"GeneDx"[submitter] AND "PINK1"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 1249706	NC_000001.11:g.20633253T>C	PINK1	Single nucleotide variant	not provided	GBenign
Select item 2573958	NM_032409.3(PINK1):c.112G>A (p.Ala38Thr)	PINK1 (A38T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 262026	NM_032409.3(PINK1):c.189C>T (p.Leu63=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 294999	NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)	PINK1 (Q115L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 875807	NM_032409.3(PINK1):c.387+14G>A	PINK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1244741	NM_032409.3(PINK1):c.388-269G>A	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190809	NM_032409.3(PINK1):c.388-93C>T	PINK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288766	NM_032409.3(PINK1):c.388-65_388-64del	PINK1	Deletion (intron variant)	not provided	GBenign
Select item 1268407	NM_032409.3(PINK1):c.388-65C>G	PINK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262027	NM_032409.3(PINK1):c.388-7A>G	PINK1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2105027	NM_032409.3(PINK1):c.425C>T (p.Pro142Leu)	PINK1 (P142L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 1801048	NM_032409.3(PINK1):c.472A>G (p.Ile158Val)	PINK1 (I158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429877	NM_032409.3(PINK1):c.502G>C (p.Ala168Pro)	MIR6084, PINK1 +1 more (A168P)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GPathogenic/Likely pathogenic
Select item 1169544	NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)	PINK1 (K186N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 445908	NM_032409.3(PINK1):c.587C>T (p.Pro196Leu)	PINK1 (P196L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 647795	NM_032409.3(PINK1):c.626C>T (p.Pro209Leu)	PINK1 (P209L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205255	NM_032409.3(PINK1):c.675+50T>C	PINK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231851	NM_032409.3(PINK1):c.675+167A>T	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239474	NM_032409.3(PINK1):c.676-299G>A	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183369	NM_032409.3(PINK1):c.676-240T>C	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257166	NM_032409.3(PINK1):c.676-77G>A	PINK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 806077	NM_032409.3(PINK1):c.745T>G (p.Leu249Val)	PINK1 (L249V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2502602	NM_032409.3(PINK1):c.823A>G (p.Ile275Val)	PINK1, PINK1-AS (I275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308797	NM_032409.3(PINK1):c.857C>T (p.Pro286Leu)	PINK1, PINK1-AS (P286L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 3342457	NM_032409.3(PINK1):c.904C>T (p.Arg302Cys)	PINK1, PINK1-AS (R302C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307790	NM_032409.3(PINK1):c.905G>A (p.Arg302His)	PINK1, PINK1-AS (R302H)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 1313415	NM_032409.3(PINK1):c.915T>A (p.Pro305=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1303069	NM_032409.3(PINK1):c.949G>A (p.Val317Ile)	PINK1, PINK1-AS (V317I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 447942	NM_032409.3(PINK1):c.952A>T (p.Met318Leu)	PINK1, PINK1-AS (M318L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 1207775	NM_032409.3(PINK1):c.959+72G>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222998	NM_032409.3(PINK1):c.959+299C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239004	NM_032409.3(PINK1):c.960-178G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248372	NM_032409.3(PINK1):c.960-142G>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260383	NM_032409.3(PINK1):c.960-58_960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GBenign
Select item 1255183	NM_032409.3(PINK1):c.960-57_960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GBenign
Select item 1250232	NM_032409.3(PINK1):c.960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GBenign
Select item 1186162	NM_032409.3(PINK1):c.960-59_960-56dup	PINK1, PINK1-AS	Duplication (intron variant)	not provided	GLikely benign
Select item 1281814	NM_032409.3(PINK1):c.960-56del	PINK1, PINK1-AS	Deletion (intron variant)	not provided	GBenign
Select item 1264944	NM_032409.3(PINK1):c.960-55C>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252464	NM_032409.3(PINK1):c.960-54G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 295003	NM_032409.3(PINK1):c.960-11C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 262028	NM_032409.3(PINK1):c.960-5G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3367258	NM_032409.3(PINK1):c.977G>A (p.Arg326His)	PINK1, PINK1-AS (R326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432830	NM_032409.3(PINK1):c.1010G>A (p.Arg337His)	PINK1, PINK1-AS (R337H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 500148	NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr)	PINK1, PINK1-AS (A339T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GConflicting classifications of pathogenicity
Select item 295004	NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr)	PINK1, PINK1-AS (A340T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1139313	NM_032409.3(PINK1):c.1023G>A (p.Met341Ile)	PINK1, PINK1-AS (M341I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1310405	NM_032409.3(PINK1):c.1024A>C (p.Met342Leu)	PINK1-AS, PINK1 (M342L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 874927	NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)	PINK1, PINK1-AS (A359T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1288469	NM_032409.3(PINK1):c.1123+91_1123+104del	PINK1, PINK1-AS	Deletion (intron variant)	not provided	GBenign
Select item 1244853	NM_032409.3(PINK1):c.1123+124G>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279712	NM_032409.3(PINK1):c.1123+161del	PINK1, PINK1-AS	Deletion (intron variant)	not provided	GBenign
Select item 1196075	NM_032409.3(PINK1):c.1124-258A>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239781	NM_032409.3(PINK1):c.1124-196A>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221190	NM_032409.3(PINK1):c.1124-159del	PINK1, PINK1-AS	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 534248	NM_032409.3(PINK1):c.1173T>C (p.Asp391=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 703421	NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)	PINK1, PINK1-AS (G411S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1293873	NM_032409.3(PINK1):c.1251+43C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1211054	NM_032409.3(PINK1):c.1251+153C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1270492	NM_032409.3(PINK1):c.1252-25T>C	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3368942	NM_032409.3(PINK1):c.1252G>C (p.Val418Leu)	PINK1, PINK1-AS (V418L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2415	NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter)	PINK1, PINK1-AS (Q456*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GPathogenic
Select item 286390	NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)	PINK1, PINK1-AS (E476K)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GBenign
Select item 431963	NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter)	PINK1-AS, PINK1 (R492*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 1241352	NM_032409.3(PINK1):c.1488+296G>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1279120	NM_032409.3(PINK1):c.1489-168C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2042776	NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter)	PINK1, PINK1-AS (R501*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 703805	NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln)	PINK1, PINK1-AS (R501Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GBenign/Likely benign
Select item 295006	NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)	DDOST, PINK1 +1 more (N521T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign/Likely benign
Select item 1011956	NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn)	PINK1, PINK1-AS (D525N)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 295011	NM_032409.3(PINK1):c.*37A>T	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign
Select item 874056	NM_032409.3(PINK1):c.*40G>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 295013	NM_032409.3(PINK1):c.*181C>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign
Select item 295014	NM_032409.3(PINK1):c.*196T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295015	NM_032409.3(PINK1):c.*265G>T	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295016	NM_032409.3(PINK1):c.*349G>C	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 295018	NM_032409.3(PINK1):c.*415C>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295019	NM_032409.3(PINK1):c.*490A>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 295024	NM_032409.3(PINK1):c.*564T>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295030	NM_032409.3(PINK1):c.*672T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GBenign/Likely benign
Select item 295057	NM_005216.5(DDOST):c.*40A>G	DDOST, PINK1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 295114	NM_005216.5(DDOST):c.831C>T (p.Ala277=)	DDOST, PINK1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +4 more	GBenign/Likely benign
Select item 295156	NM_005216.5(DDOST):c.315C>T (p.Gly105=)	DDOST, PINK1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign

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Items: 84