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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
LOC130007275, LOC130007276
+97 more
Copy number loss
See cases
GPathogenic
ENO2
(R32Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(L49M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(R56C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(V85M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(N92S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
Single nucleotide variant
(intron variant)
not provided
GBenign
ENO2
(V118M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
Single nucleotide variant
(synonymous variant)
ENO2-related disorder
GLikely benign
ENO2
Single nucleotide variant
(synonymous variant)
ENO2-related disorder
GLikely benign
ENO2
(F178L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(M182T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(R183Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(H190R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(G201S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(N216S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(K239N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(R269Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(R269L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(A331T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2
(S373L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2, LOC130007287
(I393V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2, LOC130007287
(R400H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ENO2, LOC130007287
Duplication
(splice donor variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
A2ML1, ACRBP
+85 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
ATN1, C12orf57
+20 more
Copy number gain
not specified
GUncertain significance
ACRBP, ATN1
+40 more
Copy number gain
not specified
GUncertain significance
C3AR1, CACNA1C
+278 more
Copy number gain
not specified
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
A2ML1, ABCC9
+235 more
Copy number gain
not specified
GPathogenic
ACRBP, ACSM4
+64 more
Duplication
not provided
GUncertain significance
ACRBP, ACSM4
+57 more
Duplication
Temtamy syndrome
GUncertain significance
C12orf57, ATN1
+40 more
Duplication
Peroxisome biogenesis disorder 2B
GUncertain significance
CLEC4A, LRRC23
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
CRACR2A, ERC1
+93 more
Copy number gain
not provided
GPathogenic
ACRBP, ATN1
+43 more
Duplication
Temtamy syndrome
GUncertain significance
C1RL, C1S
+44 more
Duplication
Klippel-Feil syndrome 3, autosomal dominant
GUncertain significance
ACRBP, ATN1
+43 more
Duplication
Peroxisome biogenesis disorder 2B
GUncertain significance
ACSM4, APOBEC1
+34 more
Duplication
Temtamy syndrome
GUncertain significance
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+107 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+102 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+193 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+101 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+166 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
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