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Items: 1 to 100 of 497

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058727, LOC130058728
+287 more
Copy number gain
See cases
GPathogenic
OTOA, PALB2
+280 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+233 more
Copy number gain
See cases
GLikely pathogenic
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
LOC130058732, LOC130058733
+504 more
Copy number gain
See cases
GPathogenic
ZNF747, ZNF747-DT
+378 more
Copy number gain
See cases
GPathogenic
APOBR, ATP2A1
+78 more
Copy number gain
See cases
GUncertain significance
APOBR, ATP2A1
+72 more
Copy number gain
See cases
GUncertain significance
ATP2A1, APOBR
+70 more
Copy number loss
See cases
GPathogenic
APOBR, ATP2A1
+68 more
Deletion
Schizophrenia
GPathogenic
LOC125146439, LOC125146440
+179 more
Copy number gain
See cases
GPathogenic
APOBR, ATP2A1
+61 more
Copy number gain
See cases
GUncertain significance
APOBR, ATP2A1
+61 more
Copy number loss
See cases
GPathogenic
ALDOA, APOBR
+187 more
Copy number loss
See cases
GPathogenic
APOBR, ATP2A1
+66 more
Copy number loss
See cases
GPathogenic
APOBR, ATP2A1
+67 more
Copy number loss
See cases
GPathogenic
ALDOA, APOBR
+180 more
Copy number loss
See cases
GPathogenic
ALDOA, APOBR
+186 more
Copy number loss
See cases
GPathogenic
APOBR, ATP2A1
+61 more
Copy number gain
See cases
GUncertain significance
APOBR, ATP2A1
+57 more
Copy number gain
See cases
GUncertain significance
ALDOA, APOBR
+171 more
Copy number gain
See cases
GPathogenic
LOC130058739, LOC130058740
+57 more
Copy number loss
See cases
GLikely pathogenic
APOBR, ATP2A1
+62 more
Copy number gain
See cases
GUncertain significance
ALDOA, APOBR
+171 more
Copy number loss
See cases
GPathogenic
LOC130058756, LOC130058757
+170 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+48 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+44 more
Copy number gain
See cases
Gconflicting data from submitters
ATP2A1, ATP2A1-AS1
+45 more
Copy number gain
See cases
GUncertain significance
ATP2A1, ATP2A1-AS1
+45 more
Copy number gain
See cases
GUncertain significance
ATP2A1, ATP2A1-AS1
+43 more
Copy number gain
See cases
GUncertain significance
ATP2A1, ATP2A1-AS1
+41 more
Copy number gain
See cases
GUncertain significance
LAT, LOC112340393
+44 more
Deletion
Distal 16p11.2 microdeletion syndrome
GPathogenic
ATP2A1, ATP2A1-AS1
+37 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+37 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+36 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+36 more
Copy number gain
See cases
GUncertain significance
ATP2A1, ATP2A1-AS1
+37 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+34 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+34 more
Copy number loss
See cases
GPathogenic
LOC130058735, ATP2A1
+34 more
Duplication
not provided
GUncertain significance
ATP2A1, ATP2A1-AS1
+34 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+34 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+36 more
Copy number loss
See cases
GLikely pathogenic
ATP2A1, ATP2A1-AS1
+34 more
Copy number gain
See cases
Gconflicting data from submitters
ATP2A1, ATP2A1-AS1
+28 more
Copy number gain
See cases
GUncertain significance
NFATC2IP-AS1, RABEP2
+36 more
Copy number gain
not provided
Gnot provided
ATP2A1, ATP2A1-AS1
+32 more
Copy number loss
Autism spectrum disorder
GPathogenic
ATP2A1, ATP2A1-AS1
+33 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+32 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+32 more
Copy number gain
See cases
GUncertain significance
ATP2A1, ATP2A1-AS1
+31 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+31 more
Copy number gain
See cases
GUncertain significance
ATP2A1, ATP2A1-AS1
+29 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+28 more
Copy number loss
See cases
GPathogenic
ATP2A1, ATP2A1-AS1
+28 more
Copy number gain
See cases
GUncertain significance
CD19
Single nucleotide variant
(5 prime UTR variant +1 more)
Immunodeficiency, common variable, 3
GUncertain significance
CD19
(R5C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CD19
(R5H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CD19
(L6R)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency, common variable, 3
GUncertain significance
CD19
(F8L)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency, common variable, 3
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CD19
(L11F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD19
(M16T)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 3
GLikely benign
CD19
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD19
(E21Q)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 3
+1 more
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CD19
(E29Q)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency, common variable, 3
GUncertain significance
CD19
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD19
Duplication
(intron variant)
not provided
GLikely benign
CD19
(D32N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
(V35M)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
(K40R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
(S43*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
CD19
(D44Y)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CD19
(T47I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CD19
(T47N)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 3
+1 more
GConflicting classifications of pathogenicity
CD19
(W52C)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency, common variable, 3
GPathogenic
CD19
(R54W)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
(P57L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CD19
(P60S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD19
(P60R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
(L64F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
(S65N)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CD19
(G70D)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
(R76S)
Single nucleotide variant
(missense variant +2 more)
Immunodeficiency, common variable, 3
+1 more
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
(L78P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CD19
(I80T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant)
Immunodeficiency, common variable, 3
GUncertain significance
CD19
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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