U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(M992del)
Deletion
(inframe_deletion)
not provided
+6 more
GPathogenic/Likely pathogenic
NF1
(R1809G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NF1
(R1809S +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(R1809C +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+10 more
GPathogenic
NF1
(R1809P +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(R1809L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination