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Items: 1 to 100 of 1566

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
OR1F1, OR2C1
+916 more
Copy number gain
See cases
GPathogenic
LOC130058195, LOC130058196
+556 more
Copy number gain
See cases
GPathogenic
RMI2, RNF151
+842 more
Copy number gain
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
LOC130058340, LOC130058341
+925 more
Copy number gain
See cases
GPathogenic
ABCA3, BRICD5
+44 more
Duplication
Endometrial carcinoma
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GBenign
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(3 prime UTR variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
(R1704fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
ABCA3
(R1704*)
Single nucleotide variant
(nonsense)
Hereditary pulmonary alveolar proteinosis
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(E1701K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(A1700T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ABCA3
(P1697L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(H1694Y)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(E1686G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCA3
(L1685V)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+1 more
GLikely benign
ABCA3
(I1683T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ABCA3
(V1680M)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+1 more
GConflicting classifications of pathogenicity
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(V1675M)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(G1674S)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
+1 more
GConflicting classifications of pathogenicity
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(G1664R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(A1660V)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
(D1656A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA3
(D1656N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA3
(R1655H)
Single nucleotide variant
(missense variant)
Interstitial lung disease due to ABCA3 deficiency
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ABCA3
(H1651N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCA3
Single nucleotide variant
(synonymous variant)
Hereditary pulmonary alveolar proteinosis
+2 more
GConflicting classifications of pathogenicity
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
(V1639I)
Single nucleotide variant
(missense variant)
Hereditary pulmonary alveolar proteinosis
GLikely benign
ABCA3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCA3
Deletion
(intron variant)
not provided
GLikely benign
ABCA3
Deletion
(intron variant)
not provided
GLikely benign
ABCA3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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