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Items: 1 to 100 of 991

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
C1QL2, C2orf76
+92 more
Copy number loss
See cases
GPathogenic
GLI2, LOC110120692
+4 more
Copy number gain
See cases
GLikely pathogenic
GLI2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLI2
Single nucleotide variant
(5 prime UTR variant)
GLI2-related disorder
GLikely benign
GLI2
Single nucleotide variant
(5 prime UTR variant)
Holoprosencephaly 9
+2 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(5 prime UTR variant)
Holoprosencephaly 9
GBenign
GLI2
(S4fs)
Duplication
(frameshift variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GPathogenic
GLI2
(T3M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(E11Q)
Single nucleotide variant
(missense variant +1 more)
GLI2-related disorder
GUncertain significance
GLI2
(E11K)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
GUncertain significance
GLI2
(E14G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLI2
(S17fs)
Deletion
(frameshift variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GPathogenic
GLI2
(K16R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GLI2
(I19N)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GUncertain significance
GLI2
(L20V)
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 +1 more)
Holoprosencephaly 9
+1 more
GBenign
GLI2
(A23T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GLI2
(G24D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
(D27fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GLikely benign
GLI2
(P28fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GLI2
(P28Q)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(K30Q)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(A32S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GLI2
(A32T)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GUncertain significance
GLI2
(L35fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
GLI2
(V37M)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(A40T)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+1 more
GBenign
GLI2
(A44V)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+2 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(A47V)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(Q48*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GLI2
(G49E)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
GUncertain significance
GLI2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(intron variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+2 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GLikely benign
GLI2
Insertion
(intron variant)
GLI2-related disorder
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
GLI2-related disorder
GLikely benign
GLI2
Deletion
(intron variant)
GLI2-related disorder
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLI2
Duplication
(intron variant)
not provided
GBenign
GLI2, LOC126806336
Copy number gain
See cases
GLikely pathogenic
GLI2
Deletion
(intron variant +1 more)
Holoprosencephaly 9
+1 more
GLikely pathogenic
GLI2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
GUncertain significance
GLI2
(P51R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GLI2
(L55fs)
Microsatellite
(frameshift variant +1 more)
Holoprosencephaly 9
+2 more
GLikely pathogenic
GLI2
(L54V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
GLI2-related disorder
GLikely benign
GLI2
(H59R)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(A60P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
GLI2-related disorder
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
GLI2
(D65*)
Duplication
(nonsense +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GPathogenic
GLI2
(D65N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLI2
(D65E)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(M66V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLI2
(M66I)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(R67*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
GLI2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GLI2
(H74D)
Single nucleotide variant
(missense variant +1 more)
GLI2-related disorder
GUncertain significance
GLI2
(H74Y)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(H74R)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+2 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
GLI2-related disorder
GLikely benign
GLI2
(E76K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(G82S)
Single nucleotide variant
(missense variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GUncertain significance
GLI2
(V83A)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+2 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+1 more
GLikely benign
GLI2
(G85A)
Single nucleotide variant
(missense variant +1 more)
CNS hypomyelination
+10 more
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Deletion
(intron variant)
not provided
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
not provided
GBenign
GLI2
Single nucleotide variant
(intron variant)
Holoprosencephaly 9
+1 more
GBenign
GLI2
(P86L)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
GLI2-related disorder
+2 more
GLikely benign
GLI2
(S90R)
Single nucleotide variant
(missense variant +1 more)
GLI2-related disorder
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
GLikely benign
GLI2
(G91S)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+1 more
GUncertain significance
GLI2
(S92R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GLI2
(I95V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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