"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GFPT1"[gen - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208585	NM_001244710.2(GFPT1):c.*22C>A	GFPT1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome 12 +3 more	GConflicting classifications of pathogenicity
Select item 871171	NM_001244710.2(GFPT1):c.1482G>C (p.Lys494Asn)	GFPT1 (K494N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444502	NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs)	GFPT1 (G247fs)	Microsatellite (frameshift variant +1 more)	Congenital myasthenic syndrome 12 +1 more	GPathogenic
Select item 540353	NM_001244710.2(GFPT1):c.686-2A>G	GFPT1	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 12 +5 more	GPathogenic
Select item 968944	NM_001244710.2(GFPT1):c.420C>G (p.Gly140=)	GFPT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1073321	NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)	GFPT1 (R111H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 29735	NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	GFPT1 (R111C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 336881	NM_001244710.2(GFPT1):c.223+5C>T	GFPT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 808761	NM_001244710.2(GFPT1):c.160G>T (p.Ala54Ser)	GFPT1 (A54S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619132	NM_001244710.2(GFPT1):c.45G>A (p.Thr15=)	GFPT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance