Related gene-specific medical variations for Gene (Select 123745) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2619784	NM_001395548.1(PLA2G4E):c.2077A>G (p.Ile693Val)	PLA2G4E, PLA2G4E-AS1 (I722V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541494	NM_001395548.1(PLA2G4E):c.964G>A (p.Val322Met)	PLA2G4E, PLA2G4E-AS1 (V351M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523624	NM_001395548.1(PLA2G4E):c.2030A>G (p.Asn677Ser)	PLA2G4E, PLA2G4E-AS1 (N677S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464417	NM_001395548.1(PLA2G4E):c.1853C>T (p.Thr618Ile)	PLA2G4E, PLA2G4E-AS1 (T647I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409657	NM_001395548.1(PLA2G4E):c.1858C>T (p.Arg620Trp)	PLA2G4E-AS1, PLA2G4E (R620W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394842	NM_001395548.1(PLA2G4E):c.2217G>A (p.Met739Ile)	PLA2G4E, PLA2G4E-AS1 (M739I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390790	NM_001395548.1(PLA2G4E):c.1381G>C (p.Glu461Gln)	PLA2G4E-AS1, PLA2G4E (E490Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363372	NM_001395548.1(PLA2G4E):c.1303C>T (p.Arg435Trp)	PLA2G4E-AS1, PLA2G4E (R464W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351056	NM_001395548.1(PLA2G4E):c.1522G>A (p.Glu508Lys)	PLA2G4E-AS1, PLA2G4E (E508K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309365	NM_001395548.1(PLA2G4E):c.1321G>A (p.Gly441Ser)	PLA2G4E-AS1, PLA2G4E (G441S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287368	NM_001395548.1(PLA2G4E):c.2476G>A (p.Ala826Thr)	PLA2G4E-AS1, PLA2G4E (A826T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282949	NM_001395548.1(PLA2G4E):c.1562A>T (p.Glu521Val)	PLA2G4E, PLA2G4E-AS1 (E550V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254529	NM_001395548.1(PLA2G4E):c.1390G>A (p.Glu464Lys)	PLA2G4E, PLA2G4E-AS1 (E464K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237435	NM_001395548.1(PLA2G4E):c.1180C>T (p.Arg394Cys)	PLA2G4E-AS1, PLA2G4E (R394C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233855	NM_001395548.1(PLA2G4E):c.2270A>G (p.Asn757Ser)	PLA2G4E-AS1, PLA2G4E (N757S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226174	NM_001395548.1(PLA2G4E):c.2282G>A (p.Arg761Gln)	PLA2G4E-AS1, PLA2G4E (R790Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212274	NM_001395548.1(PLA2G4E):c.2317G>A (p.Glu773Lys)	PLA2G4E-AS1, PLA2G4E (E773K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205805	NM_001395548.1(PLA2G4E):c.1529G>A (p.Gly510Asp)	PLA2G4E-AS1, PLA2G4E (G539D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785484	NM_001395548.1(PLA2G4E):c.1449C>T (p.Ile483=)	PLA2G4E, PLA2G4E-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777441	NM_001395548.1(PLA2G4E):c.2130C>T (p.Thr710=)	PLA2G4E, PLA2G4E-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 208869	NM_001395548.1(PLA2G4E):c.1630A>G (p.Met544Val)	PLA2G4E, PLA2G4E-AS1 (M573V +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign

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Items: 21