"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GFM1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343919	NM_024996.7(GFM1):c.18T>C (p.Ala6=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GBenign
Select item 2682849	NM_024996.7(GFM1):c.53C>T (p.Pro18Leu)	GFM1 (P18L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1409305	NM_024996.7(GFM1):c.67T>A (p.Trp23Arg)	GFM1 (W23R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 559213	NM_024996.7(GFM1):c.193C>A (p.Arg65=)	GFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3379510	NM_024996.7(GFM1):c.221C>T (p.Ala74Val)	GFM1 (A74V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1068183	NM_024996.7(GFM1):c.573-1G>C	GFM1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343925	NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	GFM1 (V215I +2 more)	Single nucleotide variant (missense variant +2 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GBenign
Select item 427199	NM_024996.7(GFM1):c.776A>G (p.Asn259Ser)	GFM1 (N259S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 137461	NM_024996.7(GFM1):c.1083+6T>G	GFM1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 137463	NM_024996.7(GFM1):c.1601+9G>C	GFM1	Single nucleotide variant (intron variant)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +2 more	GBenign
Select item 137466	NM_024996.7(GFM1):c.1990G>A (p.Val664Ile)	GFM1 (V664I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 343938	NM_024996.7(GFM1):c.*6C>T	GFM1	Single nucleotide variant (3 prime UTR variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GBenign