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Items: 1 to 100 of 1150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
AMPH, ANLN
+197 more
Copy number loss
See cases
GPathogenic
LOC121175342, LOC121740678
+380 more
Copy number loss
See cases
GPathogenic
AEBP1, AMPH
+288 more
Copy number loss
See cases
GPathogenic
LOC129998373, LOC129998374
+231 more
Copy number loss
See cases
GPathogenic
SNORA5A, SNORA5B
+212 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+426 more
Copy number loss
See cases
GPathogenic
GLI3, INHBA
+20 more
Copy number loss
See cases
GPathogenic
GLI3
Single nucleotide variant
not provided
GBenign
GLI3
Single nucleotide variant
Greig cephalopolysyndactyly syndrome
+3 more
GBenign
GLI3, LOC110120590
+2 more
Deletion
Greig cephalopolysyndactyly syndrome
GPathogenic
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Duplication
(3 prime UTR variant)
not provided
+3 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+3 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+3 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+3 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Pallister-Hall syndrome
+3 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Duplication
(3 prime UTR variant)
not provided
GLikely benign
GLI3
Deletion
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Pallister-Hall syndrome
+3 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GLikely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+1 more
GUncertain significance
GLI3
Deletion
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GLikely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Pallister-Hall syndrome
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Duplication
(3 prime UTR variant)
Polydactyly
+2 more
GLikely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Pallister-Hall syndrome
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+1 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+3 more
GBenign/Likely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+1 more
GUncertain significance
GLI3
Insertion
(3 prime UTR variant)
Pallister-Hall syndrome
+2 more
GUncertain significance
GLI3
Duplication
(3 prime UTR variant)
Pallister-Hall syndrome
+3 more
GBenign
GLI3
Deletion
(3 prime UTR variant)
not provided
GLikely benign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+3 more
GConflicting classifications of pathogenicity
GLI3
Duplication
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+3 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLI3
Deletion
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GConflicting classifications of pathogenicity
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GUncertain significance
GLI3
Single nucleotide variant
(3 prime UTR variant)
Polydactyly
+2 more
GBenign
GLI3
Single nucleotide variant
(3 prime UTR variant)
Greig cephalopolysyndactyly syndrome
+1 more
GUncertain significance
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