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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC130059772, LOC130059773
+832 more
Copy number gain
See cases
GPathogenic
LOC132090418, LOC132090419
+788 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+781 more
Copy number gain
See cases
GPathogenic
LOC130059746, LOC130059747
+719 more
Copy number gain
See cases
GPathogenic
LOC130059500, LOC130059501
+691 more
Copy number gain
See cases
GPathogenic
LOC132090448, LOC132090449
+677 more
Copy number gain
See cases
GPathogenic
LOC130059591, LOC130059592
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
CDK10, CHMP1A
+35 more
Copy number loss
See cases
GUncertain significance
CDK10, CHMP1A
+35 more
Copy number loss
See cases
GUncertain significance
CDK10, CHMP1A
+38 more
Copy number loss
See cases
GUncertain significance
CDK10, CENPBD1
+68 more
Copy number gain
See cases
GUncertain significance
LOC130059829, CDK10
+1 more
Deletion
not provided
GPathogenic
CDK10, LINC02166
(A2V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
CDK10, LINC02166
(P4A)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
CDK10, LINC02166
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
CDK10, LINC02166
(C8*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Al Kaissi syndrome
+1 more
GPathogenic/Likely pathogenic
CDK10, LINC02166
(E9Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
CDK10, LINC02166
(L13M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
CDK10, LINC02166
(K14R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
CDK10, LINC02166
Single nucleotide variant
(non-coding transcript variant +2 more)
Al Kaissi syndrome
+1 more
GConflicting classifications of pathogenicity
CDK10, LINC02166
(R29K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CDK10, LINC02166
Single nucleotide variant
(non-coding transcript variant +1 more)
Al Kaissi syndrome
GPathogenic
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