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Links from Gene

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
CFAP107
(A180V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP107
(N101S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP107
(R115C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AADACL3, AADACL4
+80 more
Copy number loss
not specified
GPathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AADACL3, AADACL4
+143 more
Copy number loss
not provided
GPathogenic
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
HNRNPCL1, PRAMEF11
+5 more
Copy number gain
not provided
GUncertain significance
AADACL3, AADACL4
+38 more
Copy number loss
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
AADACL3, AADACL4
+21 more
Copy number loss
not provided
GPathogenic
AADACL3, AADACL4
+11 more
Deletion
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
GUncertain significance
AADACL3, AADACL4
+53 more
Copy number loss
See cases
GLikely pathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+43 more
Copy number gain
See cases
GUncertain significance
AADACL3, AADACL4
+34 more
Copy number loss
See cases
GLikely pathogenic
AADACL3, AADACL4
+97 more
Copy number loss
See cases
GLikely pathogenic
AADACL3, AADACL4
+4 more
Copy number gain
See cases
GLikely benign
AADACL3, AADACL4
+96 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+14 more
Copy number gain
See cases
GLikely benign
CCNL2, CDK11A
+188 more
Copy number loss
See cases
GPathogenic
RER1, RERE
+212 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+34 more
Copy number gain
See cases
GUncertain significance
AADACL3, AADACL4
+209 more
Copy number gain
See cases
GLikely pathogenic
AADACL3, AADACL4
+304 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+370 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+49 more
Copy number gain
See cases
GLikely pathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AGMAT
+151 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+21 more
Copy number gain
See cases
GBenign
AADACL3, AADACL4
+32 more
Copy number gain
See cases
GBenign
AADACL3, AADACL4
+288 more
Copy number loss
See cases
GPathogenic
LOC112577504, LOC112577505
+316 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+337 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+462 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+386 more
Copy number loss
See cases
GPathogenic
LOC129929435, LOC129929436
+505 more
Copy number loss
See cases
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
C1orf167-AS1, AADACL3
+104 more
Copy number gain
See cases
GUncertain significance
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