PACRG[gene] - ClinVar - NCBI

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	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 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 155561	GRCh38/hg38 6q26(chr6:162124839-162738363)x3	LOC126859871, PACRG +1 more	Copy number gain	See cases	GUncertain significance
Select item 996950	NC_000006.12:g.162158041_162743641dup	LOC126859871, PACRG +1 more	Duplication	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 662856	NC_000006.11:g.(?_162622143)_(163148721_?)dup	LOC126859871, PACRG +1 more	Duplication	not provided	GUncertain significance
Select item 147331	GRCh38/hg38 6q26(chr6:162233059-162820011)x3	PACRG, PRKN	Copy number gain	See cases	GUncertain significance
Select item 7049	NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del	PACRG, PRKN	Deletion	Lung adenocarcinoma	GPathogenic
Select item 658980	NC_000006.11:g.(?_162864332)_(163149055_?)dup	PACRG, PRKN	Duplication	not provided	GUncertain significance
Select item 152216	GRCh38/hg38 6q26(chr6:162579229-163529838)x3	CAHM, DKFZp451B082 +20 more	Copy number gain	See cases	GUncertain significance
Select item 545336	NC_000006.12:g.(?_162609404)_(162813090_?)del	PACRG, PRKN	Deletion	Schizophrenia	GLikely pathogenic
Select item 146103	GRCh38/hg38 6q26(chr6:162708432-163095419)x1	LOC110121075, LOC126859872 +3 more	Copy number loss	See cases	GBenign
Select item 149029	GRCh38/hg38 6q26(chr6:162725310-163276413)x3	LOC110121075, LOC113174973 +5 more	Copy number gain	See cases	GLikely benign
Select item 1220094	NM_004562.3(PRKN):c.7+111G>A	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832304	NM_004562.3(PRKN):c.7+19G>C	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899924	NM_004562.3(PRKN):c.7+12C>A	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1594103	NM_004562.3(PRKN):c.7+10T>G	PRKN, PACRG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300469	NM_004562.3(PRKN):c.7+5G>A	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 573661	NM_004562.3(PRKN):c.7+5G>T	PACRG, PRKN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 356021	NM_004562.3(PRKN):c.7+4C>T	PACRG, PRKN	Single nucleotide variant (intron variant)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 7053	NM_004562.3(PRKN):c.7+1G>T	PACRG, PRKN	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
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 805243	NM_004562.3(PRKN):c.2T>C (p.Met1Thr)	PACRG, PRKN (M1T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GPathogenic/Likely pathogenic
Select item 493448	NM_004562.3(PRKN):c.1A>G (p.Met1Val)	PACRG, PRKN (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 356022	NM_004562.3(PRKN):c.-30T>C	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	PRKN-related disorder +2 more	GBenign/Likely benign
Select item 356023	NM_004562.3(PRKN):c.-42T>C	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive juvenile Parkinson disease 2	GUncertain significance
Select item 356024	NM_004562.3(PRKN):c.-46C>T	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	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 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 356025	NM_004562.2(PRKN):c.-107G>A	PACRG, PRKN	Single nucleotide variant (intron variant)	Juvenile-onset Parkinson disease	GUncertain significance
Select item 1270795	NM_001080379.2(PACRG):c.-244T>C	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1167504	NM_001080379.2(PACRG):c.-213A>C	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2599857	NM_001080379.2(PACRG):c.17A>G (p.Glu6Gly)	PACRG (E6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534375	NM_001080379.2(PACRG):c.32A>G (p.Asn11Ser)	PACRG (N11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283443	NM_001080379.2(PACRG):c.41C>T (p.Pro14Leu)	PACRG (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 695966	NM_001080379.2(PACRG):c.72G>A (p.Leu24=)	PACRG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2228018	NM_001080379.2(PACRG):c.89C>T (p.Pro30Leu)	PACRG (P30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319322	NM_001080379.2(PACRG):c.141G>A (p.Met47Ile)	PACRG (M47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +243 more	Copy number loss	See cases	GPathogenic
