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Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
LOC130004884, LOC130004885
+438 more
Copy number gain
See cases
GPathogenic
LOC130004881, LOC130004882
+418 more
Copy number loss
See cases
GPathogenic
LOC130005014, LOC130005015
+409 more
Copy number loss
See cases
GPathogenic
FUOM, GLRX3
+399 more
Copy number loss
See cases
GPathogenic
LOC130004911, LOC130004912
+395 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ACADSB
+383 more
Copy number loss
See cases
GPathogenic
LOC130004994, LOC130004995
+361 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+331 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+318 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+311 more
Copy number loss
See cases
GPathogenic
ABRAXAS2, ADAM12
+297 more
Copy number loss
See cases
GPathogenic
LOC130005026, LOC130005027
+257 more
Copy number loss
See cases
GPathogenic
LOC126861090, LOC126861091
+250 more
Copy number loss
See cases
GPathogenic
ADAM12, ADAM8
+241 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+234 more
Copy number loss
See cases
GPathogenic
LOC126861083, LOC126861084
+201 more
Copy number loss
Duane syndrome type 1
+1 more
GPathogenic
ADAM12, ADAM8
+207 more
Copy number loss
See cases
GPathogenic
LOC130005011, LOC130005012
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+199 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+192 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+190 more
Copy number gain
See cases
GLikely pathogenic
ADAM8, ADGRA1
+189 more
Copy number loss
See cases
GPathogenic
LOC130004973, LOC130004974
+170 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+168 more
Copy number gain
See cases
GPathogenic
ADAM8, ADGRA1
+165 more
Copy number loss
See cases
GPathogenic
LOC130004974, LOC130004975
+163 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+158 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+135 more
Copy number loss
See cases
GUncertain significance
ADAM8, ADGRA1
+127 more
Copy number loss
See cases
GLikely pathogenic
ADAM8, ADGRA1
+127 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+115 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+105 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+69 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+79 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+61 more
Copy number loss
See cases
GUncertain significance
KNDC1, LOC110599579
+59 more
Copy number gain
See cases
GUncertain significance
ADAM8, ADGRA1
+59 more
Copy number loss
See cases
GUncertain significance
ADAM8, ADGRA1
+58 more
Copy number gain
See cases
GUncertain significance
ADAM8, CALY
+40 more
Copy number loss
See cases
GBenign
CYP2E1, ECHS1
+30 more
Duplication
not provided
GUncertain significance
PRAP1, ZNF511-PRAP1
(A271T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(R48H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(P277R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(L294V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(G307V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(D321E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(D332H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(H100N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(P106R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(E114K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRAP1, ZNF511-PRAP1
(R349K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABRAXAS2, ACADSB
+80 more
Copy number loss
not provided
GPathogenic
ABRAXAS2, ADAM12
+55 more
Copy number loss
not specified
GPathogenic
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ADAM8, ADGRA1
+31 more
Copy number loss
not specified
GPathogenic
ABRAXAS2, ADAM12
+54 more
Copy number loss
not specified
GPathogenic
ADAM8, ADGRA1
+32 more
Copy number loss
not provided
GPathogenic
ADAM8, ADGRA1
+26 more
Copy number loss
not provided
GUncertain significance
ADAM8, ADGRA1
+38 more
Copy number loss
not provided
GPathogenic
ADAM8, CALY
+11 more
Copy number gain
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+145 more
Copy number gain
Distal trisomy 10q
GPathogenic
TCERG1L, TCERG1L-AS1
+38 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, ADAM12
+62 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
GLRX3, GPR26
+77 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABRAXAS2, ACADSB
+80 more
Copy number loss
not provided
GPathogenic
ADAM8, CALY
+17 more
Duplication
not provided
GUncertain significance
ADAM8, ADGRA1
+27 more
Copy number loss
not provided
GUncertain significance
ADAM8, ADGRA1
+30 more
Copy number loss
not provided
GPathogenic
ADAM12, ADAM8
+47 more
Copy number gain
See cases
GPathogenic
ADAM12, ADAM8
+47 more
Copy number loss
See cases
GPathogenic
GLRX3, INPP5A
+34 more
Copy number loss
See cases
GPathogenic
ADAM8, ADGRA1
+32 more
Copy number loss
not specified
GPathogenic
ADAM8, ADGRA1
+38 more
Copy number loss
not specified
GPathogenic
FAM24A, FAM24B
+80 more
Copy number loss
not specified
GPathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not specified
GPathogenic
LINC01166, MTG1
+17 more
Deletion
not provided
GPathogenic
ADAM8, ADGRA1
+15 more
Deletion
not provided
GPathogenic
ECHS1, EDRF1
+110 more
Copy number gain
not provided
GPathogenic
FANK1, FGFR2
+79 more
Copy number loss
See cases
GPathogenic
STK32C, SYCE1
+43 more
Deletion
Distal 10q deletion syndrome
GPathogenic
LINC01166, CLRN3
+35 more
Copy number loss
Global developmental delay
GPathogenic
MTG1, SPRN
+6 more
Copy number gain
not provided
GLikely benign
PPP2R2D, BNIP3
+37 more
Copy number loss
not provided
GPathogenic
ADAM8, ADGRA1
+35 more
Copy number loss
not provided
GPathogenic
DPYSL4, INPP5A
+37 more
Copy number loss
not provided
GPathogenic
FGFR2, FOXI2
+95 more
Copy number gain
not provided
GPathogenic
ABRAXAS2, ADAM12
+58 more
Copy number gain
not provided
GPathogenic
CALY, CYP2E1
+9 more
Copy number loss
not provided
GUncertain significance
ADAM8, CALY
+10 more
Copy number gain
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+130 more
Copy number gain
not provided
GPathogenic
CYP2E1, ECHS1
+6 more
Copy number loss
not provided
GUncertain significance
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
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