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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+17 more
GPathogenic
OOncogenic
FGFR3
(G370C +1 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
+3 more
GPathogenic
OOncogenic
FGFR3
(S371C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
FGFR3
(Y373C +1 more)
Single nucleotide variant
(missense variant +2 more)
Thanatophoric dysplasia type 1
+1 more
GPathogenic
FGFR3
(K650Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
+1 more
GPathogenic
FGFR3
(G697C +4 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma
+1 more
GLikely pathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+6 more
GPathogenic
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