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Links from Gene

Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPAT5, ANGPT2
+180 more
Deletion
Recombinant 8 syndrome
GPathogenic
BLK, C8orf74
+48 more
Copy number gain
not provided
GPathogenic
AGPAT5, ANGPT2
+77 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
DEFB104A, DEFB104B
+39 more
Copy number loss
not provided
GPathogenic
DEFB105A, DEFB107B
+64 more
Copy number loss
not provided
GPathogenic
DEFB1, DEFB107A
+46 more
Copy number loss
not provided
GPathogenic
CLN8, CSMD1
+39 more
Copy number loss
not provided
GPathogenic
SMIM18, SORBS3
+225 more
Copy number gain
not provided
GPathogenic
AGPAT5, ANGPT2
+55 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+47 more
Copy number gain
8p23.1 duplication syndrome
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
AGPAT5, ANGPT2
+53 more
Copy number loss
not provided
GPathogenic
AGPAT5, ANGPT2
+33 more
Copy number gain
not provided
GUncertain significance
AGPAT5, ANGPT2
+93 more
Copy number loss
not provided
GPathogenic
CDCA2, CLDN23
+250 more
Complex
See cases
GPathogenic
AGPAT5, ANGPT2
+56 more
Copy number loss
See cases
GPathogenic
ADAM28, ADAM7
+180 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+46 more
Copy number gain
Neurodevelopmental delay
GPathogenic
ADAMDEC1, ADGRA2
+251 more
Complex
8p inverted duplication/deletion syndrome
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
AGPAT5, ANGPT2
+64 more
Copy number gain
not provided
GPathogenic
SPAG11A, STMN4
+252 more
Copy number gain
Abnormal fetal cardiovascular morphology
GPathogenic
DEFB106B, XKR5
+57 more
Copy number loss
Intellectual disability
+1 more
GPathogenic
CLDN23, DEFB103A
+19 more
Copy number gain
not provided
GUncertain significance
DEFB105B, DEFB106A
+43 more
Copy number gain
not provided
GPathogenic
AGPAT5, ANGPT2
+43 more
Copy number loss
not provided
GPathogenic
AGPAT5, ANGPT2
+39 more
Copy number gain
not provided
GPathogenic
DEFB107A
(V9F)
Single nucleotide variant
(missense variant)
not provided
GBenign
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
USP17L4, USP17L7
+75 more
Copy number loss
not provided
GPathogenic
AGPAT5, ANGPT2
+43 more
Copy number loss
not provided
GPathogenic
AGPAT5, ANGPT2
+37 more
Copy number loss
Tetralogy of Fallot
GPathogenic
DEFB130A, DEFB134
+75 more
Copy number gain
not provided
GPathogenic
AGPAT5, ANGPT2
+36 more
Copy number loss
not provided
GLikely pathogenic
ADAM28, ADAM7
+136 more
Copy number gain
not provided
GPathogenic
LONRF1, NEIL2
+76 more
Copy number gain
not provided
GPathogenic
DEFB105A, USP17L1
+75 more
Copy number gain
not provided
GPathogenic
MTMR9, MYOM2
+73 more
Copy number gain
not provided
GPathogenic
AGPAT5, ANGPT2
+53 more
Copy number loss
not provided
GPathogenic
AGPAT5, ANGPT2
+44 more
Copy number gain
not provided
GPathogenic
DEFB105B, DEFB106A
+43 more
Copy number gain
not provided
GPathogenic
CLDN23, DEFB103A
+21 more
Copy number gain
not provided
GLikely pathogenic
AGPAT5, ANGPT2
+44 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+73 more
Copy number loss
See cases
GLikely pathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+86 more
Copy number gain
See cases
GPathogenic
DEFB135, DEFB136
+73 more
Copy number gain
See cases
GPathogenic
AGPAT5, ANGPT2
+64 more
Copy number gain
See cases
GPathogenic
DEFB103A, DEFB104A
+28 more
Copy number gain
See cases
GBenign
AGPAT5, ANGPT2
+166 more
Copy number loss
See cases
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
AGPAT5, ANGPT2
+166 more
Copy number gain
See cases
GPathogenic
DEFB103A, DEFB103B
+35 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+35 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+26 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+26 more
Copy number gain
See cases
GBenign
LOC129999827, LOC129999828
+393 more
Copy number gain
See cases
GPathogenic
DEFB103A, DEFB103B
+34 more
Copy number loss
See cases
GBenign
DEFA1, DEFA1B
+73 more
Copy number gain
See cases
GBenign
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
DEFB103A, DEFB103B
+43 more
Copy number loss
See cases
GBenign
AGPAT5, ANGPT2
+256 more
Copy number loss
See cases
GPathogenic
FAM90A17, FAM90A18
+48 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+28 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB104A
+19 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+27 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+41 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+34 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+34 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+27 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+33 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+42 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+42 more
Copy number gain
See cases
GBenign
DEFB103B, DEFB104B
+29 more
Copy number gain
See cases
GBenign
DEFB103B, DEFB104B
+29 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+40 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+48 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+33 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+49 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+36 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+36 more
Copy number gain
See cases
GBenign
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
DEFB103A, DEFB103B
+42 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+28 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB103B
+36 more
Copy number loss
See cases
GBenign
DEFB103A, DEFB104A
+20 more
Copy number gain
See cases
GBenign
LOC101929290, LOC102723313
+448 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
DEFB103A, DEFB104A
+27 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+41 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+40 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+37 more
Copy number gain
See cases
GBenign
DEFB103A, DEFB103B
+26 more
Copy number loss
See cases
GBenign
DEFA5, DEFB103A
+50 more
Copy number loss
See cases
GBenign
DEFA5, DEFB103A
+50 more
Copy number gain
See cases
GBenign
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