C3554004[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500767	NM_004565.3(PEX14):c.18G>C (p.Gln6His)	PEX14 (Q6H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 291671	NM_004565.3(PEX14):c.78G>A (p.Glu26=)	PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K +2 more	GBenign/Likely benign
Select item 291672	NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)	PEX14 (S70A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GBenign/Likely benign
Select item 595683	NM_004565.3(PEX14):c.416G>A (p.Arg139Gln)	PEX14 (R139Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198515	NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)	LOC126805616, PEX14 (A192G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 259438	NM_004565.3(PEX14):c.873C>T (p.His291=)	PEX14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 167452	NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)	PEX14 (D338G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 13A (Zellweger) +1 more	GUncertain significance
Select item 1488796	NM_004565.3(PEX14):c.1081G>A (p.Val361Met)	PEX14 (V361M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance