"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PARK7"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 573287	NM_007262.5(PARK7):c.105dup (p.Ala36fs)	PARK7 (A36fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 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 1519810	NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)	PARK7 (T110A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance
Select item 1119998	NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)	PARK7 (T154A)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease	GLikely pathogenic
Select item 987356	NM_007262.5(PARK7):c.471_473del (p.Pro158del)	PARK7 (P158del)	Deletion (inframe_deletion)	Autosomal recessive early-onset Parkinson disease 7 +1 more	GConflicting classifications of pathogenicity
Select item 298123	NM_007262.5(PARK7):c.500C>G (p.Ala167Gly)	PARK7 (A167G)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 7	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 298124	NM_007262.5(PARK7):c.*125G>A	PARK7	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive early-onset Parkinson disease 7	GUncertain significance