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Items: 1 to 100 of 1496

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935480, LOC129935481
+1299 more
Copy number gain
See cases
GPathogenic
LOC129935841, LOC129935842
+1148 more
Copy number gain
See cases
GPathogenic
ABCA12, ATIC
+36 more
Copy number gain
See cases
GUncertain significance
ABCA12, BARD1
+10 more
Copy number gain
See cases
GUncertain significance
ABCA12, ATIC
+11 more
Copy number gain
See cases
GUncertain significance
ABCA12, LOC129388992
+2 more
Copy number gain
See cases
GUncertain significance
ABCA12, SNHG31
Duplication
(3 prime UTR variant +1 more)
Congenital ichthyosiform erythroderma
GBenign
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GBenign
SNHG31, ABCA12
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
SNHG31, ABCA12
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GBenign
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
SNHG31, ABCA12
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
SNHG31, ABCA12
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Duplication
(3 prime UTR variant +1 more)
Congenital ichthyosiform erythroderma
GLikely benign
ABCA12, SNHG31
Duplication
(3 prime UTR variant +1 more)
Congenital ichthyosiform erythroderma
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GBenign
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GBenign
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GBenign
SNHG31, ABCA12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(E2594fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ABCA12, SNHG31
(E2276K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABCA12, SNHG31
(I2266L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(I2266V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SNHG31, ABCA12
(G2263V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(Y2254C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ABCA12, SNHG31
Duplication
(intron variant)
not provided
GBenign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Deletion
(intron variant)
not provided
GBenign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
(L2558P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive congenital ichthyosis 4B
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(T2544I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(A2533E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCA12, SNHG31
(A2533T +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Deletion
(intron variant)
not provided
GBenign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(T2499N +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital ichthyosis of skin
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
(V2170I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
(R2482* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lamellar ichthyosis
+2 more
GPathogenic
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
Congenital ichthyosis of skin
+1 more
GConflicting classifications of pathogenicity
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA12, SNHG31
(I2152T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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