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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6025	NM_005476.7(GNE):c.2135T>C (p.Met712Thr)	GNE (M712T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 6028	NM_005476.7(GNE):c.2086G>A (p.Val696Met)	GNE (V696M +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 566086	NM_005476.7(GNE):c.2044G>A (p.Val682Ile)	GNE (V682I +5 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 6035	NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	GNE (A631V +5 more)	Single nucleotide variant (missense variant)	Sialuria +4 more	GPathogenic
Select item 188882	NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	GNE (I587T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 424619	NM_005476.7(GNE):c.1571C>T (p.Ala524Val)	GNE (A524V +4 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 1056569	NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)	GNE (K330T +4 more)	Single nucleotide variant (missense variant)	Sialuria +2 more	GUncertain significance
Select item 188916	NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)	GNE (Q436* +4 more)	Single nucleotide variant (nonsense)	GNE myopathy +1 more	GPathogenic/Likely pathogenic
Select item 282659	NM_005476.7(GNE):c.1259G>A (p.Arg420Gln)	GNE (R451Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 370285	NM_005476.7(GNE):c.916C>T (p.Arg306Ter)	GNE (R337* +4 more)	Single nucleotide variant (nonsense)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 498387	NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	GNE (I298T +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +2 more	GPathogenic/Likely pathogenic
Select item 6030	NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	GNE (R246Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 218297	NM_005476.7(GNE):c.647T>C (p.Val216Ala)	GNE (V216A +2 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +2 more	GPathogenic/Likely pathogenic
Select item 287949	NM_005476.7(GNE):c.624T>G (p.Asp208Glu)	GNE (D239E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 558623	NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	GNE (I231F +2 more)	Single nucleotide variant (missense variant)	Sialuria +3 more	GConflicting classifications of pathogenicity
Select item 41233	NM_005476.7(GNE):c.527A>T (p.Asp176Val)	GNE (D207V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1473998	NM_005476.7(GNE):c.485G>A (p.Arg162His)	GNE (R103H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 583405	NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)	GNE (Y6*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 257520	NM_001128227.3(GNE):c.-10G>A	GNE	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign