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Items: 1 to 100 of 272

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC124946344, LOC124946345
+706 more
Copy number gain
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+638 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
LOC121468007, LOC121838584
+339 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+332 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+325 more
Copy number gain
See cases
GUncertain significance
LOC116268457, LOC121468007
+321 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+318 more
Copy number loss
See cases
GPathogenic
LOC130010165, LOC130010166
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
ABHD13, ADPRHL1
+302 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+271 more
Copy number loss
See cases
GPathogenic
LOC130010213, LOC130010214
+261 more
Deletion
Factor VII deficiency
+1 more
GPathogenic
ADPRHL1, ANKRD10
+179 more
Copy number loss
See cases
GPathogenic
MCF2L, MCF2L-AS1
+158 more
Copy number gain
See cases
GLikely pathogenic
ADPRHL1, ARHGEF7
+149 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+143 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+141 more
Copy number gain
See cases
GPathogenic
ADPRHL1, ATP11A
+83 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+68 more
Copy number gain
See cases
GPathogenic
ATP11A, ATP11A-AS1
+22 more
Copy number gain
See cases
GBenign
ATP11A, LOC130010167
(S4N)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 84
GPathogenic
ATP11A, LOC130010167
(L9V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(Y27C)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 84
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP11A
(A37V)
Indel
(missense variant)
Leukodystrophy, hypomyelinating, 24
GUncertain significance
ATP11A
(F60fs)
Deletion
(frameshift variant)
ATP11A-related disorder
GUncertain significance
ATP11A
(Q84E)
Single nucleotide variant
(missense variant)
Leukodystrophy, hypomyelinating, 24
GPathogenic
ATP11A
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP11A
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
ATP11A
(H119L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(F132L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(G136S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(G136D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(R140W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(K141Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(R144Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(F166S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(A181T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP11A
(G208S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(K225E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP11A
(I305N)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 84
GUncertain significance
ATP11A
(S306N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP11A
(R339W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(T347M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(D348N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(F356L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP11A
(Q371E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
ATP11A-related disorder
GLikely benign
ATP11A
(D384N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP11A
(G393W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(C430S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(Y436C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(V437M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP11A
(S458L)
Indel
(missense variant)
ATP11A-related disorder
GUncertain significance
ATP11A
(V462I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(R467C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(R467H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(R473Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP11A
(V489I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(P496L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(G498R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(K500I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATP11A
(V503G)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ATP11A
(S508L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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