LOC126859871[gene] - ClinVar

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Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	C6orf118, C6orf120 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +299 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +297 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +277 more	Copy number loss	See cases	GPathogenic
Select item 59548	GRCh38/hg38 6q26(chr6:161289959-162789916)x3	LOC105378098, LOC121132714 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +254 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 7034	NM_004562.2(PRKN):c.172-?_871+?del	LOC126859869, LOC126859870 +2 more	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 2499665	GRCh38/hg38 6q26(chr6:161896065-162548892)	PRKN, LOC126859869 +2 more	Copy number loss	See cases	GUncertain significance
Select item 545313	NC_000006.12:g.(?_161966350)_(162292493_?)del	LOC126859869, LOC126859870 +2 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545314	NC_000006.12:g.(?_161982200)_(162323320_?)del	LOC126859869, LOC126859870 +2 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	AFDN, AFDN-DT +247 more	Copy number loss	See cases	GPathogenic
Select item 154543	GRCh38/hg38 6q26(chr6:162086023-162820579)x3	LOC126859870, LOC126859871 +2 more	Copy number gain	See cases	GUncertain significance
Select item 545317	NC_000006.12:g.(?_162088360)_(162527858_?)del	LOC126859870, LOC126859871 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 148470	GRCh38/hg38 6q26(chr6:162120320-162668371)x3	LOC126859871, PRKN	Copy number gain	See cases	GLikely benign
Select item 147416	GRCh38/hg38 6q26(chr6:162120320-162629371)x3	LOC126859871, PRKN	Copy number gain	See cases	GUncertain significance
Select item 144901	GRCh38/hg38 6q26(chr6:162120320-162356161)x1	LOC126859871, PRKN	Copy number loss	See cases	GBenign
Select item 155561	GRCh38/hg38 6q26(chr6:162124839-162738363)x3	LOC126859871, PACRG +1 more	Copy number gain	See cases	GUncertain significance
Select item 545318	NC_000006.12:g.(?_162144053)_(162229459_?)del	LOC126859871, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 545319	NC_000006.12:g.(?_162145541)_(162226576_?)del	LOC126859871, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 545320	NC_000006.12:g.(?_162151583)_(162270607_?)del	LOC126859871, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 151612	GRCh38/hg38 6q26(chr6:162155203-162356161)x1	LOC126859871, PRKN	Copy number loss	See cases	GBenign
Select item 996950	NC_000006.12:g.162158041_162743641dup	LOC126859871, PACRG +1 more	Duplication	See cases	GUncertain significance
Select item 545321	NC_000006.12:g.(?_162162293)_(162311859_?)del	LOC126859871, PRKN	Deletion	Autism	GLikely pathogenic
Select item 58832	GRCh38/hg38 6q26(chr6:162163268-162378349)x1	LOC126859871, PRKN	Copy number loss	See cases	GUncertain significance
Select item 146832	GRCh38/hg38 6q26(chr6:162163288-162819968)x3	LOC126859871, PACRG +1 more	Copy number gain	See cases	GUncertain significance
Select item 545322	NC_000006.12:g.(?_162166123)_(162288233_?)del	LOC126859871, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 545323	NC_000006.12:g.(?_162184117)_(162211182_?)del	LOC126859871, PRKN	Deletion	Autism	GLikely pathogenic
Select item 144917	GRCh38/hg38 6q26(chr6:162184862-162273766)x1	LOC126859871, PRKN	Copy number loss	See cases	GBenign
Select item 545324	NC_000006.12:g.(?_162194743)_(162324250_?)del	LOC126859871, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 58833	GRCh38/hg38 6q26(chr6:162195999-162693004)x1	LOC126859871, PRKN	Copy number loss	See cases	GUncertain significance
Select item 545325	NC_000006.12:g.(?_162200873)_(162544554_?)del	LOC126859871, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 560128	Single allele	LOC126859871, PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GLikely pathogenic
Select item 662856	NC_000006.11:g.(?_162622143)_(163148721_?)dup	LOC126859871, PACRG +1 more	Duplication	not provided	GUncertain significance
Select item 468579	NC_000006.12:g.(?_162201111)_(162262785_?)del	LOC126859871, PRKN	Deletion	not provided	GPathogenic
Select item 468578	NC_000006.12:g.(?_162201111)_(162201272_?)del	LOC126859871, PRKN	Deletion	not provided	GPathogenic
Select item 2164983	NM_004562.3(PRKN):c.534+10T>C	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 651253	NC_000006.11:g.(?_162622153)_(162683807_?)dup	LOC126859871, PRKN	Duplication	not provided	GUncertain significance
Select item 650192	NC_000006.12:g.(?_162201121)_(162262775_?)del	LOC126859871, PRKN	Deletion	not provided	GPathogenic
Select item 417461	NC_000006.11:g.(?_162622163)_(162622284_?)dup	LOC126859871, PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 417459	NC_000006.12:g.(?_162201131)_(162443473_?)del	LOC126859871, PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 7035	NM_004562.2(PRKN):c.413-?_534+?del	LOC126859871, PRKN	Deletion	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
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 356019	NM_004562.3(PRKN):c.522C>T (p.Leu174=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GConflicting classifications of pathogenicity
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 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 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 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 41223	NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)	LOC126859871, PRKN (S167N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GBenign/Likely 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 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 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 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 7043	NM_004562.3(PRKN):c.483A>T (p.Lys161Asn)	LOC126859871, PRKN (K161N)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
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 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 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 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 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 468587	NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)	LOC126859871, PRKN (P153R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GBenign/Likely benign
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 409269	NM_004562.3(PRKN):c.443T>A (p.Val148Glu)	LOC126859871, PRKN (V148E)	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 744898	NM_004562.3(PRKN):c.413-9C>T	LOC126859871, 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 259433	NM_004562.3(PRKN):c.413-20T>C	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1257986	NM_004562.3(PRKN):c.413-82C>A	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279785	NM_004562.3(PRKN):c.413-266G>A	LOC126859871, PRKN	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 76