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Items: 1 to 100 of 867

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC111822949, LOC112272574
+664 more
Copy number gain
See cases
GPathogenic
LOC130057971, LOC130057972
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC130057962, LOC130057963
+517 more
Copy number gain
See cases
GPathogenic
LOC130058025, LOC130058026
+500 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+224 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
LOC130058035, LOC130058036
+202 more
Copy number loss
See cases
GPathogenic
LOC126862250, LOC126862251
+203 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+201 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+195 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+185 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+179 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+174 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+171 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+165 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+159 more
Copy number loss
See cases
GPathogenic
LOC130058072, LOC130058073
+148 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+127 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+121 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+69 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+84 more
Copy number loss
See cases
GPathogenic
ALDH1A3, ALDH1A3-AS1
+32 more
Copy number gain
See cases
GUncertain significance
ALDH1A3, ALDH1A3-AS1
+33 more
Copy number gain
See cases
GUncertain significance
LRRK1, ALDH1A3
+32 more
Copy number loss
See cases
GUncertain significance
ALDH1A3, ALDH1A3-AS1
+32 more
Copy number gain
See cases
Gconflicting data from submitters
ALDH1A3, ALDH1A3-AS1
+32 more
Copy number gain
See cases
GUncertain significance
ALDH1A3, ALDH1A3-AS1
+31 more
Copy number gain
See cases
Gconflicting data from submitters
LRRK1
Deletion
(inframe_deletion)
not provided
GUncertain significance
LRRK1
(M4V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRRK1
(S5L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(C14S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(P17L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(P24S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(E25*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LRRK1
(R26C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(R26H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
(G39R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(S42F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(R44Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(G46S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(P48T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(R51W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(S52C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(R54W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(R54T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(I58T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(R59C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(R59H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(Y62C)
Single nucleotide variant
(missense variant)
Osteosclerotic metaphyseal dysplasia
GUncertain significance
LRRK1
(R63K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(R64W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(R64P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(R64L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(R67C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LRRK1
(G68S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LRRK1
(G68C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(R71Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(E76K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
(A77G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(D79Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(D79G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
(C81Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRRK1
(Q84P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRRK1
(L85M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LRRK1
(K87E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(synonymous variant)
Osteosclerotic metaphyseal dysplasia
GPathogenic
LRRK1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRRK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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