ClinVar for Gene (Select 5071) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233879	NC_000006.11:g.(162622285_162683556)_(162864506_163148693)dup	PACRG, PRKN	Duplication	not specified	GUncertain significance
Select item 3218877	NM_004562.3(PRKN):c.923G>A (p.Gly308Glu)	PRKN (G159E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218876	NM_004562.3(PRKN):c.793C>T (p.His265Tyr)	PRKN (H116Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218875	NM_004562.3(PRKN):c.616G>A (p.Ala206Thr)	PRKN (A206T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3218872	NM_004562.3(PRKN):c.353G>A (p.Gly118Glu)	PRKN (G118E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218871	NM_004562.3(PRKN):c.274G>A (p.Ala92Thr)	PRKN (A92T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218870	NM_004562.3(PRKN):c.271G>A (p.Ala91Thr)	PRKN (A91T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3218869	NM_004562.3(PRKN):c.1384T>C (p.Trp462Arg)	PRKN (W313R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218868	NM_004562.3(PRKN):c.1352G>C (p.Cys451Ser)	PRKN (C423S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218867	NM_004562.3(PRKN):c.1300A>G (p.Met434Val)	PRKN (M434V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218866	NM_004562.3(PRKN):c.1172A>G (p.Tyr391Cys)	PRKN (Y391C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3027402	GRCh37/hg19 6q26(chr6:162622163-162683797)x1	PRKN	Copy number loss	not provided	GLikely pathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	AFDN, C6orf118 +33 more	Copy number loss	not provided	GPathogenic
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 2963047	NM_004562.3(PRKN):c.1251C>T (p.Pro417=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959114	NM_004562.3(PRKN):c.933+19G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917204	NM_004562.3(PRKN):c.1170C>A (p.Ala390=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913067	NM_004562.3(PRKN):c.1329C>T (p.Leu443=)	PRKN	Single nucleotide variant (synonymous variant)	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 2893684	NM_004562.3(PRKN):c.1269A>G (p.Val423=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886231	NM_004562.3(PRKN):c.942G>T (p.Arg314=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883434	NM_004562.3(PRKN):c.818A>G (p.Asn273Ser)	PRKN (N124S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882847	NM_004562.3(PRKN):c.279A>T (p.Gly93=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852596	NM_004562.3(PRKN):c.591A>G (p.Gln197=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851816	NM_004562.3(PRKN):c.1191C>T (p.Ala397=)	PRKN	Single nucleotide variant (synonymous 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 2817663	NM_004562.3(PRKN):c.844C>T (p.Gln282Ter)	PRKN (Q133* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2756740	NM_004562.3(PRKN):c.1046_1047del (p.Lys349fs)	PRKN (K200fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2741847	NM_004562.3(PRKN):c.933+20G>A	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 2715674	NM_004562.3(PRKN):c.1057G>A (p.Glu353Lys)	PRKN (E325K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2657122	NM_004562.3(PRKN):c.279A>G (p.Gly93=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657121	NM_004562.3(PRKN):c.1317C>A (p.Pro439=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
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 2579012	NM_004562.3(PRKN):c.7+32919T>C	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571272	GRCh37/hg19 6q26(chr6:162622163-162864505)x1	PRKN	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 2538168	NM_004562.3(PRKN):c.344A>G (p.Asp115Gly)	PRKN (D115G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499665	GRCh38/hg38 6q26(chr6:161896065-162548892)	PRKN, LOC126859869 +2 more	Copy number loss	See cases	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 2429568	NM_004562.3(PRKN):c.1052C>T (p.Thr351Ile)	PRKN (T202I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2425162	NC_000006.11:g.(?_162622143)_(163148700_?)dup	PRKN, PACRG	Duplication	not provided	GUncertain significance
Select item 2425161	NC_000006.11:g.(?_162864322)_(162868359_?)del	PRKN	Deletion	not provided	GPathogenic
Select item 2425160	NC_000006.11:g.(?_162622178)_(162623926_?)del	PRKN	Deletion	not provided	GLikely pathogenic
