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Links from Gene

Items: 1 to 100 of 187

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACE2, ACOT9
+314 more
Copy number loss
not specified
GPathogenic
ACE2, AP1S2
+21 more
Copy number gain
not specified
GUncertain significance
ACE2, ACOT9
+305 more
Copy number loss
not specified
GPathogenic
VEGFD, ACE2
+7 more
Copy number gain
not provided
GUncertain significance
ACE2, ACOT9
+120 more
Copy number gain
not provided
GPathogenic
HDAC6, RGN
+275 more
Copy number loss
not provided
GPathogenic
ACE2, AP1S2
+6 more
Copy number gain
not provided
GUncertain significance
CLTRN
(D199E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic
CLTRN
(M203L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CLTRN
(E175G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ACE2, AP1S2
+4 more
Duplication
not provided
GUncertain significance
ACE2, AP1S2
+12 more
Deletion
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GPathogenic
BMX, CA5B
+12 more
Duplication
not provided
GUncertain significance
ACE2, ASB11
+10 more
Copy number gain
not provided
GUncertain significance
ACE2, CA5B
+3 more
Copy number gain
not provided
GUncertain significance
CLTRN
Copy number loss
not provided
GUncertain significance
MIR224, MIR424
+793 more
Copy number loss
See cases
GPathogenic
CT55, CT83
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic
ACE2, ACOT9
+315 more
Copy number loss
Turner syndrome
GPathogenic
ADGRG2, ACE2
+309 more
Complex
Turner syndrome
GPathogenic
ACE2, ACOT9
+267 more
Copy number loss
Turner syndrome
GPathogenic
ABCB7, ABCD1
+822 more
Copy number loss
Turner syndrome
GPathogenic
SCML2, SEPTIN6
+822 more
Copy number gain
Hypotonia
+2 more
GPathogenic
ACE2, AP1S2
+6 more
Copy number gain
not specified
GUncertain significance
CXorf51B, GAGE12H
+821 more
Copy number loss
not provided
GPathogenic
ABCB7, ABCD1
+821 more
Copy number gain
not provided
GPathogenic
CXorf49B, CXorf51A
+821 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+309 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+304 more
Copy number loss
See cases
GPathogenic
FANCB, ARSD-AS1
+125 more
Copy number loss
not provided
GPathogenic
CA5B, INE2
+3 more
Copy number gain
not provided
GUncertain significance
RAI2, AP1S2
+19 more
Copy number loss
not provided
GUncertain significance
BMX, ACE2
+9 more
Copy number gain
not provided
GUncertain significance
FAM9B, AMELX
+82 more
Copy number gain
not provided
GPathogenic
ACE2, ACOT9
+305 more
Copy number loss
not provided
GPathogenic
TCEANC, CLTRN
+90 more
Copy number loss
not provided
GPathogenic
GRPR, STS
+66 more
Copy number loss
not provided
GPathogenic
CLTRN
Deletion
Aminoaciduria
GPathogenic
ACE2, ADGRG2
+46 more
Copy number gain
not provided
GPathogenic
ACE2, ADGRG2
+46 more
Copy number gain
not provided
GPathogenic
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic
RBMXL3, RENBP
+821 more
Copy number loss
not provided
GPathogenic
AP1S2, CA5B
+4 more
Copy number gain
not provided
GUncertain significance
ACE2, AP1S2
+10 more
Copy number gain
not provided
GUncertain significance
ACE2, ADGRG2
+39 more
Copy number gain
not provided
GPathogenic
RBBP7, RBM10
+316 more
Copy number loss
not provided
GPathogenic
ACE2, AP1S2
+11 more
Copy number gain
not provided
GUncertain significance
ACE2, AP1S2
+10 more
Copy number gain
not provided
GUncertain significance
ZNF275, ZNF280C
+821 more
Copy number gain
not provided
GPathogenic
ACE2, ACOT9
+139 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+257 more
Copy number loss
See cases
GPathogenic
SUPT20HL2, SYAP1
+177 more
Deletion
Neurodevelopmental disorder
GPathogenic
CLTRN
Deletion
Aminoaciduria
GPathogenic
PAGE2B, PAGE3
+733 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
ACE2, ACOT9
+94 more
Copy number gain
not provided
GPathogenic
INE2, CLTRN
+6 more
Copy number gain
not provided
GUncertain significance
CLTRN, ACE2
+2 more
Copy number gain
not provided
GUncertain significance
ABCB7, ACE2
+415 more
Copy number gain
not provided
GPathogenic
ANOS1, FANCB
+82 more
Copy number gain
not provided
GPathogenic
ACE2, ACOT9
+170 more
Copy number loss
not provided
GPathogenic
ACE2, ACOT9
+154 more
Copy number loss
not provided
GPathogenic
PRDX4, ADGRG2
+94 more
Copy number loss
not provided
GPathogenic
STS, OFD1
+71 more
Copy number loss
not provided
GPathogenic
FRMPD4, AP1S2
+59 more
Copy number loss
not provided
GPathogenic
ACE2, ACE2-DT
+399 more
Duplication
Autism
GLikely pathogenic
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
ABCB7, ABCD1
+821 more
Copy number gain
See cases
GPathogenic
BEX5, BMP15
+541 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+127 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+316 more
Copy number loss
See cases
GPathogenic
TCEANC, TFE3
+296 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+105 more
Copy number gain
See cases
GPathogenic
ACE2, ACOT9
+133 more
Copy number loss
See cases
GPathogenic
MAGEE1, MAGEE2
+733 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+392 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+302 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+314 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+65 more
Copy number gain
See cases
GLikely pathogenic
ACE2, ACOT9
+121 more
Copy number loss
See cases
GPathogenic
ACE2, ACOT9
+314 more
Copy number loss
See cases
GPathogenic
JADE3, KCND1
+315 more
Copy number loss
See cases
GPathogenic
AWAT2, BCLAF3
+568 more
Copy number gain
not provided
GUncertain significance
ABCB7, ABCD1
+822 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+822 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+822 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+822 more
Copy number gain
See cases
GPathogenic
EIF2S3, ELF4
+821 more
Copy number loss
See cases
GPathogenic
MAGEB17, MAGEB18
+822 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+822 more
Copy number gain
See cases
GPathogenic
GAGE12F, GAGE12G
+822 more
Copy number gain
See cases
GPathogenic
ACE2, ACOT9
+316 more
Copy number gain
See cases
GPathogenic
FOXP3, FOXR2
+786 more
Copy number gain
See cases
GPathogenic
MCTS1, MECP2
+821 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+821 more
Copy number gain
See cases
GPathogenic
ACE2, ACOT9
+316 more
Copy number loss
See cases
GPathogenic
CTPS2, FAM9C
+106 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+821 more
Copy number loss
See cases
GPathogenic
EOLA2, ERAS
+822 more
Copy number loss
See cases
GPathogenic
DCAF8L2, TBL1X
+126 more
Copy number loss
See cases
GPathogenic
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