"GeneDx"[submitter] AND "PRKN"[gene] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 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 907163	NM_004562.3(PRKN):c.*320C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GBenign
Select item 1220036	NM_004562.3(PRKN):c.*96GC[7]	PRKN	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 903814	NM_004562.3(PRKN):c.*94A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GBenign/Likely benign
Select item 356013	NM_004562.3(PRKN):c.*15C>A	PRKN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 283504	NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)	PRKN (P437L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1272489	NM_004562.3(PRKN):c.1286-118A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257040	NM_004562.3(PRKN):c.1286-169A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205204	NM_004562.3(PRKN):c.1286-237C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265391	NM_004562.3(PRKN):c.1168-165C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252137	NM_004562.3(PRKN):c.1167+174G>T	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283796	NM_004562.3(PRKN):c.1167+162C>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239951	NM_004562.3(PRKN):c.1084-202A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277040	NM_004562.3(PRKN):c.1083+173A>C	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248229	NM_004562.3(PRKN):c.1083+125A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213520	NM_004562.3(PRKN):c.1083+124C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 817422	NM_004562.3(PRKN):c.992del (p.Leu331fs)	PRKN (L331fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 415532	NM_004562.3(PRKN):c.957T>C (p.Gly319=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GBenign/Likely benign
Select item 1278592	NM_004562.3(PRKN):c.934-137CA[9]	PRKN	Microsatellite (intron variant)	not provided	GBenign
Select item 1262837	NM_004562.3(PRKN):c.934-137CA[8]	PRKN	Microsatellite (intron variant)	not provided	GBenign
Select item 1219304	NM_004562.3(PRKN):c.934-142C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192805	NM_004562.3(PRKN):c.934-158G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195274	NM_004562.3(PRKN):c.934-195C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261014	NM_004562.3(PRKN):c.934-196A>T	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201499	NM_004562.3(PRKN):c.934-206G>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207634	NM_004562.3(PRKN):c.933+237G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197962	NM_004562.3(PRKN):c.933+101T>C	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196797	NM_004562.3(PRKN):c.933+93C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180217	NM_004562.3(PRKN):c.933+83G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205352	NM_004562.3(PRKN):c.933+67G>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234850	NM_004562.3(PRKN):c.933+48C>T	PRKN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1207964	NM_004562.3(PRKN):c.933+43A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274474	NM_004562.3(PRKN):c.872-35G>A	PRKN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1188287	NM_004562.3(PRKN):c.872-58A>G	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211469	NM_004562.3(PRKN):c.872-60G>C	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269722	NM_004562.3(PRKN):c.872-68C>G	PRKN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1208198	NM_004562.3(PRKN):c.872-96G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182242	NM_004562.3(PRKN):c.872-181G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226784	NM_004562.3(PRKN):c.872-230G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229601	NM_004562.3(PRKN):c.871+69700_871+69704del	PRKN	Deletion (intron variant)	not provided	GBenign
Select item 1706839	NM_004562.3(PRKN):c.871+69692G>T	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244140	NM_004562.3(PRKN):c.871+69657G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 415530	NM_004562.3(PRKN):c.816C>T (p.Leu272=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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
Select item 1276042	NM_004562.3(PRKN):c.735-58C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195846	NM_004562.3(PRKN):c.735-96_735-95insG	PRKN	Insertion (intron variant)	not provided	GLikely benign
Select item 1189699	NM_004562.3(PRKN):c.735-99_735-97del	PRKN	Deletion (intron variant)	not provided	GLikely benign
Select item 1179637	NM_004562.3(PRKN):c.735-333A>C	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59549	GRCh38/hg38 6q26(chr6:161841164-162004649)x3	PRKN	Copy number gain	See cases	GUncertain significance
Select item 1204502	NM_004562.3(PRKN):c.734+131C>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7054	NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	PRKN (T240M +2 more)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +3 more	GConflicting classifications of pathogenicity
Select item 696485	NM_004562.3(PRKN):c.714C>T (p.Cys238=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1197900	NM_004562.3(PRKN):c.619-100T>C	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228283	NM_004562.3(PRKN):c.618+230T>C	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239163	NM_004562.3(PRKN):c.535-77C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237063	NM_004562.3(PRKN):c.535-228T>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144901	GRCh38/hg38 6q26(chr6:162120320-162356161)x1	LOC126859871, PRKN	Copy number loss	See cases	GBenign
Select item 151612	GRCh38/hg38 6q26(chr6:162155203-162356161)x1	LOC126859871, PRKN	Copy number loss	See cases	GBenign
Select item 144917	GRCh38/hg38 6q26(chr6:162184862-162273766)x1	LOC126859871, PRKN	Copy number loss	See cases	GBenign
Select item 58833	GRCh38/hg38 6q26(chr6:162195999-162693004)x1	LOC126859871, PRKN	Copy number loss	See cases	GUncertain significance
Select item 696404	NM_004562.3(PRKN):c.531C>A (p.Thr177=)	LOC126859871, PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided +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 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
Select item 145804	GRCh38/hg38 6q26(chr6:162233059-162327256)x1	PRKN	Copy number loss	See cases	GBenign
Select item 1267637	NM_004562.3(PRKN):c.412+317G>C	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308148	NM_004562.3(PRKN):c.409C>G (p.Pro137Ala)	PRKN (P137A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 846957	NM_004562.3(PRKN):c.337_376del (p.Pro113fs)	PRKN (P113fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 817926	NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)	PRKN (W74fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1313728	NM_004562.3(PRKN):c.208G>A (p.Val70Met)	PRKN (V70M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1189199	NM_004562.3(PRKN):c.172-17dup	PRKN	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1259680	NM_004562.3(PRKN):c.172-38dup	PRKN	Duplication (intron variant)	Ovarian neoplasm +3 more	GBenign
Select item 1288107	NM_004562.3(PRKN):c.172-18T>A	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1273969	NM_004562.3(PRKN):c.172-79G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227343	NM_004562.3(PRKN):c.172-211T>G	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280243	NM_004562.3(PRKN):c.171+248C>T	PRKN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217573	NM_004562.3(PRKN):c.171+220GA[4]	PRKN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1178784	NM_004562.3(PRKN):c.171+62G>A	PRKN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281040	NM_004562.3(PRKN):c.171+25T>C	PRKN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 356020	NM_004562.3(PRKN):c.111G>A (p.Pro37=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 425403	NM_004562.3(PRKN):c.101_102del (p.Gln34fs)	PRKN (Q34fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 144900	GRCh38/hg38 6q26(chr6:162449337-162512065)x1	PRKN	Copy number loss	See cases	GBenign
Select item 152412	GRCh38/hg38 6q26(chr6:162539079-162629312)x1	PRKN	Copy number loss	See cases	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 1300469	NM_004562.3(PRKN):c.7+5G>A	PACRG, PRKN	Single nucleotide variant (intron variant)	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)	Autosomal recessive juvenile Parkinson disease 2 +1 more	GLikely benign
Select item 1270795	NC_000006.12:g.162727992T>C	PACRG, PRKN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253818	GRCh37/hg19 6q26(chr6:161625929-161812380)x4	AGPAT4, PRKN	Copy number gain	See cases	GUncertain significance
Select item 3359543	NM_004562.3(PRKN):c.521_522delinsCT (p.Leu174Pro)	PRKN (L174P)	Indel (missense variant +1 more)	not provided	GUncertain significance

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Items: 92