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Items: 1 to 100 of 508

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
HMGN5, HNRNPH2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068194, LOC130068195
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863191, LOC126863192
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068432, LOC130068433
+2633 more
Copy number loss
See cases
GPathogenic
GPM6B, GPR143
+919 more
Copy number loss
See cases
GPathogenic
IL1RAPL1, IL2RG
+1398 more
Copy number gain
See cases
GPathogenic
LOC130068090, LOC130068091
+1013 more
Copy number loss
See cases
GPathogenic
LOC116309138, LOC116309139
+530 more
Copy number loss
See cases
GPathogenic
MIR362, MIR3690
+1024 more
Copy number gain
See cases
GPathogenic
LOC130067937, LOC130067936
+983 more
Copy number loss
See cases
GPathogenic
LOC130068031, LOC130068032
+2633 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+818 more
Copy number loss
See cases
GPathogenic
LOC130068111, LOC130068112
+1022 more
Copy number loss
See cases
GPathogenic
LOC110120594, LOC110120595
+2633 more
Copy number loss
See cases
GPathogenic
LOC130067964, LOC130067965
+2633 more
Copy number gain
See cases
GPathogenic
RPGR, RPS6KA3
+1041 more
Copy number loss
See cases
GPathogenic
CT45A7, CT45A8
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068171, LOC130068172
+1069 more
Copy number loss
See cases
GPathogenic
ASMT, ASMTL
+1475 more
Copy number loss
See cases
GPathogenic
LOC130068270, LOC130068271
+1163 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+536 more
Copy number loss
See cases
GPathogenic
LOC129391293, LOC129391294
+1628 more
Copy number loss
See cases
GPathogenic
NBDY, NDP
+1163 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1008 more
Copy number loss
See cases
GPathogenic
LOC130068093, LOC130068094
+909 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
FANCB, FGD1
+1932 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1163 more
Copy number loss
See cases
GPathogenic
PDHA1, PDK3
+1163 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
LOC116309152, LOC116309153
+1024 more
Copy number loss
See cases
GPathogenic
TIMM8A, TIMP1
+2631 more
Copy number loss
See cases
GPathogenic
LOC119407398, LOC119407399
+2632 more
Copy number loss
See cases
GPathogenic
FAM223B, FAM226A
+2628 more
Copy number loss
See cases
GPathogenic
LOC126863207, LOC126863208
+2628 more
Copy number gain
See cases
GPathogenic
LOC130068458, LOC130068459
+2633 more
Copy number gain
See cases
GPathogenic
LOC113875011, LOC113875012
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068362, LOC130068363
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068054, LOC130068055
+2631 more
Copy number loss
See cases
GPathogenic
USP27X-DT, USP51
+1154 more
Copy number loss
See cases
GPathogenic
LOC126863302, LOC126863303
+2631 more
Copy number gain
See cases
GPathogenic
LOC119407406, LOC119407407
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068050, LOC130068051
+533 more
Copy number loss
See cases
GPathogenic
LOC107985657, LOC108251802
+529 more
Copy number loss
See cases
GPathogenic
ACOT9, ABCB7
+2632 more
Copy number loss
See cases
GPathogenic
LOC126863301, LOC126863302
+2632 more
Copy number gain
See cases
GPathogenic
PAGE2, PAGE2B
+1130 more
Copy number loss
See cases
GPathogenic
LOC130067921, LOC130067922
+1798 more
Copy number gain
See cases
GPathogenic
LOC130068116, LOC130068117
+986 more
Copy number loss
See cases
GPathogenic
LOC126863205, LOC126863206
+2632 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1216 more
Copy number loss
See cases
GPathogenic
LOC125467747, LOC125467748
+999 more
Copy number loss
See cases
GPathogenic
LOC107985687, LOC107988021
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
LOC130067947, LOC130067948
+2632 more
Copy number gain
See cases
GPathogenic
CT45A3, CT45A5
+2632 more
Copy number gain
See cases
GPathogenic
PRAF2, PRDX4
+1163 more
Copy number loss
See cases
GPathogenic
LOC129391306, LOC129391307
+1493 more
Copy number loss
See cases
GPathogenic
LOC130067912, LOC130067913
+708 more
Copy number gain
See cases
GPathogenic
CDKL5, CDR1
+2611 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2603 more
Copy number gain
See cases
GPathogenic
LOC126863296, LOC126863297
+2593 more
Copy number gain
See cases
GPathogenic
PDHA1, PDK3
+1130 more
Copy number loss
See cases
GPathogenic
LOC130068368, LOC130068369
+2593 more
Copy number gain
See cases
GPathogenic
LOC130067891, LOC130067892
+2595 more
Copy number gain
See cases
GPathogenic
LOC130068100, LOC130068101
+2585 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+488 more
Copy number gain
See cases
GUncertain significance
LOC130068028, LOC130068029
+960 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+322 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+2046 more
Copy number loss
See cases
GPathogenic
ACOT9, APOO
+113 more
Copy number gain
Polymicrogyria
GPathogenic
CFAP47, CYBB
+64 more
Copy number gain
See cases
GUncertain significance
CFAP47, CYBB
+64 more
Copy number gain
See cases
GUncertain significance
FTHL17, GK
+43 more
Deletion
Congenital adrenal hypoplasia, X-linked
GPathogenic
LOC113875019, IL1RAPL1
+14 more
Deletion
Congenital adrenal hypoplasia, X-linked
GPathogenic
IL1RAPL1, LOC108410393
+11 more
Copy number gain
See cases
GLikely benign
LOC116309149, LOC116309150
+33 more
Deletion
Congenital adrenal hypoplasia, X-linked
GPathogenic
LOC108410393, LOC113875019
+8 more
Copy number loss
See cases
GPathogenic
DMD, FTHL17
+37 more
Copy number loss
See cases
GPathogenic
NR0B1
Copy number loss
See cases
GUncertain significance
LOC108410393, NR0B1
Copy number gain
See cases
GPathogenic
NR0B1
Indel
Congenital adrenal hypoplasia, X-linked
GPathogenic
NR0B1
Deletion
(3 prime UTR variant)
not provided
GBenign
NR0B1
Indel
(splice acceptor variant)
Congenital adrenal hypoplasia, X-linked
GPathogenic
NR0B1
Deletion
Congenital adrenal hypoplasia, X-linked
GPathogenic
NR0B1
Single nucleotide variant
(stop lost)
Congenital adrenal hypoplasia, X-linked
GLikely pathogenic
NR0B1
(I470M)
Single nucleotide variant
(missense variant)
NR0B1-related condition
+3 more
GBenign/Likely benign
NR0B1
Single nucleotide variant
(synonymous variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GLikely benign
NR0B1
(D459fs)
Indel
(frameshift variant)
Congenital adrenal hypoplasia, X-linked
GPathogenic
NR0B1
(T455fs)
Microsatellite
(frameshift variant)
Congenital adrenal hypoplasia, X-linked
GPathogenic
NR0B1
Single nucleotide variant
(synonymous variant)
NR0B1-related condition
+3 more
GBenign/Likely benign
NR0B1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 2
+1 more
GBenign
NR0B1
(I452V)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
+1 more
GUncertain significance
NR0B1
(I452F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NR0B1
(P451A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NR0B1
(R450fs)
Deletion
(frameshift variant)
Congenital adrenal hypoplasia, X-linked
GPathogenic
NR0B1
(F449S)
Single nucleotide variant
(missense variant)
Congenital adrenal hypoplasia, X-linked
GUncertain significance
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