Select item 3207881	NM_001080379.2(PACRG):c.157G>A (p.Val53Met)	PACRG (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154916	GRCh38/hg38 6q26(chr6:162916759-163185088)x1	LOC113174973, LOC126859872 +3 more	Copy number loss	See cases	GUncertain significance
Select item 152770	GRCh38/hg38 6q26(chr6:162916759-163095219)x3	LOC126859872, PACRG +1 more	Copy number gain	See cases	GUncertain significance
Select item 155475	GRCh38/hg38 6q26(chr6:163036436-163493764)x3	CAHM, DKFZp451B082 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2459275	NM_001080379.2(PACRG):c.382C>T (p.Arg128Trp)	PACRG (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327139	NM_001080379.2(PACRG):c.395A>G (p.His132Arg)	PACRG (H132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396605	NM_001080379.2(PACRG):c.397G>A (p.Asp133Asn)	PACRG (D133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476027	NM_001080379.2(PACRG):c.526G>A (p.Val176Ile)	PACRG (V176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557281	NM_001080379.2(PACRG):c.553G>A (p.Ala185Thr)	PACRG (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490702	NM_001080379.2(PACRG):c.566A>G (p.Tyr189Cys)	PACRG (Y189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155701	GRCh38/hg38 6q26(chr6:163203635-163422801)x3	CAHM, DKFZp451B082 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148109	GRCh38/hg38 6q26(chr6:163310709-163529838)x1	CAHM, DKFZp451B082 +13 more	Copy number loss	See cases	GBenign
Select item 792062	NM_001080379.2(PACRG):c.614-6C>A	PACRG, PACRG-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3207883	NM_001080379.2(PACRG):c.628G>A (p.Gly210Ser)	PACRG, PACRG-AS1 (G210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207884	NM_001080379.2(PACRG):c.701G>T (p.Arg234Leu)	PACRG, PACRG-AS1 (R273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294603	NM_001080379.2(PACRG):c.701G>A (p.Arg234His)	PACRG, PACRG-AS1 (R273H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507905	NM_001080379.2(PACRG):c.739G>A (p.Val247Met)	PACRG, PACRG-AS1 (V247M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207885	NM_001080379.2(PACRG):c.754G>A (p.Glu252Lys)	PACRG, PACRG-AS1 (E252K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792063	NM_001080379.2(PACRG):c.771C>T (p.Asn257=)	PACRG, PACRG-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3233879	NC_000006.11:g.(162622285_162683556)_(162864506_163148693)dup	PACRG, PRKN	Duplication	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062882	GRCh37/hg19 6q26(chr6:162899570-163540127)x1	PACRG, PRKN	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	LOC729681, LPA +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2425162	NC_000006.11:g.(?_162622143)_(163148700_?)dup	PRKN, PACRG	Duplication	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1705255	NC_000006.11:g.(162683798_162864341)_(162864506_163148693)dup	PACRG, PRKN	Duplication	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527322	GRCh37/hg19 6q26-27(chr6:163078006-164556919)	PACRG, PRKN +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1460158	NC_000006.11:g.(?_162683537)_(163148700_?)del	PRKN, PACRG	Deletion	not provided	GPathogenic
Select item 1411231	NC_000006.11:g.(?_162864322)_(163148700_?)dup	PACRG, PRKN	Duplication	not provided	GUncertain significance
Select item 1374896	NC_000006.11:g.(?_163148674)_(163148700_?)dup	PACRG, PRKN	Duplication	not provided	GUncertain significance
Select item 979588	GRCh37/hg19 6q26(chr6:163285982-163505631)x3	PACRG	Copy number gain	not provided	GUncertain significance
Select item 979582	GRCh37/hg19 6q26(chr6:162680773-163427383)x1	PRKN, PACRG	Copy number loss	not provided	GLikely benign
Select item 814903	GRCh37/hg19 6q26(chr6:162765163-163266877)x3	PACRG, PRKN	Copy number gain	not provided	GUncertain significance
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic

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