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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
(K658N +9 more)
Single nucleotide variant
(missense variant +1 more)
Endometrium neoplasm
GLikely pathogenic
FGFR2
(D374G +6 more)
Single nucleotide variant
(missense variant +2 more)
Endometrium neoplasm
GLikely pathogenic
FGFR2
(K658E +9 more)
Single nucleotide variant
(missense variant +1 more)
Endometrium neoplasm
GLikely pathogenic
FGFR2
(I548L +9 more)
Single nucleotide variant
(missense variant +1 more)
Endometrium neoplasm
+4 more
GLikely pathogenic
ATR
(I774fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
FGFR2
(K310R +3 more)
Single nucleotide variant
(missense variant +2 more)
Endometrium neoplasm
GLikely pathogenic
FGFR2
(Y381H +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
FGFR2
(N638K +9 more)
Single nucleotide variant
(missense variant +1 more)
Nasopharyngeal neoplasm
+4 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32V +1 more)
Single nucleotide variant
(missense variant)
Medulloblastoma
+8 more
GLikely pathogenic
CTNNB1, LOC126806658
(D32N +1 more)
Single nucleotide variant
(missense variant)
Juvenile nasopharyngeal angiofibroma
GPathogenic
CTNNB1, LOC126806658
(S33Y +1 more)
Single nucleotide variant
(missense variant)
Pilomatrixoma
+13 more
GPathogenic/Likely pathogenic
FGFR2
(S372C +6 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GPathogenic
FGFR2
(Y375C +6 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+13 more
GPathogenic/Likely pathogenic
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related disorder
+13 more
GPathogenic
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