U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG6, DLEU2L
+9 more
Deletion
Craniosynostosis syndrome
GUncertain significance
Duplication
Craniosynostosis syndrome
GUncertain significance
DHRS3
Deletion
(genic upstream transcript variant)
Craniosynostosis syndrome
GUncertain significance
IL11RA
(W307R)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
GPathogenic
FGFR2
(A339V +9 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
+2 more
GUncertain significance
CNPY2
(G16fs)
Deletion
(frameshift variant)
Abnormality of the face
+1 more
GLikely pathogenic
GPC4
(V152fs)
Deletion
(frameshift variant)
Craniosynostosis syndrome
GLikely pathogenic
TFAP2B
(R382*)
Single nucleotide variant
(nonsense)
Craniosynostosis syndrome
GLikely pathogenic
TFAP2B
(K276R)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GLikely pathogenic
TFAP2B
Single nucleotide variant
(splice donor variant)
Craniosynostosis syndrome
GLikely pathogenic
TFAP2B
(M1I)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
GLikely pathogenic
CTNNA1
Duplication
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
GLikely pathogenic
GLI2
(A409T +2 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GLikely pathogenic
SOX11
(R64H)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GLikely pathogenic
TCF12
(E288fs +9 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GLI3
Deletion
(splice acceptor variant +1 more)
Craniosynostosis syndrome
GPathogenic
TCF20
(L389fs)
Microsatellite
(frameshift variant)
Craniosynostosis syndrome
GPathogenic
MEGF8
(S2590del +1 more)
Deletion
(inframe_deletion)
Polydactyly
+1 more
GLikely pathogenic
MAN2B1
(H72fs)
Deletion
(frameshift variant)
Craniosynostosis syndrome
+1 more
GPathogenic
RUNX2
(V100I +1 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+5 more
GBenign/Likely benign
FGFR1
(V758M +7 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+5 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
(T770M +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000232
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000232
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
(V125M +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+5 more
GConflicting classifications of pathogenicity
FGFR1
(P420A +5 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
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, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
(K691N +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+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
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000233
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
(P56L +1 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 1
+5 more
GConflicting classifications of pathogenicity
FGFR1
(R586P +7 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+5 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
(P707L +6 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+7 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)
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)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
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)
Hypogonadotropic hypogonadism 2 with or without anosmia
+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, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+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)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1, LOC130000233
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000233
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
FGFR2
(D293G +9 more)
Single nucleotide variant
(missense variant +1 more)
Isolated coronal synostosis
+5 more
GConflicting classifications of pathogenicity
FGFR2
(H594R +9 more)
Single nucleotide variant
(missense variant +1 more)
Isolated coronal synostosis
+4 more
GUncertain significance
FGFR2
(V702I)
Single nucleotide variant
(3 prime UTR variant +2 more)
Isolated coronal synostosis
+5 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)
Isolated coronal synostosis
+5 more
GConflicting classifications of pathogenicity
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)
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)
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)
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
(intron variant)
Beare-Stevenson cutis gyrata syndrome
+6 more
GBenign/Likely benign
FGFR2
(L143F +3 more)
Single nucleotide variant
(missense variant +2 more)
Beare-Stevenson cutis gyrata syndrome
+13 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 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
Single nucleotide variant
Craniosynostosis syndrome
+4 more
GUncertain significance
FGFR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Craniosynostosis syndrome
+12 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
GUncertain significance
Format
Items per page
Sort by
Choose Destination