ClinVar for MedGen (Select 342982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067874	NM_032409.3(PINK1):c.1288G>C (p.Asp430His)	PINK1, PINK1-AS (D430H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 3004858	NM_032409.3(PINK1):c.285T>G (p.Pro95=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2988476	NM_032409.3(PINK1):c.606A>G (p.Gly202=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2984111	NM_032409.3(PINK1):c.788G>A (p.Arg263Lys)	PINK1, PINK1-AS (R263K)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2918812	NM_032409.3(PINK1):c.309del (p.Phe104fs)	PINK1 (F104fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2907821	NM_032409.3(PINK1):c.531A>G (p.Thr177=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2896429	NM_032409.3(PINK1):c.630G>A (p.Gly210=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2854786	NM_032409.3(PINK1):c.668A>T (p.Asn223Ile)	PINK1 (N223I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2854318	NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer)	PINK1, PINK1-AS	Insertion (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2844121	NM_032409.3(PINK1):c.426G>C (p.Pro142=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2826961	NM_032409.3(PINK1):c.776+7G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2815001	NM_032409.3(PINK1):c.776+1G>A	PINK1	Single nucleotide variant (splice donor variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2767625	NM_032409.3(PINK1):c.1488+14del	PINK1, PINK1-AS	Deletion (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GBenign
Select item 2767231	NM_032409.3(PINK1):c.88G>A (p.Gly30Ser)	PINK1 (G30S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2742308	NM_032409.3(PINK1):c.1252-2_1272del	PINK1, PINK1-AS	Deletion (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2740590	NM_032409.3(PINK1):c.63C>T (p.Phe21=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2739036	NM_032409.3(PINK1):c.24C>T (p.Gly8=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2733164	NM_032409.3(PINK1):c.741G>A (p.Val247=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2731770	NM_032409.3(PINK1):c.413C>A (p.Pro138Gln)	PINK1 (P138Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2724783	NM_032409.3(PINK1):c.113C>T (p.Ala38Val)	PINK1 (A38V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2720339	NM_032409.3(PINK1):c.960-4C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2713011	NM_032409.3(PINK1):c.966C>G (p.Pro322=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2627455	NM_032409.3(PINK1):c.1099A>G (p.Asn367Asp)	PINK1, PINK1-AS (N367D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2627454	NM_032409.3(PINK1):c.385C>T (p.Gln129Ter)	PINK1 (Q129*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2434866	NM_032409.3(PINK1):c.776+2110G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2434865	NM_032409.3(PINK1):c.776+2032G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2427034	NC_000001.10:g.(?_20972033)_(20972236_?)del	PINK1	Deletion	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2427033	NC_000001.10:g.(?_20974682)_(20975609_?)del	PINK1	Deletion	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	KIF17, LDLRAD2 +49 more	Duplication	Congenital disorder of glycosylation type Ir +2 more	GUncertain significance
Select item 2415649	NM_032409.3(PINK1):c.675+9C>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2202711	NM_032409.3(PINK1):c.377A>C (p.Gln126Pro)	PINK1 (Q126P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2202710	NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg)	MIR6084, PINK1	Duplication (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2201711	NM_032409.3(PINK1):c.776+18G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2200057	NM_032409.3(PINK1):c.1130G>T (p.Cys377Phe)	PINK1, PINK1-AS (C377F)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2193353	NM_032409.3(PINK1):c.1252-18C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2193046	NM_032409.3(PINK1):c.1123+11G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2172555	NM_032409.3(PINK1):c.1510G>A (p.Ala504Thr)	PINK1, PINK1-AS (A504T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2169276	NM_032409.3(PINK1):c.385C>G (p.Gln129Glu)	PINK1 (Q129E)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2165893	NM_032409.3(PINK1):c.1356C>T (p.Pro452=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2163895	NM_032409.3(PINK1):c.599C>T (p.Ala200Val)	PINK1 (A200V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2163091	NM_032409.3(PINK1):c.654C>T (p.Ile218=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2161607	NM_032409.3(PINK1):c.398C>T (p.Thr133Ile)	PINK1 (T133I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2161606	NM_032409.3(PINK1):c.388-3C>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2161596	NM_032409.3(PINK1):c.616G>A (p.Glu206Lys)	PINK1 (E206K)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2160851	NM_032409.3(PINK1):c.288C>G (p.Cys96Trp)	PINK1 (C96W)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2157524	NM_032409.3(PINK1):c.1107T>C (p.Leu369=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2155489	NM_032409.3(PINK1):c.1352A>T (p.Asn451Ile)	PINK1, PINK1-AS (N451I)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2149675	NM_032409.3(PINK1):c.1488+14C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2148686	NM_032409.3(PINK1):c.754G>A (p.Glu252Lys)	PINK1 (E252K)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2143189	NM_032409.3(PINK1):c.1123+12C>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2142468	NM_032409.3(PINK1):c.173G>A (p.Arg58Lys)	MIR6084, PINK1 (R58K)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2137434	