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Items: 1 to 100 of 342

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068573, LOC130068624
+2631 more
Duplication
Schizophrenia
+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
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
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
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
+322 more
Copy number loss
See cases
GPathogenic
SYTL4, SYTL5
+2046 more
Copy number loss
See cases
GPathogenic
RPS6KA3, RS1
+172 more
Copy number gain
See cases
GPathogenic
MBTPS2
Microsatellite
not provided
GBenign
MBTPS2
Single nucleotide variant
not provided
GBenign
LOC130068038, MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130068038, MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130068038, MBTPS2
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
MBTPS2
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MBTPS2
(V7L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MBTPS2
(V11M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC130068039, MBTPS2
(V17I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130068039, MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130068039, MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130068039, MBTPS2
(V23L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130068039, MBTPS2
(V23L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS2
Single nucleotide variant
(intron variant)
not provided
GBenign
MBTPS2
(N40S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MBTPS2
(N40T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MBTPS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS2
(G42R)
Single nucleotide variant
(missense variant)
Olmsted syndrome, X-linked
+1 more
GUncertain significance
MBTPS2
(H49Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS2
(R59C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta, type 19
GUncertain significance
MBTPS2
(R59H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS2
(Y73N)
Single nucleotide variant
(missense variant)
not provided
GBenign
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