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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806176, LOC126806177
+1047 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABHD1, ADCY3
+321 more
Copy number loss
See cases
GPathogenic
LOC129933291, LOC129933292
+142 more
Copy number loss
See cases
GUncertain significance
ABHD1, ADGRF3
+99 more
Copy number gain
See cases
GUncertain significance
ADGRF3, DRC1
+4 more
Copy number loss
See cases
GPathogenic
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
(S21N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SELENOI
(N26S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
(P45L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
(R112P)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
(P211S)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 81, autosomal recessive
GUncertain significance
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia 81, autosomal recessive
GPathogenic
SELENOI
(T274A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
(R316W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SELENOI
(V331I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SELENOI
(V338A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SELENOI
Single nucleotide variant
(intron variant)
not provided
GBenign
SELENOI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ADGRF3, DRC1
+4 more
Duplication
not provided
GUncertain significance
ZNF513, SLC5A6
+65 more
Duplication
not provided
GUncertain significance
SLC4A1AP, OTOF
+72 more
Duplication
not provided
GUncertain significance
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
CENPA, CIB4
+9 more
Copy number gain
not specified
GUncertain significance
OTOF, OXER1
+131 more
Copy number gain
See cases
GPathogenic
UCN, ZFP36L2
+131 more
Copy number gain
not provided
GLikely pathogenic
ABCG5, ABCG8
+182 more
Copy number gain
not provided
GPathogenic
ZEB2, ZFAND2B
+1216 more
Copy number gain
not provided
GPathogenic
AAK1, AAMP
+1216 more
Copy number gain
not provided
GPathogenic
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
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