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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
LOC130063908, LOC130063909
+695 more
Copy number gain
See cases
GPathogenic
ADGRL1, ADGRL1-AS1
+237 more
Copy number loss
See cases
GPathogenic
ADGRE2, ADGRE3
+77 more
Copy number loss
See cases
GUncertain significance
LOC126862869, LOC126862870
+41 more
Copy number gain
See cases
GUncertain significance
LOC130063834, LOC130063835
+105 more
Copy number loss
Chromosome 19p13.13 deletion syndrome
GPathogenic
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CASP14
(L36V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(D37G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CASP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CASP14
(L65V)
Single nucleotide variant
(missense variant)
not provided
GBenign
CASP14
(R75P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(A88D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(E110K)
Single nucleotide variant
(missense variant)
Ichthyosis, congenital, autosomal recessive 12
GUncertain significance
CASP14
(A111V)
Single nucleotide variant
(missense variant)
Ichthyosis, congenital, autosomal recessive 12
GUncertain significance
CASP14
(R121*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
CASP14
(I128N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(R133*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
(R137M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(M150K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CASP14
(D154fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CASP14
(I159V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(V172I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CASP14
(R179Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CASP14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CASP14
(L191V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
Single nucleotide variant
(intron variant)
not provided
GBenign
CASP14
(R236Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CASP14
(Y240F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP14
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CASP14
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CASP14
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CASP14
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CASP14
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ADGRE2, AKAP8
+55 more
Copy number gain
not provided
GUncertain significance
CASP14
Deletion
not specified
GUncertain significance
ADGRE2, AKAP8
+57 more
Deletion
not provided
GUncertain significance
ADGRE2, ADGRE3
+55 more
Copy number loss
not specified
GPathogenic
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
ADGRE2, ADGRE3
+30 more
Copy number loss
not provided
GPathogenic
ZNF426, ZNF428
+1373 more
Copy number gain
not provided
GPathogenic
IGFL2, IGFL3
+1374 more
Copy number gain
not provided
GPathogenic
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
LILRA4, LILRA5
+1364 more
Copy number gain
See cases
GPathogenic
ADGRE2, AKAP8
+45 more
Copy number loss
See cases
GPathogenic
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