"GeneDx"[submitter] AND "PARK7"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 298111	NM_007262.4(PARK7):c.-137G>A	PARK7	Single nucleotide variant	Parkinson Disease, Recessive +1 more	GBenign/Likely benign
Select item 298115	NM_007262.5(PARK7):c.-70C>T	PARK7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 487088	NM_007262.5(PARK7):c.-24+75_-24+92dup	PARK7	Duplication (intron variant)	not provided	GBenign
Select item 1246972	NM_007262.5(PARK7):c.-24+75_-24+92del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1243450	NM_007262.5(PARK7):c.-24+120G>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233736	NM_007262.5(PARK7):c.-24+318C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241125	NM_007262.5(PARK7):c.-24+344G>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296707	NM_007262.5(PARK7):c.-23-70T>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289619	NM_007262.5(PARK7):c.-23-50_-23-49del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1182033	NM_007262.5(PARK7):c.-23-4dup	PARK7	Duplication (intron variant)	not provided	GBenign
Select item 1234017	NM_007262.5(PARK7):c.-23-4del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1229912	NM_007262.5(PARK7):c.-23-5_-23-4del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 298117	NM_007262.5(PARK7):c.-22C>T	PARK7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1267442	NM_007262.5(PARK7):c.91-109C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 703804	NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)	PARK7 (A56T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GBenign/Likely benign
Select item 1279261	NM_007262.5(PARK7):c.192+238A>C	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294482	NM_007262.5(PARK7):c.192+331C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212406	NM_007262.5(PARK7):c.193-279A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239412	NM_007262.5(PARK7):c.193-149A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276080	NM_007262.5(PARK7):c.193-86A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298121	NM_007262.5(PARK7):c.234C>T (p.Gly78=)	PARK7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 675657	NM_007262.5(PARK7):c.252+8dup	PARK7	Duplication (intron variant)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GLikely benign
Select item 1227164	NM_007262.5(PARK7):c.252+30T>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684093	NM_007262.5(PARK7):c.252+46dup	PARK7	Duplication (intron variant)	not provided	GLikely benign
Select item 1267386	NM_007262.5(PARK7):c.252+46del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1206686	NM_007262.5(PARK7):c.252+45_252+46del	PARK7	Deletion (intron variant)	not provided	GLikely benign
Select item 1267406	NM_007262.5(PARK7):c.252+45G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248894	NM_007262.5(PARK7):c.252+45_252+46insA	PARK7	Insertion (intron variant)	not provided	GBenign
Select item 1275885	NM_007262.5(PARK7):c.252+46G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186557	NM_007262.5(PARK7):c.252+47A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300812	NM_007262.5(PARK7):c.252+80dup	PARK7	Duplication (intron variant)	not provided	GLikely benign
Select item 1238776	NM_007262.5(PARK7):c.252+194del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1183743	NM_007262.5(PARK7):c.252+193_252+194del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1255080	NM_007262.5(PARK7):c.253-109A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227703	NM_007262.5(PARK7):c.253-98G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252441	NM_007262.5(PARK7):c.253-31C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 465831	NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)	PARK7 (R98Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1266103	NM_007262.5(PARK7):c.322+31G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268265	NM_007262.5(PARK7):c.323-216G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221968	NM_007262.5(PARK7):c.323-48A>G	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 298122	NM_007262.5(PARK7):c.323-14A>G	PARK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1287117	NM_007262.5(PARK7):c.409+267_409+276del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1261801	NM_007262.5(PARK7):c.409+275_409+276del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1253087	NM_007262.5(PARK7):c.409+274_409+276del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1261949	NM_007262.5(PARK7):c.410-256_410-255del	PARK7	Deletion (intron variant)	not provided	GBenign
Select item 1182338	NM_007262.5(PARK7):c.410-230C>T	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180294	NM_007262.5(PARK7):c.410-161G>A	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273301	NM_007262.5(PARK7):c.410-49T>C	PARK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 854701	NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)	PARK7 (A179T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7 +2 more	GUncertain significance
Select item 875476	NM_007262.5(PARK7):c.*124C>T	PARK7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic

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Items: 52