C1836797[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137470	NM_024996.7(GFM1):c.-11C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 137462	NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)	GFM1 (N43D)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 214496	NM_024996.7(GFM1):c.273del (p.Met92fs)	GFM1 (M92fs +1 more)	Deletion (frameshift variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GPathogenic/Likely pathogenic
Select item 991776	NM_024996.7(GFM1):c.443T>C (p.Val148Ala)	GFM1 (V148A +1 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GUncertain significance
Select item 137464	NM_024996.7(GFM1):c.476A>G (p.Asn159Ser)	GFM1 (N159S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 214492	NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)	GFM1 (E208K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1367819	NM_024996.7(GFM1):c.690_693del	GFM1	Deletion (splice acceptor variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +2 more	GPathogenic/Likely pathogenic
Select item 991779	NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys)	GFM1 (R172C +6 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GUncertain significance
Select item 214500	NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)	GFM1 (R671C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 137467	NM_024996.7(GFM1):c.2071-17A>G	GFM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign