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Items: 1 to 100 of 239

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068573, LOC130068624
+2631 more
Duplication
Schizophrenia
+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
LOC130067993, LOC130067994
+919 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1398 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1013 more
Copy number loss
See cases
GPathogenic
FRMPD4-AS1, FTHL17
+1024 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+983 more
Copy number loss
See cases
GPathogenic
LOC130068159, LOC130068160
+2633 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1022 more
Copy number loss
See cases
GPathogenic
LOC111365170, LOC111365174
+2633 more
Copy number loss
See cases
GPathogenic
LOC110120679, LOC110120680
+2633 more
Copy number gain
See cases
GPathogenic
LOC130068097, LOC130068098
+1041 more
Copy number loss
See cases
GPathogenic
ITGB1BP2, ITIH6
+2632 more
Copy number gain
See cases
GPathogenic
LOC130068002, LOC130068003
+1069 more
Copy number loss
See cases
GPathogenic
GK, GK-AS1
+1475 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1163 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1628 more
Copy number loss
See cases
GPathogenic
LOC130068016, LOC130068017
+1163 more
Copy number loss
See cases
GPathogenic
LOC130067965, LOC130067966
+1008 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+909 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
GAGE12H, GAGE12I
+1163 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+1163 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
ACE2, ACE2-DT
+1024 more
Copy number loss
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
LOC121627957, LOC121627958
+1154 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
LOC130068209, LOC130068210
+1130 more
Copy number loss
See cases
GPathogenic
ABCB7, ACE2
+1798 more
Copy number gain
See cases
GPathogenic
LOC126863219, LOC126863220
+986 more
Copy number loss
See cases
GPathogenic
LOC109396974, LOC109504725
+2632 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+1216 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+999 more
Copy number loss
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
LOC107652445, LOC107985657
+1163 more
Copy number loss
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
ACE2, ACE2-DT
+1130 more
Copy number loss
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
LOC130068092, LOC130068093
+960 more
Copy number loss
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
AKAP4, ARAF
+309 more
Copy number gain
See cases
GPathogenic
ARAF, CACNA1F
+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
AKAP4, BMP15
+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
LOC130068245, LOC130068246
+198 more
Copy number gain
See cases
GPathogenic
AKAP4, BMP15
+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
AKAP4, BMP15
+157 more
Copy number gain
See cases
GPathogenic
TFE3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TFE3
(E572G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TFE3
(S462R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TFE3
(R460H +1 more)
Single nucleotide variant
(missense variant)
Renal cell carcinoma, Xp11-associated
GUncertain significance
TFE3
(R440Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TFE3
(G426E +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TFE3
(E530del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
GBenign
TFE3
(E425V +1 more)
Single nucleotide variant
(missense variant)
TFE3-related disorder
GUncertain significance
TFE3
(H404N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFE3
(Q380H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TFE3
(A379V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TFE3
(A484T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TFE3
(G377fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TFE3
(G376V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TFE3
(G375E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TFE3
(G480V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TFE3
(G375A +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TFE3
(A369T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TFE3
(G365S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TFE3
(S353N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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