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Items: 1 to 100 of 1001

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
ARX, LOC109610631
+19 more
Copy number gain
See cases
GUncertain significance
ARX, LOC109610631
+12 more
Copy number gain
See cases
GUncertain significance
ARX, LOC110120592
+6 more
Copy number gain
See cases
GUncertain significance
ARX, LOC110120595
+2 more
Duplication
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
ARX
Deletion
(splice acceptor variant)
Developmental and epileptic encephalopathy, 1
GPathogenic
ARX, LOC109610631
Duplication
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
ARX
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
ARX
Single nucleotide variant
(3 prime UTR variant)
ARX-related condition
GLikely benign
ARX
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
ARX
(C562R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
GUncertain significance
ARX
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked, with or without seizures, arx-related
+1 more
GLikely benign
ARX
(K559M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARX
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
ARX
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+4 more
GConflicting classifications of pathogenicity
ARX
(T557R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
ARX
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ARX
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked, with or without seizures, arx-related
+1 more
GLikely benign
ARX
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
ARX
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
ARX
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
ARX
Single nucleotide variant
(synonymous variant)
Intellectual disability, X-linked, with or without seizures, arx-related
+2 more
GLikely benign
ARX
(H542N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARX
(E541D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARX
(E541*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
ARX
(S531fs)
Deletion
(frameshift variant)
Corpus callosum agenesis-abnormal genitalia syndrome
GLikely pathogenic
ARX
(K540E)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked, with or without seizures, arx-related
+1 more
GUncertain significance
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