U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
VAMP7, VBP1
+2633 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068116, LOC130068117
+2633 more
Copy number gain
See cases
GPathogenic
NAA10, NALF2
+2633 more
Copy number loss
See cases
GPathogenic
LOC130068159, LOC130068160
+2633 more
Copy number gain
See cases
GPathogenic
LOC111365170, LOC111365174
+2633 more
Copy number loss
See cases
GPathogenic
LOC110120679, LOC110120680
+2633 more
Copy number gain
See cases
GPathogenic
ITGB1BP2, ITIH6
+2632 more
Copy number gain
See cases
GPathogenic
GK, GK-AS1
+1475 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1628 more
Copy number loss
See cases
GPathogenic
LOC130068277, LOC130068278
+2632 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1932 more
Copy number loss
See cases
GPathogenic
LOC126863344, LOC126863345
+2632 more
Copy number loss
See cases
GPathogenic
AP1S2, APEX2
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number loss
See cases
GPathogenic
LOC130068156, LOC130068157
+2632 more
Copy number loss
See cases
GPathogenic
LOC125467792, LOC125467793
+2628 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+2628 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2633 more
Copy number gain
See cases
GPathogenic
VCX3B, VEGFD
+2633 more
Copy number loss
See cases
GPathogenic
CENPVL1, CENPVL2
+2632 more
Copy number gain
See cases
GPathogenic
CT47A6, CT47A7
+2632 more
Copy number gain
See cases
GPathogenic
LOC116309160, LOC116309161
+2631 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+2631 more
Copy number loss
See cases
GPathogenic
CTPS2, CUL4B
+2631 more
Copy number gain
See cases
GPathogenic
LOC130068611, LOC130068612
+2632 more
Copy number loss
See cases
GPathogenic
LOC130068404, LOC130068405
+2632 more
Copy number loss
See cases
GPathogenic
GPR101, GPR119
+2632 more
Copy number gain
See cases
GPathogenic
ABCB7, ACE2
+1798 more
Copy number gain
See cases
GPathogenic
LOC109396974, LOC109504725
+2632 more
Copy number gain
See cases
GPathogenic
WDR13, WDR44
+2632 more
Copy number loss
See cases
Gconflicting data from submitters
ABCB7, ABCD1
+2632 more
Copy number gain
See cases
GPathogenic
LINC00629, LINC00630
+2632 more
Copy number gain
See cases
GPathogenic
MIR1321, MIR1468
+1493 more
Copy number loss
See cases
GPathogenic
TSR2, TXLNG
+2611 more
Copy number loss
See cases
GPathogenic
DMRTC1, DMRTC1B
+2603 more
Copy number gain
See cases
GPathogenic
DLG3, DLG3-AS1
+2593 more
Copy number gain
See cases
GPathogenic
LOC116309156, LOC116309157
+2593 more
Copy number gain
See cases
GPathogenic
LOC130068344, LOC130068345
+2595 more
Copy number gain
See cases
GPathogenic
LOC129391311, LOC129391312
+2585 more
Copy number gain
See cases
GPathogenic
SYTL4, SYTL5
+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
LOC130068430, LOC130068431
+640 more
Copy number loss
See cases
GPathogenic
LOC130068386, LOC130068387
+824 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1590 more
Copy number loss
See cases
GPathogenic
EDA2R, EFNB1
+410 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1476 more
Copy number loss
See cases
GPathogenic
LOC126863296, LOC126863297
+1467 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1467 more
Copy number gain
See cases
GPathogenic
LOC126863270, LOC126863271
+263 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1466 more
Copy number gain
See cases
GPathogenic
LOC130068371, LOC130068372
+1464 more
Copy number loss
See cases
GPathogenic
KIF4A, LOC130068402
+206 more
Duplication
Xq13q21 duplication
GPathogenic
TEX11, TSIX
+206 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+1254 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+1249 more
Copy number loss
See cases
GPathogenic
LOC130068496, LOC130068497
+1244 more
Copy number loss
See cases
GPathogenic
MCTS1, MECP2
+1229 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+1230 more
Copy number loss
See cases
GPathogenic
LOC126863325, LOC126863326
+1225 more
Copy number loss
See cases
GPathogenic
ATP7A, ATRX
+7 more
Copy number gain
See cases
GUncertain significance
ATP7A, ATRX
+7 more
Copy number gain
See cases
GUncertain significance
ATP7A, ATRX
+7 more
Copy number gain
See cases
GUncertain significance
ATP7A, ATRX
+20 more
Copy number gain
See cases
GPathogenic
MAGT1
Copy number gain
See cases
GUncertain significance
MAGT1
Copy number gain
See cases
GUncertain significance
MAGT1
Copy number gain
See cases
GPathogenic
MAGT1
Copy number gain
See cases
GUncertain significance
MAGT1
Copy number gain
See cases
Gconflicting data from submitters
MAGT1
Copy number gain
See cases
GUncertain significance
MAGT1
Copy number gain
See cases
GUncertain significance
MAGT1
Copy number gain
See cases
GUncertain significance
MAGT1
Copy number gain
See cases
GUncertain significance
ATP7A, COX7B
+15 more
Copy number gain
See cases
GUncertain significance
COX7B, LOC130068460
+2 more
Copy number gain
See cases
GPathogenic
MAGT1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAGT1
Single nucleotide variant
(intron variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
+1 more
GUncertain significance
MAGT1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MAGT1
(H326R +1 more)
Single nucleotide variant
(missense variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GUncertain significance
MAGT1
(K356N +1 more)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation
GPathogenic
MAGT1
(I320V +1 more)
Single nucleotide variant
(missense variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GUncertain significance
MAGT1
(M317I +1 more)
Single nucleotide variant
(missense variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GUncertain significance
MAGT1
(M317V +1 more)
Single nucleotide variant
(missense variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GUncertain significance
MAGT1
(W316* +1 more)
Single nucleotide variant
(nonsense)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GPathogenic
MAGT1
Single nucleotide variant
(synonymous variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GLikely benign
MAGT1
(V343del +1 more)
Microsatellite
(inframe_deletion)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GUncertain significance
MAGT1
(V311G)
Single nucleotide variant
(missense variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
+2 more
GBenign/Likely benign
MAGT1
(C303* +1 more)
Single nucleotide variant
(nonsense)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GPathogenic
MAGT1
(M334V +1 more)
Single nucleotide variant
(missense variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
+1 more
GUncertain significance
MAGT1
Single nucleotide variant
(intron variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GUncertain significance
MAGT1
Microsatellite
(intron variant)
not provided
GLikely benign
MAGT1
Microsatellite
(intron variant)
not provided
GLikely benign
MAGT1
Microsatellite
(intron variant)
not provided
GBenign
MAGT1
Microsatellite
(intron variant)
not provided
GBenign
MAGT1
Microsatellite
(intron variant)
not provided
GBenign
MAGT1
Microsatellite
(intron variant)
not provided
GBenign
MAGT1
Single nucleotide variant
(intron variant)
not provided
GBenign
MAGT1
Single nucleotide variant
(intron variant)
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
GLikely benign
Format
Items per page
Sort by
Choose Destination