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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC129993982, LOC129993983
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
ADAMTS6, AK6
+139 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS6, AK6
+115 more
Copy number loss
See cases
GPathogenic
AK6, CCDC125
+101 more
Copy number gain
See cases
GUncertain significance
CDK7
(L3V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GLikely benign
CDK7
(T16A +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CDK7
(N35Y)
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
GUncertain significance
CDK7
(F162S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK7
(M139T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDK7
(D210N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC125, CDK7
(K198I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC125, CDK7
(R252S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC125, CDK7
(A324P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS6, CDK7
+40 more
Copy number loss
See cases
GPathogenic
ADAMTS6, CCDC125
+28 more
Copy number loss
not specified
GPathogenic
CCDC125, CCNB1
+4 more
Copy number gain
not provided
GLikely benign
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
CCDC125, CCNB1
+15 more
Copy number gain
not provided
GUncertain significance
CD180, RAD17
+12 more
Copy number loss
not provided
GLikely pathogenic
CCDC125, CCNB1
+8 more
Copy number gain
See cases
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ADAMTS6, CCDC125
+39 more
Copy number gain
See cases
GLikely pathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
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