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Items: 1 to 100 of 786

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
FGFR2, GRK5
+119 more
Copy number gain
See cases
GPathogenic
LOC130004884, LOC130004885
+438 more
Copy number gain
See cases
GPathogenic
LOC130004881, LOC130004882
+418 more
Copy number loss
See cases
GPathogenic
LOC130005014, LOC130005015
+409 more
Copy number loss
See cases
GPathogenic
FGFR2
Single nucleotide variant
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
(3 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Saethre-Chotzen syndrome
+12 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)
Beare-Stevenson cutis gyrata syndrome
+4 more
GBenign/Likely benign
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)
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)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Duplication
(3 prime UTR variant +1 more)
Acrocephalosyndactyly type I
+8 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)
Beare-Stevenson cutis gyrata syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR2
Deletion
(3 prime UTR variant +1 more)
Beare-Stevenson cutis gyrata syndrome
+8 more
GLikely benign
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)
not provided
+5 more
GBenign
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
+5 more
GBenign/Likely benign
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)
FGFR2-related disorder
GLikely benign
FGFR2
Single nucleotide variant
(3 prime UTR variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+6 more
GBenign
FGFR2
(V702I)
Single nucleotide variant
(3 prime UTR variant +2 more)
Saethre-Chotzen syndrome
+5 more
GUncertain significance
FGFR2
Single nucleotide variant
(3 prime UTR variant +2 more)
FGFR2-related disorder
GLikely benign
FGFR2
(K682fs)
Deletion
(3 prime UTR variant +2 more)
Acrocephalosyndactyly type I
+9 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
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
(I587fs +8 more)
Deletion
(frameshift variant +2 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR2
(Q811K +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
(L581P +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+11 more
GConflicting classifications of pathogenicity
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
(C580W +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
(E806K +8 more)
Single nucleotide variant
(missense variant +2 more)
Saethre-Chotzen syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR2
(Y577* +8 more)
Single nucleotide variant
(nonsense +2 more)
FGFR2-related disorder
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Saethre-Chotzen syndrome
+6 more
GBenign/Likely benign
FGFR2
(P687S +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
FGFR2
(P572L +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
(P711S +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
(S571fs +8 more)
Duplication
(frameshift variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
(V680F +8 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FGFR2
(C562R +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FGFR2
(P667S +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
(E777K +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+2 more
GBenign/Likely benign
FGFR2
(D543N +8 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
Single nucleotide variant
(intron variant)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
Single nucleotide variant
(intron variant)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FGFR2
Deletion
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FGFR2
Insertion
(3 prime UTR variant +1 more)
not provided
GLikely benign
FGFR2
Duplication
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
FGFR2
Single nucleotide variant
(stop lost +1 more)
not specified
Gnot provided
FGFR2
Duplication
(intron variant)
FGFR2-related disorder
GLikely benign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
not provided
GBenign
FGFR2
Single nucleotide variant
(intron variant)
Craniosynostosis syndrome
+6 more
GBenign
FGFR2
(T649A +9 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
(K634Q +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FGFR2
(T521A +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
+12 more
GBenign/Likely benign
FGFR2
(P516S +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+1 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
FGFR2-related craniosynostosis
GLikely benign
FGFR2
(R509T +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FGFR2
(M733I +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
GUncertain significance
FGFR2
(M620I +9 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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