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Items: 1 to 100 of 2117

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ADD1, ADRA2C
+279 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+91 more
Copy number loss
See cases
GUncertain significance
ATP5ME, CPLX1
+124 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+426 more
Copy number loss
See cases
GPathogenic
LOC129992083, LOC129992084
+283 more
Copy number loss
See cases
GPathogenic
LOC129991961, LOC129991962
+283 more
Copy number gain
See cases
GPathogenic
ADD1, ATP5ME
+250 more
Copy number loss
See cases
GPathogenic
ATP5ME, BLOC1S4
+504 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+95 more
Copy number gain
See cases
GLikely pathogenic
ABLIM2, ACOX3
+1209 more
Copy number gain
See cases
GPathogenic
TRMT44, USP17L10
+633 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+504 more
Copy number loss
See cases
GPathogenic
LOC129992044, LOC129992045
+277 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+674 more
Copy number gain
See cases
GPathogenic
UVSSA, ZNF141
+90 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+277 more
Copy number gain
See cases
GPathogenic
LOC129992123, LOC129992124
+461 more
Copy number gain
See cases
GPathogenic
LOC129991962, LOC129991963
+137 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+597 more
Copy number loss
See cases
GPathogenic
CTBP1-AS, CTBP1-DT
+278 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+691 more
Copy number loss
See cases
GPathogenic
LOC129992180, LOC129992181
+597 more
Copy number loss
See cases
GPathogenic
LOC129991976, LOC129991977
+346 more
Copy number loss
See cases
GPathogenic
LOC129992081, LOC129992082
+479 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+127 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+134 more
Copy number loss
See cases
GPathogenic
ATP5ME, CFAP99
+175 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+95 more
Copy number loss
See cases
GUncertain significance
ABLIM2, ACOX3
+702 more
Copy number gain
See cases
GPathogenic
USP17L22, USP17L24
+569 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+58 more
Copy number loss
See cases
GUncertain significance
ABLIM2, ACOX3
+536 more
Copy number loss
See cases
GPathogenic
LOC129992015, LOC129992016
+274 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+290 more
Copy number loss
See cases
GPathogenic
ADD1, ATP5ME
+271 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+363 more
Copy number loss
See cases
GPathogenic
TACC3, TADA2B
+657 more
Copy number loss
See cases
GPathogenic
LOC129992040, LOC129992041
+313 more
Copy number loss
See cases
GPathogenic
LOC129992257, LOC129992258
+623 more
Copy number loss
See cases
GPathogenic
LOC129992063, LOC129992064
+323 more
Copy number loss
See cases
GPathogenic
LOC129992439, LOC129992440
+1039 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+327 more
Copy number gain
See cases
GPathogenic
LOC129992004, LOC129992005
+861 more
Copy number gain
See cases
GPathogenic
LOC129992063, LOC129992064
+322 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+278 more
Copy number gain
See cases
GPathogenic
RNF4, SCARNA22
+319 more
Copy number loss
See cases
GPathogenic
ADD1, ATP5ME
+249 more
Copy number loss
See cases
GPathogenic
LOC123466217, LOC123466218
+277 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+152 more
Copy number loss
See cases
GPathogenic
LOC129992188, LOC129992189
+832 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+438 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+90 more
Copy number gain
See cases
GUncertain significance
ATP5ME, CPLX1
+134 more
Copy number loss
See cases
GPathogenic
LOC129992143, LOC129992144
+618 more
Copy number gain
See cases
GPathogenic
LOC129992049, LOC129992050
+537 more
Copy number loss
See cases
GPathogenic
LOC129992097, LOC129992098
+256 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+127 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+124 more
Copy number loss
See cases
GPathogenic
LOC123477718, LOC123477719
+987 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+300 more
Copy number gain
See cases
GPathogenic
USP17L13, USP17L15
+716 more
Copy number gain
See cases
GPathogenic
ADD1, ADRA2C
+291 more
Copy number loss
See cases
GPathogenic
LOC129992176, LOC129992177
+439 more
Copy number loss
See cases
GPathogenic
LOC129992238, LOC129992239
+659 more
Copy number loss
See cases
GPathogenic
ADD1, ADRA2C
+414 more
Copy number loss
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABLIM2, ACOX3
+500 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+131 more
Copy number loss
See cases
GPathogenic
ATP5ME, CPLX1
+72 more
Copy number gain
See cases
GUncertain significance
ADD1, ATP5ME
+206 more
Copy number gain
See cases
GPathogenic
DGKQ, FGFRL1
+11 more
Copy number gain
See cases
GBenign/Likely benign
DGKQ, LOC129991972
+10 more
Copy number gain
See cases
GBenign
FGFRL1, IDUA
+7 more
Copy number gain
See cases
GBenign
FGFRL1, IDUA
+7 more
Copy number gain
See cases
GBenign/Likely benign
LOC129991970, SLC26A1
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
IDUA, SLC26A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDUA, SLC26A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDUA, SLC26A1
Single nucleotide variant
(genic upstream transcript variant +2 more)
Mucopolysaccharidosis, MPS-I-S
+3 more
GUncertain significance
IDUA, SLC26A1
(M1fs)
Deletion
(frameshift variant +3 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA, SLC26A1
Deletion
(inframe_deletion +3 more)
Mucopolysaccharidosis type 1
GPathogenic
IDUA, SLC26A1
Single nucleotide variant
(5 prime UTR variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA, SLC26A1
(M1V)
Single nucleotide variant
(missense variant +3 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA, SLC26A1
(M1L)
Single nucleotide variant
(missense variant +3 more)
Mucopolysaccharidosis type 1
+1 more
GPathogenic
IDUA, SLC26A1
(M1T)
Single nucleotide variant
(missense variant +3 more)
Mucopolysaccharidosis type 1
GPathogenic
SLC26A1, IDUA
(M1I)
Single nucleotide variant
(missense variant +3 more)
Hurler syndrome
+1 more
GLikely pathogenic
IDUA, SLC26A1
(R2P)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA, SLC26A1
(P3H)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
SLC26A1, IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA, SLC26A1
(L4P)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IDUA, SLC26A1
(R7fs)
Duplication
(frameshift variant +2 more)
Mucopolysaccharidosis type 1
GPathogenic
SLC26A1, IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
SLC26A1, IDUA
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA, SLC26A1
Single nucleotide variant
(synonymous variant +2 more)
Mucopolysaccharidosis type 1
GLikely benign
IDUA, SLC26A1
(A8S)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis type 1
GUncertain significance
IDUA, SLC26A1
(A9fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-I-H/S
GLikely pathogenic
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