Related gene-specific medical variations for Gene (Select 5071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218874	NM_004562.3(PRKN):c.472C>A (p.Gln158Lys)	LOC126859871, PRKN (Q158K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218873	NM_004562.3(PRKN):c.463C>G (p.Gln155Glu)	LOC126859871, PRKN (Q155E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2970960	NM_004562.3(PRKN):c.486C>T (p.Leu162=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2909046	NM_004562.3(PRKN):c.460T>C (p.Cys154Arg)	LOC126859871, PRKN (C154R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832304	NM_004562.3(PRKN):c.7+19G>C	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740215	NM_004562.3(PRKN):c.507C>T (p.Cys169=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685218	GRCh37/hg19 6q26(chr6:162771917-162875706)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 2685217	GRCh37/hg19 6q26(chr6:162686408-162912388)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 2685216	GRCh37/hg19 6q26(chr6:162442896-162716261)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 2684461	GRCh37/hg19 6q26(chr6:162358262-162702832)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 2620095	NM_004562.3(PRKN):c.470T>C (p.Val157Ala)	LOC126859871, PRKN (V157A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435249	NM_004562.3(PRKN):c.44T>C (p.Val15Ala)	PRKN (V15A)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 2164983	NM_004562.3(PRKN):c.534+10T>C	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137289	NM_004562.3(PRKN):c.519G>A (p.Thr173=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078738	NM_004562.3(PRKN):c.490G>A (p.Val164Ile)	PRKN, LOC126859871 (V164I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899924	NM_004562.3(PRKN):c.7+12C>A	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1805773	NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)	LOC126859871, PRKN (R163K)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 1801397	NM_004562.3(PRKN):c.171+62801_171+62835del	PRKN	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801396	NM_004562.3(PRKN):c.734+77606_734+77826del	PRKN	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1594103	NM_004562.3(PRKN):c.7+10T>G	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535919	NM_004562.3(PRKN):c.413-18C>T	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374896	NC_000006.11:g.(?_163148674)_(163148700_?)dup	PACRG, PRKN	Duplication	not provided	GUncertain significance
Select item 1340945	GRCh37/hg19 6q26(chr6:162841880-162982289)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 1340909	GRCh37/hg19 6q26(chr6:162813663-162928416)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 1340638	GRCh37/hg19 6q26(chr6:162802027-162990128)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 1340386	GRCh37/hg19 6q26(chr6:162672821-162958851)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 1340069	GRCh37/hg19 6q26(chr6:162672820-163007394)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 1319101	NM_004562.3(PRKN):c.-20C>T	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1300469	NM_004562.3(PRKN):c.7+5G>A	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1279785	NM_004562.3(PRKN):c.413-266G>A	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257986	NM_004562.3(PRKN):c.413-82C>A	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220094	NM_004562.3(PRKN):c.7+111G>A	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1172527	NM_004562.3(PRKN):c.491del (p.Val164fs)	LOC126859871, PRKN (V164fs)	Deletion (frameshift variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 1112118	NM_004562.3(PRKN):c.447T>C (p.Tyr149=)	LOC126859871, PRKN	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1052097	NM_004562.3(PRKN):c.518C>T (p.Thr173Met)	LOC126859871, PRKN (T173M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1013530	NM_004562.3(PRKN):c.477G>A (p.Pro159=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 994922	NM_004562.3(PRKN):c.743del (p.Val248fs)	PRKN (V220fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 979590	GRCh37/hg19 6q26(chr6:162442895-162966685)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 979586	GRCh37/hg19 6q26(chr6:162434342-162551099)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 979585	GRCh37/hg19 6q26(chr6:162369855-162680559)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 979584	GRCh37/hg19 6q26(chr6:162212864-162530432)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 979583	GRCh37/hg19 6q26(chr6:162854370-162940238)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 931482	NM_004562.3(PRKN):c.824G>A (p.Arg275Gln)	PRKN (R275Q +2 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 906286	NM_004562.3(PRKN):c.-85G>A	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906285	NM_004562.3(PRKN):c.-78C>A	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 906284	NM_004562.3(PRKN):c.-57G>C	PRKN, PACRG	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 814902	GRCh37/hg19 6q26(chr6:162673130-163007394)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 814900	GRCh37/hg19 6q26(chr6:162542083-162802027)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 814899	GRCh37/hg19 6q26(chr6:162513435-162799405)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 814898	GRCh37/hg19 6q26(chr6:162496034-162770009)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 814896	GRCh37/hg19 6q26(chr6:162422242-162643440)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 814895	GRCh37/hg19 6q26(chr6:162203626-162305145)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 814894	GRCh37/hg19 6q26(chr6:162178475-162289828)x1	PRKN	Copy number loss	not provided	GLikely benign