Select item 2425159	NC_000006.11:g.(?_161969866)_(161990468_?)dup	PRKN	Duplication	not provided	GLikely pathogenic
Select item 2425158	NC_000006.11:g.(?_161771131)_(162864525_?)dup	PRKN	Duplication	not provided	GUncertain significance
Select item 2425157	NC_000006.11:g.(?_162394314)_(162864525_?)del	PRKN	Deletion	not provided	GPathogenic
Select item 2417723	NM_004562.3(PRKN):c.290G>A (p.Arg97Gln)	PRKN (R97Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2198231	NM_004562.3(PRKN):c.1129T>C (p.Cys377Arg)	PRKN (C228R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191539	NM_004562.3(PRKN):c.1359G>A (p.Trp453Ter)	PRKN (W453* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2190490	NM_004562.3(PRKN):c.1216G>A (p.Ala406Thr)	PRKN (A378T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178550	NM_004562.3(PRKN):c.993A>G (p.Leu331=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177191	NM_004562.3(PRKN):c.85G>A (p.Val29Met)	PRKN (V29M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174566	NM_004562.3(PRKN):c.601_602insA (p.Cys201Ter)	PRKN (C201*)	Insertion (nonsense +1 more)	not provided	GPathogenic
Select item 2172558	NM_004562.3(PRKN):c.572G>A (p.Arg191Gln)	PRKN (R191Q)	Single nucleotide variant (missense variant +1 more)	not provided	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 2162364	NM_004562.3(PRKN):c.135C>T (p.Phe45=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159089	NM_004562.3(PRKN):c.1083+11C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2156059	NM_004562.3(PRKN):c.80A>C (p.Lys27Thr)	PRKN (K27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145130	NM_004562.3(PRKN):c.1194C>T (p.Ala398=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139773	NM_004562.3(PRKN):c.985G>T (p.Gly329Cys)	PRKN (G180C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2136491	NM_004562.3(PRKN):c.1286-3C>G	PRKN	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2133446	NM_004562.3(PRKN):c.734+9C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118719	NM_004562.3(PRKN):c.141G>T (p.Gly47=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2082616	NM_004562.3(PRKN):c.1028C>T (p.Pro343Leu)	PRKN (P315L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078840	NM_004562.3(PRKN):c.562A>G (p.Ile188Val)	PRKN (I188V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2077689	NM_004562.3(PRKN):c.571C>T (p.Arg191Trp)	PRKN (R191W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2069170	NM_004562.3(PRKN):c.907C>T (p.His303Tyr)	PRKN (H303Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068913	NM_004562.3(PRKN):c.172-18del	PRKN	Deletion (intron variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GBenign
Select item 2044414	NM_004562.3(PRKN):c.942G>A (p.Arg314=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017486	NM_004562.3(PRKN):c.8-14A>C	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017454	NM_004562.3(PRKN):c.823C>A (p.Arg275=)	PRKN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976035	NM_004562.3(PRKN):c.887C>T (p.Ser296Phe)	PRKN (S147F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972679	NM_004562.3(PRKN):c.1338C>G (p.Cys446Trp)	PRKN (C446W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972564	NM_004562.3(PRKN):c.1352del (p.Cys451fs)	PRKN (C302fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1939308	NM_004562.3(PRKN):c.1166A>G (p.Gln389Arg)	PRKN (Q361R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924653	NM_004562.3(PRKN):c.1286G>A (p.Gly429Glu)	PRKN (G401E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906714	NM_004562.3(PRKN):c.734+13_734+15del	PRKN	Deletion (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 1898914	NM_004562.3(PRKN):c.1138G>A (p.Val380Ile)	PRKN (V352I +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1806872	NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)	PRKN (P288A +2 more)	Single nucleotide variant (missense 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 1711650	NM_004562.3(PRKN):c.734+8945T>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708651	NM_004562.3(PRKN):c.736A>C (p.Ser246Arg)	PRKN (S218R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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