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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MET
(N1118Y +2 more)
Single nucleotide variant
(missense variant)
Carcinoma
GLikely pathogenic
MET
(D1246H +2 more)
Single nucleotide variant
(missense variant)
Carcinoma
GLikely pathogenic
FGFR3
(Y648F +3 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma
GLikely pathogenic
FGFR3
(G697C +4 more)
Single nucleotide variant
(missense variant +1 more)
Carcinoma
+1 more
GLikely pathogenic
MET
(Y1253D +2 more)
Single nucleotide variant
(missense variant)
Neoplasm
+1 more
GLikely pathogenic
MET
(M1268T +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MET
(Y1248H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MET
(V1110I +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
MET
(T1010I +2 more)
Single nucleotide variant
(missense variant)
MET-related condition
+7 more
GConflicting classifications of pathogenicity
FGFR3
(Y373C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related condition
+17 more
GPathogenic
OOncogenic
FGFR3
(S371C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related chondrodysplasia
+32 more
GPathogenic
FGFR3
(K650E +3 more)
Single nucleotide variant
(missense variant +1 more)
Thanatophoric dysplasia
+4 more
GPathogenic
FGFR3
(A391E +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GPathogenic
MET
(Y1248C +2 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma
+2 more
GConflicting classifications of pathogenicity
MET
(D1246N +2 more)
Single nucleotide variant
(missense variant)
Carcinoma
+1 more
GPathogenic/Likely pathogenic
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