Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Watson syndrome: is it a subtype of type 1 neurofibromatosis? 1770531

1991
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Pulmonary stenosis, café-au-lait spots, and dull intelligence. 6025371

1967
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Do NF1 gene deletions result in a characteristic phenotype? 9375928

1997
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b. 10726756

2000
dbSNP: rs1064794276
rs1064794276
NF1
C 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
dbSNP: rs137854562
rs137854562
NF1
T 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
dbSNP: rs1555533842
rs1555533842
NF1
GC 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
dbSNP: rs1555534380
rs1555534380
NF1
A 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004
dbSNP: rs1555535052
rs1555535052
NF1
TTA 0.700 CausalMutation CLINVAR Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447

2004