C1868675[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907164	NM_004562.3(PRKN):c.*140A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 907165	NM_004562.3(PRKN):c.*121A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 356016	NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)	PRKN (G430D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GPathogenic/Likely pathogenic
Select item 41222	NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)	PRKN (D394N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GBenign/Likely benign
Select item 41221	NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)	PRKN (V380L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GBenign
Select item 468583	NM_004562.3(PRKN):c.1001G>A (p.Arg334His)	PRKN (R334H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 577057	NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)	PRKN (E310D +2 more)	Single nucleotide variant (missense variant)	Ovarian neoplasm +3 more	GUncertain significance
Select item 696161	NM_004562.3(PRKN):c.837C>T (p.His279=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
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 649511	NM_004562.3(PRKN):c.799T>C (p.Tyr267His)	PRKN (Y239H +2 more)	Single nucleotide variant (missense variant)	Lung cancer +3 more	GUncertain significance
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 1402237	NM_004562.3(PRKN):c.551A>T (p.Asp184Val)	PRKN (D184V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 41223	NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)	LOC126859871, PRKN (S167N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 468587	NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)	PRKN, LOC126859871 (P153R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
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 946993	NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)	PRKN (G118A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 697532	NM_004562.3(PRKN):c.276G>A (p.Ala92=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 903886	NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)	PRKN (T83A)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 1130407	NM_004562.3(PRKN):c.219G>A (p.Pro73=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Ovarian neoplasm +3 more	GLikely benign
Select item 1259680	NM_004562.3(PRKN):c.172-38dup	PRKN	Duplication (intron variant)	Ovarian neoplasm +3 more	GBenign
Select item 536457	NM_004562.3(PRKN):c.155del (p.Asn52fs)	PRKN (N52fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GPathogenic
Select item 468586	NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)	PRKN (A46T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 425403	NM_004562.3(PRKN):c.101_102del (p.Gln34fs)	PRKN (Q34fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 578186	NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)	PRKN (R33Q)	Single nucleotide variant (missense variant)	Ovarian neoplasm +3 more	GPathogenic/Likely pathogenic
Select item 1335654	NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	PRKN (Q25*)	Single nucleotide variant (nonsense)	Lung cancer +3 more	GPathogenic/Likely pathogenic

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Items: 26