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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005128, LOC130005129
+723 more
Copy number gain
See cases
GPathogenic
LOC106799843, LOC106865369
+388 more
Copy number gain
See cases
GPathogenic
LOC106783508, LOC106799843
+271 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
BGLT3, A-GAMMA3'E
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
KRTAP5-6, KRTAP5-AS1
+129 more
Copy number loss
See cases
GPathogenic
ASCL2, C11orf21
+115 more
Copy number gain
See cases
GPathogenic
ASCL2, C11orf21
+83 more
Copy number loss
See cases
GUncertain significance
SLC22A18, SLC22A18AS
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GBenign
SLC22A18AS, SLC22A18
(G96S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18, SLC22A18AS
(M17I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18, SLC22A18AS
(R22Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC22A18
(R137Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(L139P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(R86H +1 more)
Single nucleotide variant
(missense variant +1 more)
Rhabdomyosarcoma, somatic
GPathogenic
SLC22A18
(R174P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(A176S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(A184T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(L102V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(H131Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
Deletion
(intron variant)
not provided
GBenign
SLC22A18
(M223I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(D142G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC22A18
(R155Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(G246R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC22A18
(A89V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(I287V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(A298T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SLC22A18
(P118A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SLC22A18
(V225G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(A134T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SLC22A18
(S233F +2 more)
Single nucleotide variant
(missense variant)
Lung carcinoma
GPathogenic
SLC22A18
(L137P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(V325F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(D169V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(L173P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
Single nucleotide variant
(intron variant)
Lung adenocarcinoma
GUncertain significance
SLC22A18
(S213T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(V318L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(V230I +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC22A18
(S260P +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC22A18
(V285I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
(V297I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SLC22A18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC22A18
(V484L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC22A18
(P502L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC22A18
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC22A18
(D323N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ANO9, AP2A2
+89 more
Copy number gain
not provided
GPathogenic
C11orf42, MRGPRG
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
AP2A2, ART1
+65 more
Duplication
not provided
GUncertain significance
OR10A6, RRM1
+205 more
Copy number gain
not provided
GPathogenic
ABCC8, ADM
+308 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+137 more
Copy number gain
not provided
Gnot provided
PTDSS2, RASSF7
+89 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
ANO9, AP2A2
+109 more
Copy number gain
See cases
GPathogenic
IFITM3, OR52D1
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CARS1, CDKN1C
+8 more
Copy number gain
not provided
GUncertain significance
ABCC8, ADM
+343 more
Copy number gain
not provided
GPathogenic
ADM, AKIP1
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CHORDC1, CHRDL2
+1293 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1292 more
Copy number gain
not provided
GPathogenic
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
OR2AG2, OR2D2
+222 more
Copy number gain
not provided
GPathogenic
ABCC8, ADM
+327 more
Copy number gain
See cases
GPathogenic
EMSY, ENDOD1
+1289 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
ABCC8, ADM
+305 more
Copy number gain
See cases
GPathogenic
ABCC8, ABTB2
+364 more
Copy number gain
See cases
GPathogenic
ART1, ART5
+132 more
Copy number gain
See cases
GPathogenic
SLC22A18
Insertion
Breast adenocarcinoma
GPathogenic
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