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Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR2
Single nucleotide variant
(intron variant)
FGFR2-related craniosynostosis
+11 more
GLikely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Bent bone dysplasia syndrome 1
+11 more
GLikely benign
FGFR2
Single nucleotide variant
(intron variant)
FGFR2-related craniosynostosis
+11 more
GLikely benign
FGFR2
(R61H)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+11 more
GConflicting classifications of pathogenicity
FGFR2
(A134V +6 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR2
(P328L +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR2
(A302T +6 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
(L581P +8 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+11 more
GConflicting classifications of pathogenicity
FGFR2
(N546S +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
(P298L +6 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
(H204Y +3 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+12 more
GLikely benign
FGFR2
Indel
(intron variant)
not provided
+11 more
GUncertain significance
FGFR2
(M465V +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+11 more
GUncertain significance
FGFR2
(G146R +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+11 more
GUncertain significance
FGFR2
(G96D)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+12 more
GUncertain significance
FGFR2
(M121T)
Single nucleotide variant
(missense variant +1 more)
not provided
+11 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
+12 more
GLikely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Bent bone dysplasia syndrome 1
+11 more
GLikely benign
FGFR2
(I587fs +8 more)
Deletion
(frameshift variant +2 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
(R222C +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+12 more
GUncertain significance
FGFR2
(P148L +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR2
(R6C)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+12 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(intron variant)
Familial scaphocephaly syndrome, McGillivray type
+11 more
GUncertain significance
FGFR2
(D293G +9 more)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+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)
Craniosynostosis syndrome
+5 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)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Crouzon syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+5 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)
Craniosynostosis syndrome
+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)
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
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
Single nucleotide variant
(intron variant)
Saethre-Chotzen syndrome
+6 more
GBenign/Likely benign
FGFR2
(L143F +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial scaphocephaly syndrome, McGillivray type
+13 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 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
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial scaphocephaly syndrome, McGillivray type
+12 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
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(intron variant)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
(K290E +6 more)
Single nucleotide variant
(missense variant +2 more)
Craniosynostosis syndrome
+4 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(3 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
+4 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Crouzon syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Pfeiffer syndrome
+11 more
GLikely benign
FGFR2
(R22W)
Single nucleotide variant
(missense variant +1 more)
Gastric cancer
+11 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
+11 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Pfeiffer syndrome
+12 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
+11 more
GLikely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
+13 more
GLikely benign
FGFR2
(R579W +9 more)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome
+10 more
GUncertain significance
FGFR2
(R330Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Crouzon syndrome
+14 more
GConflicting classifications of pathogenicity
FGFR2
(D304N +3 more)
Single nucleotide variant
(missense variant +2 more)
Acrocephalosyndactyly type I
+11 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+13 more
GLikely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Craniosynostosis syndrome
+7 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+12 more
GLikely benign
FGFR2
(A97T)
Single nucleotide variant
(missense variant +1 more)
FGFR2-realated disorder
+13 more
GConflicting classifications of pathogenicity
FGFR2
(G384R +6 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+11 more
GPathogenic
FGFR2
(Y105C)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome
+12 more
GPathogenic/Likely pathogenic
FGFR2
Single nucleotide variant
(intron variant)
Levy-Hollister syndrome
+13 more
GBenign/Likely benign
FGFR2
(E565G +9 more)
Single nucleotide variant
(missense variant +1 more)
Acrocephalosyndactyly type I
+12 more
GPathogenic/Likely pathogenic
FGFR2
(G338E +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+11 more
GPathogenic/Likely pathogenic
FGFR2
(Q46H)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis, nonspecific
+12 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)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+5 more
GBenign
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
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)
Levy-Hollister syndrome
+8 more
GLikely benign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GBenign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Isolated coronal synostosis
+4 more
GBenign
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)
Saethre-Chotzen syndrome
+5 more
GBenign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 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)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+5 more
GBenign/Likely benign
FGFR2
Microsatellite
(intron variant)
FGFR2-related craniosynostosis
+9 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous 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
(intron variant)
not specified
+7 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+5 more
GBenign/Likely benign
FGFR2
Single nucleotide variant
(intron variant)
FGFR2-related craniosynostosis
+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)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
+6 more
GBenign/Likely benign
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