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 773

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
+818 more
Copy number loss
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
PHKA2-AS1, PIGA
+708 more
Copy number gain
See cases
GPathogenic
TSR2, TXLNG
+2611 more
Copy number loss
See cases
GPathogenic
DMRTC1, DMRTC1B
+2603 more
Copy number gain
See cases
GPathogenic
MIR1468, MIR1587
+2598 more
Copy number gain
Klinefelter syndrome
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
BCOR, LOC107985687
+40 more
Copy number gain
See cases
GUncertain significance
BCOR, LOC107985687
+25 more
Copy number gain
See cases
GUncertain significance
BCOR, LOC130068113
Deletion
Oculofaciocardiodental syndrome
GPathogenic
BCOR, LOC126863239
Deletion
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Duplication
(3 prime UTR variant)
not provided
GBenign
BCOR, LOC126863239
Deletion
Oculofaciocardiodental syndrome
GPathogenic
BCOR, LOC126863239
Deletion
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(S1695I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCOR
(H1711P +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
(D1691A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCOR
(E1667D +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(P1666S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCOR
(A1663V +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(D1678N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCOR
(E1636Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
(N1634S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCOR
(F1632L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCOR
(R1629H +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
+1 more
GConflicting classifications of pathogenicity
BCOR
(R1681C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
(I1627L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCOR
(S1643P +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(K1620E +2 more)
Single nucleotide variant
(missense variant)
BCOR-related disorder
GUncertain significance
BCOR
(D1634del +2 more)
Deletion
(inframe_deletion)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
+1 more
GBenign/Likely benign
BCOR
(S1615L +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(R1661* +2 more)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination