Project HERA

FGFR1 variants

Every FGFR1 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

7 variants

FGFR1 variants

Newest first. Each row opens the full report, criterion by criterion.

7 shown

Variant

Protein change

Classification

FGFR1 NM_001174067.1:c.1746C>A

NP_001167538.1:p.(C582*)

Likely Pathogenic

FGFR1 NM_023110.3:c.2267G>A

NP_075598.2:p.(R756H)

FGFR1 NM_001174067.1:c.1731C>A

NP_001167538.1:p.(N577K)

FGFR1 NM_023110.3:c.1368G>T

NP_075598.2:p.(M456I)

FGFR1 NM_001174067.1:c.521C>G

NP_001167538.1:p.(T174R)

FGFR1 NM_001174067.1:c.2242C>T

NP_001167538.1:p.(H748Y)

FGFR1 NM_001174067.1:c.475G>A

NP_001167538.1:p.(E159K)