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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
(D293G +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+5 more
GConflicting classifications of pathogenicity
FGFR2
(H594R +9 more)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
(V702I)
Single nucleotide variant
(3 prime UTR variant +2 more)
Saethre-Chotzen syndrome
+5 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Saethre-Chotzen syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+5 more
GBenign/Likely benign
FGFR2
(T31S)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(intron variant)
FGFR2-related craniosynostosis
+6 more
GBenign/Likely benign
FGFR2
(L143F +3 more)
Single nucleotide variant
(missense variant +2 more)
Pfeiffer syndrome
+13 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Pfeiffer syndrome
+12 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related disorder
+6 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(intron variant)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
(K290E +6 more)
Single nucleotide variant
(missense variant +2 more)
Isolated coronal synostosis
+4 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+6 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR2
(R330Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+14 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+7 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+5 more
GBenign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GBenign
FGFR2
Duplication
(5 prime UTR variant +1 more)
Crouzon syndrome
+8 more
GLikely benign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GBenign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GBenign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+5 more
GBenign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+5 more
GBenign/Likely benign
FGFR2
Microsatellite
(intron variant)
Acrocephalosyndactyly type I
+9 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(intron variant)
Crouzon syndrome
+7 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+5 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(intron variant)
Crouzon syndrome
+6 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+6 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+6 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(intron variant)
Saethre-Chotzen syndrome
+4 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(intron variant)
Crouzon syndrome
+6 more
GBenign/Likely benign
FGFR2
(R592C +9 more)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+7 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+6 more
GBenign/Likely benign
FGFR2
(E806K +8 more)
Single nucleotide variant
(missense variant +2 more)
Crouzon syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(3 prime UTR variant +2 more)
Crouzon syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(3 prime UTR variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GBenign/Likely benign
FGFR2
(K682fs)
Deletion
(3 prime UTR variant +2 more)
Crouzon syndrome
+10 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+6 more
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+5 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+5 more
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Deletion
(3 prime UTR variant +1 more)
Crouzon syndrome
+8 more
GLikely benign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR2
Duplication
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+8 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+12 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Deletion
(3 prime UTR variant +1 more)
Acrocephalosyndactyly type I
+8 more
GLikely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+7 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+7 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+6 more
GBenign
FGFR2
Single nucleotide variant
(intron variant)
Crouzon syndrome
+6 more
GBenign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+7 more
GBenign
FGFR2
Single nucleotide variant
(intron variant)
Beare-Stevenson cutis gyrata syndrome
+7 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+7 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Crouzon syndrome
+7 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(intron variant)
Craniosynostosis syndrome
+5 more
GBenign/Likely benign
FGFR2
(M186T +2 more)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+7 more
GBenign
FGFR2
(S57L)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+7 more
GBenign/Likely benign
FGFR2
(I8S)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
FGFR2
(R6P)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+15 more
GBenign
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