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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAM2, NDUFV3
+1159 more
Copy number gain
See cases
GPathogenic
PDE9A-AS1, PDXK
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066843, LOC130066844
+1160 more
Copy number gain
See cases
GPathogenic
LOC126653343, LOC126653344
+1160 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1160 more
Copy number gain
See cases
GUncertain significance
LINC00315, LINC00316
+1160 more
Copy number gain
See cases
GPathogenic
ATP5PF, ATP5PO
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653350, LOC126653351
+1159 more
Copy number gain
See cases
GPathogenic
LINC00111, LINC00112
+1160 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+643 more
Copy number loss
See cases
GPathogenic
TSPEAR-AS1, TSPEAR-AS2
+1160 more
Copy number gain
See cases
GPathogenic
LOC130066578, LOC130066579
+1159 more
Copy number gain
See cases
GPathogenic
LOC126653316, LOC126653317
+1157 more
Copy number gain
See cases
GPathogenic
LOC130066758, LOC130066759
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066717, LOC130066718
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1157 more
Copy number gain
See cases
GPathogenic
LOC125418051, LOC125418052
+1159 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+884 more
Copy number gain
See cases
GPathogenic
HSF2BP, HSPA13
+1159 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066756, LOC130066757
+1157 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
AATBC, ABCG1
+1155 more
Copy number gain
See cases
GPathogenic
KRTAP12-3, KRTAP12-4
+1157 more
Copy number gain
See cases
GPathogenic
LOC107403153, LOC107548109
+1155 more
Copy number gain
See cases
GPathogenic
SON, SPATC1L
+1159 more
Copy number gain
See cases
GPathogenic
LOC130066735, LOC130066736
+1156 more
Copy number loss
See cases
GPathogenic
LOC126653329, LOC130066449
+219 more
Copy number loss
Monosomy 21
GPathogenic
LOC112694734, LOC116309120
+118 more
Copy number gain
See cases
GPathogenic
ADAMTS1, ADAMTS5
+256 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+107 more
Copy number loss
See cases
GPathogenic
ADAMTS1, ADAMTS5
+214 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+129 more
Copy number gain
See cases
GPathogenic
C21orf91, LOC125387325
+209 more
Copy number loss
Monosomy 21
GPathogenic
ADAMTS1, ADAMTS5
+300 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+101 more
Copy number loss
See cases
GPathogenic
ASMER1, BTG3
+121 more
Copy number loss
See cases
GPathogenic
LOC130066445, LOC130066446
+102 more
Copy number loss
See cases
GPathogenic
BTG3, BTG3-AS1
+76 more
Copy number loss
See cases
GPathogenic
LOC130066465, LOC130066466
+46 more
Deletion
not provided
GUncertain significance
BTG3, BTG3-AS1
+64 more
Copy number gain
See cases
GUncertain significance
CHODL
Copy number gain
See cases
GBenign
CHODL
(L13Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHODL
(G16V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHODL
(A24T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHODL
(G83E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHODL
(P116L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHODL
(A153V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHODL
(N154S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHODL
(A169V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHODL
(I222L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHODL
(K228I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CHODL
(M230I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TFF2, UBE2G2
+216 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
not specified
GPathogenic
BTG3, C21orf91
+13 more
Copy number loss
not provided
GUncertain significance
CHODL, TMPRSS15
Copy number gain
not provided
GUncertain significance
ABCG1, ADAMTS1
+170 more
Copy number gain
not provided
GPathogenic
BTG3, C21orf91
+13 more
Copy number loss
not provided
GUncertain significance
CHODL, NCAM2
+1 more
Copy number loss
not provided
GUncertain significance
C21orf91, CHODL
Copy number gain
not provided
GUncertain significance
MIRLET7C, MRPL39
+23 more
Copy number gain
See cases
GPathogenic
DOP1B, DSCAM
+217 more
Copy number gain
Complete trisomy 21 syndrome
GPathogenic
BTG3, C21orf91
+2 more
Copy number loss
not specified
GUncertain significance
FAM3B, FTCD
+216 more
Copy number gain
not specified
GPathogenic
KRTAP13-1, KRTAP13-2
+216 more
Copy number gain
not specified
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Copy number gain
not specified
GPathogenic
APP, ATP5PF
+20 more
Copy number gain
not specified
GPathogenic
BTG3, C21orf91
+14 more
Copy number gain
not specified
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
ABCG1, ADAMTS1
+220 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
TMPRSS15, CHODL
Copy number gain
not provided
GUncertain significance
TMPRSS15, C21orf91
+1 more
Copy number gain
not provided
GUncertain significance
BTG3, CXADR
+2 more
Copy number gain
not provided
GUncertain significance
MIR99A, C21orf91
+6 more
Copy number gain
not provided
GUncertain significance
NCAM2, ADAMTS1
+23 more
Copy number loss
not provided
GPathogenic
BTG3, MIR125B2
+14 more
Copy number loss
not provided
GPathogenic
ABCG1, ADAMTS1
+217 more
Copy number gain
not provided
GPathogenic
ADAMTS1, ADAMTS5
+23 more
Duplication
Neurodevelopmental disorder
GLikely pathogenic
BAGE2, BAGE3
+17 more
Copy number gain
not provided
GPathogenic
MIR99A, CHODL
+14 more
Copy number loss
not provided
GPathogenic
TMPRSS15, CHODL
+1 more
Copy number gain
not provided
GUncertain significance
ABCG1, ADAMTS1
+217 more
Copy number gain
See cases
GPathogenic
BTG3, C21orf91
+8 more
Copy number gain
See cases
GUncertain significance
ADAMTS1, ADAMTS5
+23 more
Copy number loss
See cases
GPathogenic
BTG3, C21orf91
+14 more
Copy number gain
See cases
GUncertain significance
BTG3, C21orf91
+12 more
Copy number gain
See cases
GPathogenic
BTG3, C21orf58
+217 more
Copy number gain
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
See cases
GPathogenic
CHODL, TMPRSS15
Copy number gain
Abnormal esophagus morphology
GLikely benign
ADAMTS1, ADAMTS5
+23 more
Duplication
Alzheimer disease
+1 more
GPathogenic
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