Select item 814893	GRCh37/hg19 6q26(chr6:162125751-162347138)x1	PRKN	Copy number loss	not provided	GLikely benign
Select item 814892	GRCh37/hg19 6q26(chr6:162064527-162456523)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 814891	GRCh37/hg19 6q26(chr6:161963572-162131676)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 814890	GRCh37/hg19 6q26(chr6:161836241-162000352)x1	PRKN	Copy number loss	not provided	GLikely benign
Select item 810050	GRCh37/hg19 6q26(chr6:162683557-162683797)x3	PRKN	Copy number gain	not provided	GLikely pathogenic
Select item 805243	NM_004562.3(PRKN):c.2T>C (p.Met1Thr)	PACRG, PRKN (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 744898	NM_004562.3(PRKN):c.413-9C>T	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 696404	NM_004562.3(PRKN):c.531C>A (p.Thr177=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 688864	GRCh37/hg19 6q26(chr6:162511253-162793290)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 688838	GRCh37/hg19 6q26(chr6:162614287-162660066)x1	PRKN	Copy number loss	not provided	GPathogenic
Select item 688782	GRCh37/hg19 6q26(chr6:162462926-162821421)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 688714	GRCh37/hg19 6q26(chr6:162722580-162895752)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 688705	GRCh37/hg19 6q26(chr6:162587891-162838225)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 688652	GRCh37/hg19 6q26(chr6:162716501-162912831)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 688434	GRCh37/hg19 6q26(chr6:162690884-162904764)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 688433	GRCh37/hg19 6q26(chr6:162559497-162618048)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 688325	GRCh37/hg19 6q26(chr6:162658972-162754606)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 688311	GRCh37/hg19 6q26(chr6:162192855-162287747)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687950	GRCh37/hg19 6q26(chr6:162520918-162729381)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687908	GRCh37/hg19 6q26(chr6:162238814-162439952)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687890	GRCh37/hg19 6q26(chr6:162615960-162895692)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687842	GRCh37/hg19 6q26(chr6:162672841-163008515)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687664	GRCh37/hg19 6q26(chr6:162702831-163001286)x4	PRKN	Copy number gain	not provided	GUncertain significance
Select item 687544	GRCh37/hg19 6q26(chr6:162666841-162833215)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687469	GRCh37/hg19 6q26(chr6:162422086-162651797)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 687027	GRCh37/hg19 6q26(chr6:162716501-162917677)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 686832	GRCh37/hg19 6q26(chr6:162716260-162917677)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 686324	GRCh37/hg19 6q26(chr6:161904718-162038722)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 686206	GRCh37/hg19 6q26(chr6:162716501-162919714)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 686153	GRCh37/hg19 6q26(chr6:162788575-162995604)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 686143	GRCh37/hg19 6q26(chr6:162864093-162889514)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 685731	GRCh37/hg19 6q26(chr6:162708066-162947278)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 685678	GRCh37/hg19 6q26(chr6:162529119-162681967)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 685462	GRCh37/hg19 6q26(chr6:162672841-162928416)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 685206	GRCh37/hg19 6q26(chr6:162638367-162727465)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 685200	GRCh37/hg19 6q26(chr6:162716501-162918976)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 685191	GRCh37/hg19 6q26(chr6:162250682-162555068)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 684960	GRCh37/hg19 6q26(chr6:162605984-162664335)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 684937	GRCh37/hg19 6q26(chr6:162672841-162917677)x3	PRKN	Copy number gain	not provided	GUncertain significance
Select item 659916	NM_004562.3(PRKN):c.517A>G (p.Thr173Ala)	PRKN, LOC126859871 (T173A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 655312	NM_004562.3(PRKN):c.440A>T (p.Tyr147Phe)	LOC126859871, PRKN (Y147F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 579609	NM_004562.3(PRKN):c.4A>G (p.Ile2Val)	PACRG, PRKN (I2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 573661	NM_004562.3(PRKN):c.7+5G>T	PRKN, PACRG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 563254	GRCh37/hg19 6q26(chr6:162838224-163036171)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 563253	GRCh37/hg19 6q26(chr6:162745744-163117879)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 563251	GRCh37/hg19 6q26(chr6:162573253-162693547)x1	PRKN	Copy number loss	not provided	GUncertain significance
Select item 563250	GRCh37/hg19 6q26(chr6:162545871-163112949)x3	PRKN	Copy number gain	not provided	GUncertain significance

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