>T (p.Asp326Val)	VPS35 (D326V)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 1369465	NM_018206.6(VPS35):c.1495C>T (p.Arg499Cys)	VPS35 (R499C)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
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 1356064	NM_018206.6(VPS35):c.1142A>G (p.Asn381Ser)	VPS35 (N381S)	Single nucleotide variant (missense variant)	Parkinson disease 17 +1 more	GUncertain significance
Select item 1166780	NM_018206.6(VPS35):c.1938C>T (p.His646=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GBenign
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 1150728	NM_018206.6(VPS35):c.1369-9A>G	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GLikely benign
Select item 1088814	NM_018206.6(VPS35):c.1371G>A (p.Val457=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 1083536	NM_018206.6(VPS35):c.1290C>T (p.Tyr430=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign
Select item 1050911	NM_018206.6(VPS35):c.13C>T (p.Gln5Ter)	VPS35 (Q5*)	Single nucleotide variant (nonsense)	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 961428	NM_018206.6(VPS35):c.993G>T (p.Gln331His)	VPS35 (Q331H)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 960311	NM_018206.6(VPS35):c.506+4A>C	VPS35	Single nucleotide variant (intron 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 887867	NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala)	VPS35 (T634A)	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 887865	NM_018206.6(VPS35):c.2211+11T>C	VPS35	Single nucleotide variant (intron variant)	Parkinson disease 17	GUncertain significance
Select item 886664	NM_018206.6(VPS35):c.-35C>G	VPS35	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 17	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 886614	NM_018206.6(VPS35):c.*34A>G	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GLikely benign
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 886612	NM_018206.6(VPS35):c.*283C>A	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 886610	NM_018206.6(VPS35):c.*345T>G	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GUncertain significance
Select item 885653	NM_018206.6(VPS35):c.505G>C (p.Asp169His)	VPS35 (D169H)	Single nucleotide variant (missense variant)	Parkinson disease 17	GUncertain significance
Select item 885652	NM_018206.6(VPS35):c.648G>A (p.Leu216=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GConflicting classifications of pathogenicity
Select item 885588	NM_018206.6(VPS35):c.*422C>A	VPS35	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 17	GBenign
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 884714	NM_018206.6(VPS35):c.1268C>T (p.Pro423Leu)	VPS35 (P423L)	Single nucleotide variant (missense variant)	Parkinson disease 17	GBenign
Select item 884713	NM_018206.6(VPS35):c.1317T>C (p.Tyr439=)	VPS35	Single nucleotide variant (synonymous variant)	Parkinson disease 17	GLikely benign

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