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Items: 1 to 100 of 473

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
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
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
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
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
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
LOC130068028, LOC130068029
+960 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+2046 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2102 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2098 more
Copy number loss
See cases
GPathogenic
LOC121853055, LOC121853056
+309 more
Copy number gain
See cases
GPathogenic
LOC130068217, LOC130068218
+260 more
Copy number gain
See cases
GLikely pathogenic
AKAP4, ARAF
+328 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+213 more
Copy number gain
See cases
GPathogenic
LOC130068243, LOC130068244
+204 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+200 more
Copy number gain
See cases
GPathogenic
AKAP4, ALAS2
+343 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+199 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+198 more
Copy number gain
See cases
GPathogenic
LOC130068235, LOC130068236
+196 more
Copy number loss
See cases
GPathogenic
AKAP4, BMP15
+196 more
Copy number gain
See cases
GPathogenic
CACNA1F, CCDC120
+104 more
Copy number gain
See cases
GUncertain significance
PQBP1, SLC35A2
(R114W +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PQBP1, SLC35A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PQBP1, SLC35A2
(W117R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PQBP1, SLC35A2
(K123R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PQBP1, SLC35A2
(P144R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PQBP1, SLC35A2
(R153Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC35A2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SLC35A2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
SLC35A2
(G305fs +5 more)
Indel
(frameshift variant +1 more)
not provided
GUncertain significance
SLC35A2
(L215I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
SLC35A2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SLC35A2
(V191I +1 more)
Single nucleotide variant
(missense variant +2 more)
See cases
GUncertain significance
SLC35A2
(T186fs +1 more)
Deletion
(frameshift variant +2 more)
not specified
GUncertain significance
SLC35A2
(Q206fs +1 more)
Deletion
(frameshift variant +2 more)
not specified
GLikely benign
SLC35A2
(K406N +5 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
(S165F +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(E322K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC35A2
(G186R +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely benign
SLC35A2
(T321M +3 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
+1 more
GBenign/Likely benign
SLC35A2
(R316P +3 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
GBenign
SLC35A2
(R390H +3 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A2-congenital disorder of glycosylation
+1 more
GBenign/Likely benign
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