NM_032409.3(PINK1):c.314G>T (p.Gly105Val)	PINK1 (G105V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2135841	NM_032409.3(PINK1):c.913C>G (p.Pro305Ala)	PINK1, PINK1-AS (P305A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2123741	NM_032409.3(PINK1):c.1252-20C>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2116760	NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs)	PINK1, PINK1-AS (L511fs)	Duplication (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2105027	NM_032409.3(PINK1):c.425C>T (p.Pro142Leu)	PINK1 (P142L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2103886	NM_032409.3(PINK1):c.960-8T>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2099196	NM_032409.3(PINK1):c.676-17C>G	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2075371	NM_032409.3(PINK1):c.837C>T (p.Arg279=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2064711	NM_032409.3(PINK1):c.413C>G (p.Pro138Arg)	PINK1 (P138R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2060806	NM_032409.3(PINK1):c.737G>A (p.Arg246Gln)	PINK1 (R246Q)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2060219	NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp)	PINK1, PINK1-AS (G424D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2048558	NM_032409.3(PINK1):c.364G>C (p.Val122Leu)	PINK1 (V122L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2047254	NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro)	MIR6084, PINK1 (R68P)	Indel (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2043496	NM_032409.3(PINK1):c.710del (p.Met237fs)	PINK1 (M237fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2043218	NM_032409.3(PINK1):c.65C>T (p.Thr22Met)	PINK1 (T22M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2042776	NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter)	PINK1-AS, PINK1 (R501*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2042262	NM_032409.3(PINK1):c.1265G>A (p.Arg422His)	PINK1, PINK1-AS (R422H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 2042117	NM_032409.3(PINK1):c.1273C>T (p.Pro425Ser)	PINK1, PINK1-AS (P425S)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2040687	NM_032409.3(PINK1):c.387+15G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2040644	NM_032409.3(PINK1):c.328C>A (p.Leu110Ile)	PINK1 (L110I)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2040476	NM_032409.3(PINK1):c.1488+20C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2037709	NM_032409.3(PINK1):c.556A>G (p.Lys186Glu)	PINK1 (K186E)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 2037708	NM_032409.3(PINK1):c.388-5C>T	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2028421	NM_032409.3(PINK1):c.388-18A>G	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2020503	NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter)	PINK1, PINK1-AS (Q534*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2020365	NM_032409.3(PINK1):c.1398C>T (p.Tyr466=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1987480	NM_032409.3(PINK1):c.387+5G>C	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1985654	NM_032409.3(PINK1):c.1560G>A (p.Lys520=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1983417	NM_032409.3(PINK1):c.1176G>C (p.Glu392Asp)	PINK1, PINK1-AS (E392D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1983019	NM_032409.3(PINK1):c.853G>A (p.Val285Met)	PINK1, PINK1-AS (V285M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1982487	NM_032409.3(PINK1):c.1124-10T>C	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1974976	NM_032409.3(PINK1):c.1367A>G (p.Gln456Arg)	PINK1, PINK1-AS (Q456R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1974966	NM_032409.3(PINK1):c.639C>T (p.Ala213=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1964712	NM_032409.3(PINK1):c.384C>A (p.Ile128=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1962723	NM_032409.3(PINK1):c.1099A>C (p.Asn367His)	PINK1, PINK1-AS (N367H)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1957746	NM_032409.3(PINK1):c.202C>T (p.Arg68Cys)	PINK1, MIR6084 (R68C)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1956749	NM_032409.3(PINK1):c.1631_1632delinsCT (p.Leu544Pro)	PINK1, PINK1-AS (L544P)	Indel (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1951123	NM_032409.3(PINK1):c.129G>A (p.Gly43=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1929360	NM_032409.3(PINK1):c.512A>G (p.Tyr171Cys)	PINK1 (Y171C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1927619	NM_032409.3(PINK1):c.1123+15C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1927618	NM_032409.3(PINK1):c.184G>C (p.Gly62Arg)	MIR6084, PINK1 (G62R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1922868	NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr)	PINK1, PINK1-AS (P289T)	Indel (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1719588	NM_032409.3(PINK1):c.1499C>G (p.Ala500Gly)	PINK1, PINK1-AS (A500G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1699183	NM_032409.3(PINK1):c.898C>T (p.Pro300Ser)	PINK1, PINK1-AS (P300S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1698421	NM_032409.3(PINK1):c.158G>A (p.Gly53Asp)	MIR6084, PINK1 (G53D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1675350	NM_032409.3(PINK1):c.139G>C (p.Gly47Arg)	MIR6084, PINK1 (G47R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1674719	NM_032409.3(PINK1):c.736C>A (p.Arg246=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1670253	NM_032409.3(PINK1):c.1719C>T (p.Leu573=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1657185	NM_032409.3(PINK1):c.387+20A>G	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GBenign/Likely benign

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