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Items: 1 to 100 of 274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003132, LOC130003133
+1210 more
Copy number gain
See cases
GPathogenic
MED27, MIGA2
+789 more
Copy number gain
See cases
GPathogenic
ABL1, ABO
+536 more
Copy number gain
See cases
GPathogenic
LOC130003057, LOC130003058
+656 more
Copy number gain
See cases
GPathogenic
LOC124375238, LOC124375239
+569 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
GBGT1, GLT6D1
+552 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ABO
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130002921, LOC130002922
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC121366034, LOC121366035
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
SARDH, SEC16A
+568 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, ABO
+572 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003026, LOC130003027
+530 more
Copy number gain
See cases
GPathogenic
ABCA2, ABO
+510 more
Copy number gain
See cases
GPathogenic
LOC129390118, LOC130002920
+439 more
Copy number gain
See cases
GPathogenic
INPP5E, KCNT1
+417 more
Copy number gain
See cases
GPathogenic
LOC130003077, LOC130003078
+405 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+392 more
Copy number gain
See cases
GPathogenic
ABCA2, AGPAT2
+388 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
UAP1L1, UBAC1
+371 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+367 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC124375251, LOC126860788
+265 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+347 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
CAMSAP1, CARD9
+86 more
Copy number gain
See cases
GUncertain significance
UBAC1, ZMYND19
+346 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003123, LOC130003124
+345 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
EHMT1, ENTPD2
+347 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+344 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
ABCA2, AGPAT2
+311 more
Copy number loss
See cases
GPathogenic
QSOX2, RABL6
+324 more
Copy number gain
See cases
GLikely pathogenic
ABCA2, AGPAT2
+325 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003073, LOC130003074
+310 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC126860801, LOC129390118
+309 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
LOC130003044, LOC130003045
+309 more
Copy number loss
Kleefstra syndrome 1
GPathogenic
C9orf163, CARD9
+46 more
Copy number loss
See cases
GPathogenic
LOC130003070, LOC130003071
+283 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+284 more
Copy number loss
See cases
GPathogenic
ABCA2, AGPAT2
+283 more
Copy number loss
See cases
GPathogenic
C9orf163, ENTR1
+31 more
Copy number loss
See cases
GPathogenic
ENTR1, PMPCA
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ENTR1, PMPCA
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ENTR1, PMPCA
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
PMPCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PMPCA
(V4E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA
(L6V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(A7T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(A7E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PMPCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PMPCA
(S17A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(W18R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA, LOC130003010
(R22W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 2
GPathogenic
LOC130003010, PMPCA
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
LOC130003010, PMPCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PMPCA
Single nucleotide variant
(intron variant)
not provided
GBenign
PMPCA
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 2
+1 more
GBenign
PMPCA
(S34fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
PMPCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PMPCA
(I42F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(I42N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PMPCA
(S46A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PMPCA
(P49L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA
(P52S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(P54S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
PMPCA
(V55A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA
(T58I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(V59A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA
(K68R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PMPCA
(Q86H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PMPCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PMPCA
Single nucleotide variant
(intron variant)
not provided
GBenign
PMPCA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PMPCA
(S96L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 2
GPathogenic
PMPCA
(L105F)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PMPCA
(L6F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PMPCA
Single nucleotide variant
(intron variant)
not provided
GBenign
PMPCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PMPCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PMPCA
(A121S)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(G138C)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PMPCA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PMPCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PMPCA
(A155V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
PMPCA
(G59V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
PMPCA
(T62M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
PMPCA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PMPCA
(P74A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
(R175W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PMPCA
Single nucleotide variant
(intron variant)
not provided
GBenign
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