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Items: 1 to 100 of 1088

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
DUSP4, EBF2
+1018 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+935 more
Copy number gain
See cases
GPathogenic
LOC130000086, LOC130000087
+932 more
Copy number gain
See cases
GPathogenic
LOC121331299, LOC121331300
+868 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+927 more
Copy number gain
See cases
GPathogenic
LOC130000305, LOC130000306
+927 more
Copy number gain
See cases
GPathogenic
LOC130000069, LOC130000070
+868 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+816 more
Copy number gain
See cases
GPathogenic
LOC130000275, LOC130000276
+927 more
Copy number gain
See cases
GPathogenic
LOC101929258, LOC101929470
+920 more
Copy number gain
See cases
GPathogenic
LOC113788273, LOC113788274
+805 more
Copy number gain
See cases
GPathogenic
LOC129999948, LOC129999949
+855 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+920 more
Copy number gain
See cases
GPathogenic
LOC130000249, LOC130000250
+789 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+920 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+898 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+591 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+286 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+417 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+276 more
Copy number loss
See cases
GPathogenic
LOC124174256, LOC124174257
+541 more
Copy number gain
See cases
GPathogenic
ADGRA2, ADRB3
+53 more
Copy number loss
Hypogonadotropic hypogonadism 2 with or without anosmia
GPathogenic
ADAM18, ADAM2
+180 more
Copy number gain
See cases
GPathogenic
ADAM32, ADAM9
+79 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+98 more
Copy number loss
See cases
GPathogenic
ADAM18, ADAM2
+81 more
Copy number loss
See cases
GPathogenic
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
FGFR1, LOC102723716
Deletion
(3 prime UTR variant)
Interfrontal craniofaciosynostosis
+4 more
GLikely benign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GConflicting classifications of pathogenicity
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GLikely benign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GBenign
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Osteoglophonic dysplasia
+3 more
GBenign/Likely benign
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
LOC102723716, FGFR1
(G822V +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+5 more
GBenign/Likely benign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
LOC102723716, FGFR1
(A711T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
(P704R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
(R700* +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
GLikely pathogenic
FGFR1, LOC102723716
(K691N +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
(L686F +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
FGFR1-related disorder
GUncertain significance
FGFR1, LOC102723716
(L679fs +2 more)
Deletion
(non-coding transcript variant +2 more)
FGFR1-related disorder
GUncertain significance
FGFR1, LOC102723716
(T770M +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
(T767M +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+4 more
GBenign/Likely benign
FGFR1, LOC102723716
(D678G +2 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+4 more
GConflicting classifications of pathogenicity
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+4 more
GBenign/Likely benign
FGFR1, LOC102723716
Single nucleotide variant
(intron variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GBenign
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
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