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Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+279 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+283 more
Copy number loss
See cases
GPathogenic
LOC129991977, LOC129991978
+283 more
Copy number gain
See cases
GPathogenic
ADD1, ATP5ME
+250 more
Copy number loss
See cases
GPathogenic
NELFA, NICOL1
+504 more
Copy number loss
See cases
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
AFAP1, AFAP1-AS1
+633 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+504 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+277 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+277 more
Copy number gain
See cases
GPathogenic
ABLIM2, ADD1
+461 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+597 more
Copy number loss
See cases
GPathogenic
CTBP1-AS, CTBP1-DT
+278 more
Copy number loss
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC129992002, LOC129992003
+597 more
Copy number loss
See cases
GPathogenic
LOC101928279, LOC101928306
+346 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+479 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+569 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+536 more
Copy number loss
See cases
GPathogenic
ADD1, ATP5ME
+274 more
Copy number loss
See cases
GPathogenic
ATP5ME, CFAP99
+290 more
Copy number loss
See cases
GPathogenic
ADD1, ATP5ME
+271 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+363 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+657 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+313 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+623 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+323 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+327 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+322 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+278 more
Copy number gain
See cases
GPathogenic
LOC129991980, LOC129991981
+319 more
Copy number loss
See cases
GPathogenic
LOC123466217, LOC123466218
+277 more
Copy number loss
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
NSD2, NSG1
+438 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+618 more
Copy number gain
See cases
GPathogenic
LOC129992049, LOC129992050
+537 more
Copy number loss
See cases
GPathogenic
LOC129992097, LOC129992098
+256 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+300 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+291 more
Copy number loss
See cases
GPathogenic
LOC129992176, LOC129992177
+439 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+659 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+414 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+500 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+216 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+149 more
Copy number gain
See cases
GUncertain significance
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADRA2C, BLOC1S4
+181 more
Deletion
not provided
GLikely pathogenic
MSANTD1
(R3C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
(G6R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MSANTD1
(P7Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
(S15C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSANTD1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MSANTD1
(G22S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MSANTD1
(G17S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(V20M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R76C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(E124G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(S146P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(Q162R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(E166K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R168C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R168H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(E170K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(E183D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(P191L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(K217N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(K218Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(A236T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R246C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(R246H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MSANTD1
(S277R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+83 more
Deletion
not provided
GPathogenic
ADD1, DOK7
+21 more
Deletion
not provided
GPathogenic
ADD1, DOK7
+21 more
Duplication
not provided
GUncertain significance
ADD1, DOK7
+8 more
Deletion
Congenital myasthenic syndrome 10
+1 more
GPathogenic
ABLIM2, ACOX3
+140 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+120 more
Copy number loss
not specified
GPathogenic
ADD1, ADRA2C
+58 more
Copy number loss
not specified
GPathogenic
ADD1, ADRA2C
+82 more
Copy number loss
not specified
GPathogenic
ADD1, ATP5ME
+51 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
MSANTD1, MSX1
+117 more
Copy number loss
not provided
GPathogenic
ADD1, ADRA2C
+79 more
Copy number gain
not provided
GPathogenic
USP17L24, USP17L25
+132 more
Copy number loss
not provided
GPathogenic
RNF212, RNF4
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
FGFRL1, GAK
+46 more
Duplication
Fibrous dysplasia of jaw
GUncertain significance
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+117 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
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