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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI2
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(M66V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLI2
(H74R)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 9
+2 more
GUncertain significance
GLI2
(P105L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
GLI2
(A151T +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+2 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLI2
(A203T +1 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+4 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+3 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related condition
+1 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI2
(R374C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLI2
(R374H +1 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GLI2
(V432M +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+2 more
GBenign
GLI2
(W474* +2 more)
Single nucleotide variant
(nonsense)
Holoprosencephaly 9
+3 more
GPathogenic
GLI2
(S511L +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+3 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(T620M +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+5 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related condition
+4 more
GBenign
GLI2
(T686M +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+3 more
GBenign/Likely benign
GLI2
(L709P +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GUncertain significance
GLI2
(A714T +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
GLI2
(F729L +2 more)
Single nucleotide variant
(missense variant)
GLI2-related condition
+3 more
GBenign
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GLI2
(A852T +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GUncertain significance
GLI2
(T903S +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+4 more
GBenign/Likely benign
GLI2
(R914Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GLI2
(L935fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+3 more
GBenign/Likely benign
GLI2
(P997R +2 more)
Single nucleotide variant
(missense variant)
GLI2-related condition
+4 more
GConflicting classifications of pathogenicity
GLI2
Single nucleotide variant
(synonymous variant)
GLI2-related condition
+4 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
GLI2
(S1030G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+2 more
GConflicting classifications of pathogenicity
GLI2
(V1117L +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+2 more
GLikely benign
GLI2
(A1156S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(Q1176H +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+4 more
GBenign
GLI2
(G1197D +2 more)
Single nucleotide variant
(missense variant)
GLI2-related condition
+4 more
GBenign/Likely benign
GLI2
(H1279N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI2
(D1306N +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+3 more
GBenign
GLI2
Single nucleotide variant
(synonymous variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+3 more
GBenign
GLI2
(P1315S +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+3 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 9
+4 more
GBenign/Likely benign
GLI2
(M1352V +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+3 more
GBenign/Likely benign
GLI2
(R1384H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLI2
(G1400C +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 9
+2 more
GConflicting classifications of pathogenicity
GLI2
(P1431L +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GLI2
(M1444I +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+3 more
GBenign/Likely benign
GLI2
(L1445F +2 more)
Single nucleotide variant
(missense variant)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
+3 more
GBenign/Likely benign
GLI2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLI2
(D1520N +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
GLI2
(R1543H +2 more)
Single nucleotide variant
(missense variant)
GLI2-related condition
+4 more
GBenign/Likely benign
GLI2
(S1555P +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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