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Links from MedGen

Items: 1 to 100 of 550

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI2
Single nucleotide variant
(splice donor variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely pathogenic
GLI2
(M1131V +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(G1510R +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(S624P +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(D65E)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(V1012L +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(P759fs +2 more)
Deletion
(frameshift variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GPathogenic
GLI2
(V37M)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(N996D +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(N863K +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+3 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Deletion
(intron variant +1 more)
Holoprosencephaly 9
+1 more
GLikely pathogenic
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(P1296L +2 more)
Inversion
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(G477D +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(M55R +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(G553V +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(N296K +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(Y1306C +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(M1403T +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(G1066R +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(H106R)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(I98M)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(S1075G +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(E508K +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+2 more
GLikely benign
GLI2
(S1384L +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(Q854R +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(P965T +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(D986N +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(G40C +1 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(intron variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(Q1177R +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(R986C +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(V1301I +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(P288S +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(G1357S +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(S645* +2 more)
Single nucleotide variant
(nonsense)
Holoprosencephaly 9
+1 more
GPathogenic
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(G964R +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(G482S +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(Q1111E +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(S235L +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(A188T +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(R1470W +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(P786L +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(T678M +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(T1404I +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(P978R +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(A905V +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(I98V)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(R102W)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(A1558T +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(C640S +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+1 more
GBenign
GLI2
(V183M +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(G652R +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(V122L)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(T393A +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(Y1105C +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(L216R +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(S1471C +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+1 more
GUncertain significance
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