PTEN[all] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 4117

<< First< Prev

Page of 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 412482	NM_003000.3(SDHB):c.736A>G (p.Ile246Val)	SDHB (I246V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 412473	NM_003000.3(SDHB):c.644C>T (p.Ala215Val)	SDHB (A215V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 824010	NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)	SDHB (L121P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	SDHB-related condition +8 more	GBenign/Likely benign
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 1249706	NC_000001.11:g.20633253T>C	PINK1	Single nucleotide variant	not provided	GBenign
Select item 661098	NM_032409.3(PINK1):c.13C>T (p.Gln5Ter)	PINK1 (Q5*)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
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 1356897	NM_032409.3(PINK1):c.25C>G (p.Arg9Gly)	PINK1 (R9G)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 291205	NM_032409.3(PINK1):c.31C>A (p.Leu11Met)	PINK1 (L11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374264	NM_032409.3(PINK1):c.47C>T (p.Ala16Val)	PINK1 (A16V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 447940	NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)	PINK1 (G23S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1602646	NM_032409.3(PINK1):c.69C>G (p.Gly23=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1454290	NM_032409.3(PINK1):c.85_106del (p.Tyr29fs)	PINK1 (Y29fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 1016581	NM_032409.3(PINK1):c.76G>C (p.Gly26Arg)	PINK1 (G26R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	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 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 294997	NM_032409.3(PINK1):c.88G>C (p.Gly30Arg)	PINK1 (G30R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1399865	NM_032409.3(PINK1):c.101C>G (p.Pro34Arg)	PINK1 (P34R)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2573958	NM_032409.3(PINK1):c.112G>A (p.Ala38Thr)	PINK1 (A38T)	Single nucleotide variant (missense variant)	not provided	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 1407492	NM_032409.3(PINK1):c.116G>T (p.Gly39Val)	PINK1 (G39V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 939290	NM_032409.3(PINK1):c.124C>T (p.Arg42Cys)	PINK1 (R42C)	Single nucleotide variant (missense variant)	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 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 1510457	NM_032409.3(PINK1):c.141C>G (p.Gly47=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 703431	NM_032409.3(PINK1):c.153A>G (p.Gly51=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 586235	NM_032409.3(PINK1):c.155C>T (p.Pro52Leu)	MIR6084, PINK1 (P52L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1030969	NM_032409.3(PINK1):c.161C>A (p.Ala54Glu)	MIR6084, PINK1 (A54E)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 294998	NM_032409.3(PINK1):c.165G>A (p.Glu55=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GConflicting classifications of pathogenicity
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 374446	NM_032409.3(PINK1):c.169C>T (p.Arg57Cys)	MIR6084, PINK1 (R57C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1644553	NM_032409.3(PINK1):c.177C>T (p.Val59=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	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 262026	NM_032409.3(PINK1):c.189C>T (p.Leu63=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 2372094	NM_032409.3(PINK1):c.196C>T (p.Arg66Cys)	PINK1, MIR6084 (R66C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1416013	NM_032409.3(PINK1):c.199C>T (p.Leu67Phe)	MIR6084, PINK1 (L67F)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 874873	NM_032409.3(PINK1):c.218C>T (p.Ser73Leu)	MIR6084, PINK1 (S73L)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
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 2638435	NM_032409.3(PINK1):c.241T>C (p.Leu81=)	PINK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707527	NM_032409.3(PINK1):c.267C>T (p.Ala89=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GConflicting classifications of pathogenicity
Select item 664114	NM_032409.3(PINK1):c.273del (p.Cys92fs)	PINK1 (C92fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 875806	NM_032409.3(PINK1):c.279G>C (p.Ala93=)	PINK1	Single nucleotide variant (synonymous variant)	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 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 2918812	NM_032409.3(PINK1):c.309del (p.Phe104fs)	PINK1 (F104fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 1405928	NM_032409.3(PINK1):c.311T>G (p.Phe104Cys)	PINK1 (F104C)	Single nucleotide variant (missense variant)	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 1605915	NM_032409.3(PINK1):c.315G>A (p.Gly105=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 631589	NM_032409.3(PINK1):c.322del (p.Leu108fs)	PINK1 (L108fs)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
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 1524912	NM_032409.3(PINK1):c.338_346del (p.Glu113_Gln115del)	PINK1	Deletion (inframe_deletion)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 294999	NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)	PINK1 (Q115L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 1447252	NM_032409.3(PINK1):c.371C>T (p.Ala124Val)	PINK1 (A124V)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	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 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 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 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 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 875807	NM_032409.3(PINK1):c.387+14G>A	PINK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 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
Select item 1244741	NM_032409.3(PINK1):c.388-269G>A	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190809	NM_032409.3(PINK1):c.388-93C>T	PINK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288766	NM_032409.3(PINK1):c.388-65_388-64del	PINK1	Deletion (intron variant)	not provided	GBenign
Select item 1268407	NM_032409.3(PINK1):c.388-65C>G	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1472135	NM_032409.3(PINK1):c.388-10C>G	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GConflicting classifications of pathogenicity
Select item 262027	NM_032409.3(PINK1):c.388-7A>G	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GBenign
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 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 1021120	NM_032409.3(PINK1):c.388-3C>T	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
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 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 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 875808	NM_032409.3(PINK1):c.414G>A (p.Pro138=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GConflicting classifications of pathogenicity
Select item 283173	NM_032409.3(PINK1):c.417G>T (p.Gly139=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
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 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 1110165	NM_032409.3(PINK1):c.426G>A (p.Pro142=)	PINK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1556563	NM_032409.3(PINK1):c.429G>A (p.Leu143=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 286781	NM_032409.3(PINK1):c.434C>T (p.Thr145Met)	PINK1 (T145M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1130785	NM_032409.3(PINK1):c.435G>A (p.Thr145=)	PINK1	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1514024	NM_032409.3(PINK1):c.439C>T (p.Arg147Cys)	PINK1 (R147C)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	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 846127	NM_032409.3(PINK1):c.449G>A (p.Gly150Asp)	PINK1 (G150D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 931833	NM_032409.3(PINK1):c.454C>T (p.Arg152Trp)	PINK1 (R152W)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1801048	NM_032409.3(PINK1):c.472A>G (p.Ile158Val)	PINK1 (I158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 42