"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 186896	NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)	MIR4733HG, LOC111811965 +1 more (E19*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Focal T2 hyperintense basal ganglia lesion +8 more	GPathogenic
Select item 637000	NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)	NF1 (Q282*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2504125	NM_001042492.3(NF1):c.2121del (p.Met707fs)	NF1 (M707fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 449423	NM_001042492.3(NF1):c.2409+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 572474	NM_001042492.3(NF1):c.2410-16A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 185963	NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)	NF1	Deletion (frameshift variant)	NF1-related condition +7 more	GPathogenic
Select item 404612	NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)	NF1 (N1154I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 68341	NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	NF1 (R1276Q)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis +7 more	GPathogenic