ClinVar for MedGen (Select 934704) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2057871	NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)	GUF1 (L417Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341779	NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)	GUF1 (L167fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 40 +1 more	GConflicting classifications of pathogenicity
Select item 1285318	NM_021927.3(GUF1):c.1872+23T>G	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285317	NM_021927.3(GUF1):c.1715+8C>G	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285316	NM_021927.3(GUF1):c.586-27T>A	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285315	NM_021927.3(GUF1):c.586-28_586-27insA	GUF1	Insertion (intron variant)	Developmental and epileptic encephalopathy, 40	GBenign
Select item 1285314	NM_021927.3(GUF1):c.585+27C>T	GUF1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1285313	NM_021927.3(GUF1):c.173T>C (p.Leu58Pro)	GUF1 (L58P)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 40 +1 more	GBenign
Select item 1030775	NM_021927.3(GUF1):c.1954G>A (p.Val652Ile)	GUF1 (V328I +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1030774	NM_021927.3(GUF1):c.1934A>G (p.Lys645Arg)	GUF1 (K645R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 40 +1 more	GUncertain significance
Select item 809633	NM_021927.3(GUF1):c.809T>C (p.Ile270Thr)	GUF1 (I270T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 728658	NM_021927.3(GUF1):c.514C>G (p.Gln172Glu)	GUF1 (Q172E)	Single nucleotide variant (5 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 40 +1 more	GConflicting classifications of pathogenicity
Select item 253096	NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)	GUF1 (A609S +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 40	GPathogenic