ClinVar for Gene (Select 65018) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 424

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379470	NM_032409.3(PINK1):c.839C>A (p.Ala280Asp)	PINK1, PINK1-AS (A280D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368942	NM_032409.3(PINK1):c.1252G>C (p.Val418Leu)	PINK1, PINK1-AS (V418L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367258	NM_032409.3(PINK1):c.977G>A (p.Arg326His)	PINK1, PINK1-AS (R326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342457	NM_032409.3(PINK1):c.904C>T (p.Arg302Cys)	PINK1, PINK1-AS (R302C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306666	NM_032409.3(PINK1):c.556A>C (p.Lys186Gln)	PINK1 (K186Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247755	NC_000001.10:g.(?_20960807)_(20964608_?)del	PINK1	Deletion	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3242199	NM_032409.3(PINK1):c.268_283del (p.Trp90fs)	PINK1 (W90fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 3237149	NM_032409.3(PINK1):c.263G>T (p.Arg88Leu)	PINK1 (R88L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 3213107	NM_032409.3(PINK1):c.806C>T (p.Ala269Val)	PINK1, PINK1-AS (A269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213106	NM_032409.3(PINK1):c.345G>C (p.Gln115His)	PINK1 (Q115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213104	NM_032409.3(PINK1):c.1576A>G (p.Lys526Glu)	PINK1, PINK1-AS (K526E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213103	NM_032409.3(PINK1):c.1472A>C (p.Gln491Pro)	PINK1, PINK1-AS (Q491P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213102	NM_032409.3(PINK1):c.1187T>G (p.Leu396Arg)	PINK1, PINK1-AS (L396R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213101	NM_032409.3(PINK1):c.1177A>C (p.Ser393Arg)	PINK1, PINK1-AS (S393R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3213100	NM_032409.3(PINK1):c.1006C>G (p.Pro336Ala)	PINK1, PINK1-AS (P336A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3031386	NM_032409.3(PINK1):c.1131C>T (p.Cys377=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	PINK1-related disorder	GLikely benign
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 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2663836	NM_032409.3(PINK1):c.943T>C (p.Phe315Leu)	PINK1, PINK1-AS (F315L)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 2638435	NM_032409.3(PINK1):c.241T>C (p.Leu81=)	PINK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628394	NM_032409.3(PINK1):c.960-2A>G	PINK1, PINK1-AS	Single nucleotide variant (splice acceptor variant)	PINK1-related disorder	GLikely pathogenic
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 2573958	NM_032409.3(PINK1):c.112G>A (p.Ala38Thr)	PINK1 (A38T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570716	NM_032409.3(PINK1):c.1220G>T (p.Arg407Leu)	PINK1, PINK1-AS (R407L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2543678	NM_032409.3(PINK1):c.448G>T (p.Gly150Cys)	PINK1 (G150C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502602	NM_032409.3(PINK1):c.823A>G (p.Ile275Val)	PINK1, PINK1-AS (I275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	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 2385354	NM_032409.3(PINK1):c.223G>T (p.Ala75Ser)	MIR6084, PINK1 (A75S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372094	NM_032409.3(PINK1):c.196C>T (p.Arg66Cys)	MIR6084, PINK1 (R66C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332811	NM_032409.3(PINK1):c.786G>C (p.Lys262Asn)	PINK1, PINK1-AS (K262N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283782	NM_032409.3(PINK1):c.998C>T (p.Thr333Ile)	PINK1, PINK1-AS (T333I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266108	NM_032409.3(PINK1):c.662T>C (p.Met221Thr)	PINK1 (M221T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241088	NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr)	PINK1, PINK1-AS (N367Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233309	NM_032409.3(PINK1):c.91T>G (p.Leu31Val)	PINK1 (L31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229752	NM_032409.3(PINK1):c.85T>G (p.Tyr29Asp)	PINK1 (Y29D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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-AS, PINK1	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 (non-coding transcript 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)	Inborn genetic diseases +1 more	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 +1 more	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

<< First< Prev

Page of 5