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Items: 1 to 100 of 510

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMCX3, CT47A11
+2631 more
Duplication
Autism
+1 more
GPathogenic
ACE2, ACE2-DT
+399 more
Duplication
Autism
GLikely pathogenic
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
ASMTL, ASMTL-AS1
+282 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
PDK3, PHEX
+530 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
ACE2, ACE2-DT
+536 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
ACE2, ACE2-DT
+533 more
Copy number loss
See cases
GPathogenic
FANCB, FRMPD4
+529 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
ACE2, ACE2-DT
+301 more
Copy number loss
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
ACE2, ACE2-DT
+402 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
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
ACE2, ACE2-DT
+262 more
Copy number gain
See cases
GPathogenic
LOC129391311, LOC129391312
+2585 more
Copy number gain
See cases
GPathogenic
LOC130067992, LOC130067993
+488 more
Copy number gain
See cases
GUncertain significance
LOC130068092, LOC130068093
+960 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+168 more
Copy number gain
See cases
GPathogenic
ACE2, ACE2-DT
+171 more
Copy number loss
See cases
GUncertain significance
ACE2, ACE2-DT
+322 more
Copy number loss
See cases
GPathogenic
ACE2, ACE2-DT
+149 more
Copy number gain
See cases
GLikely pathogenic
SYTL4, SYTL5
+2046 more
Copy number loss
See cases
GPathogenic
RPS6KA3, RS1
+172 more
Copy number gain
See cases
GPathogenic
PIGA
Deletion
(non-coding transcript variant +1 more)
not provided
GLikely benign
PIGA
Deletion
(non-coding transcript variant +1 more)
not provided
GLikely benign
PIGA
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
PIGA
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
PIGA
(T483A +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(N244K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PIGA
(E476G +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(E242K +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
(G475V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(G474V +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GBenign
PIGA
(G474R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PIGA
Single nucleotide variant
(synonymous variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely benign
PIGA
(R473T +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(Y234C +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
+1 more
GBenign/Likely benign
PIGA
(N233del +1 more)
Deletion
(inframe_deletion +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
PIGA
(T465fs +1 more)
Duplication
(frameshift variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GLikely pathogenic
PIGA
(A229T +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 2
GUncertain significance
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