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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(E692K +7 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GLikely pathogenic
FGFR1
Single nucleotide variant
(splice donor variant)
Pfeiffer syndrome
+2 more
GPathogenic/Likely pathogenic
FGFR1
(G643D +7 more)
Single nucleotide variant
(missense variant)
Microform holoprosencephaly
GLikely pathogenic
FGFR1
(G397R +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(G485V +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(R250P +5 more)
Single nucleotide variant
(missense variant)
Lobar holoprosencephaly
GLikely pathogenic
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