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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(C636Y +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(K656E +7 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+7 more
GConflicting classifications of pathogenicity
FGFR1
(N539K +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
Gnot provided
FGFR1
(R538T +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GConflicting classifications of pathogenicity
FGFR1
(D530Y +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(N546K +7 more)
Single nucleotide variant
(missense variant)
Rosette-forming glioneuronal tumor
+1 more
GPathogenic
FGFR1
(G397R +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(L191S +5 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
Gnot provided
FGFR1
(L165S +5 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
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