C1836797[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343918	NM_024996.7(GFM1):c.-33C>T	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
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 1185260	NM_024996.7(GFM1):c.81+22A>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1185261	NM_024996.7(GFM1):c.81+84C>G	GFM1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1199313	NM_024996.7(GFM1):c.344A>G (p.Asn115Ser)	GFM1 (N115S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 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 1185262	NM_024996.7(GFM1):c.689+891C>T	GFM1 (R245C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1185263	NM_024996.7(GFM1):c.690-87A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210416	NM_024996.7(GFM1):c.748del (p.Arg250fs)	GFM1 (R175fs +6 more)	Deletion (frameshift variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	GLikely pathogenic
Select item 343929	NM_024996.7(GFM1):c.1032C>T (p.Asn344=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1185264	NM_024996.7(GFM1):c.1083+57C>T	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185265	NM_024996.7(GFM1):c.1083+82T>C	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185266	NM_024996.7(GFM1):c.1323+72A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 671554	NM_024996.7(GFM1):c.1323+83A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1142296	NM_024996.7(GFM1):c.1383C>T (p.Asn461=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343933	NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr)	GFM1 (D462Y +7 more)	Single nucleotide variant (missense variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GUncertain significance
Select item 1185267	NM_024996.7(GFM1):c.1519-25A>G	GFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 343936	NM_024996.7(GFM1):c.1831C>T (p.Leu611=)	GFM1	Single nucleotide variant (synonymous variant +1 more)	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +1 more	GConflicting classifications of pathogenicity
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