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Items: 1 to 100 of 335

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
LOC129932493, LOC129932494
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932930, LOC129932931
+967 more
Copy number gain
See cases
GPathogenic
LOC129932702, LOC129932703
+954 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+954 more
Copy number gain
See cases
GPathogenic
LOC129932675, LOC129932676
+952 more
Copy number gain
See cases
GPathogenic
ADSS2, AGT
+951 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+949 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+869 more
Copy number gain
See cases
GPathogenic
OR2T27, OR2T29
+655 more
Copy number gain
See cases
GPathogenic
LOC126806063, LOC126806064
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC120947224, LOC121725076
+270 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ACTN2, ADSS2
+301 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+282 more
Copy number loss
See cases
GPathogenic
AKT3, AKT3-IT1
+55 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+279 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+278 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+277 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+274 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
LOC128598893, LOC128598894
+273 more
Copy number gain
See cases
GPathogenic
LOC122152349, LOC122152350
+272 more
Copy number loss
See cases
GPathogenic
OR11L1, OR13G1
+264 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+183 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+87 more
Copy number gain
See cases
GPathogenic
ADSS2, AKT3
+87 more
Copy number loss
See cases
GPathogenic
LOC129932970, LOC129932971
+253 more
Copy number loss
See cases
GPathogenic
ADSS2, AKT3
+76 more
Copy number gain
See cases
GLikely pathogenic
ADSS2, AHCTF1
+243 more
Copy number loss
See cases
GPathogenic
AKT3, AKT3-IT1
+33 more
Deletion
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
ADSS2, AKT3
+73 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+70 more
Copy number loss
See cases
GPathogenic
LOC122152353, PLD5
+15 more
Deletion
Senior-Loken syndrome 7
+1 more
GPathogenic
ADSS2, AKT3
+73 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+118 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+65 more
Copy number gain
See cases
GUncertain significance
ADSS2, AHCTF1
+237 more
Copy number gain
See cases
GPathogenic
LOC122152355, LOC122152356
+230 more
Copy number gain
See cases
GPathogenic
ADSS2, AKT3
+27 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+235 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AKT3
+66 more
Copy number loss
See cases
GPathogenic
AKT3, CEP170
+6 more
Copy number loss
See cases
GUncertain significance
ADSS2, AKT3
+36 more
Copy number loss
See cases
GPathogenic
AKT3, LOC110120698
+7 more
Copy number loss
See cases
GUncertain significance
AKT3, LOC122152351
+6 more
Copy number loss
See cases
GUncertain significance
AKT3, LOC122152351
+5 more
Copy number loss
See cases
GUncertain significance
AKT3, AKT3-IT1
+9 more
Copy number gain
See cases
GUncertain significance
AKT3, LOC110120698
+4 more
Copy number loss
See cases
GUncertain significance
AKT3, LOC110120698
+4 more
Copy number loss
See cases
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8, AKT3
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
AKT3, SDCCAG8
Duplication
(inframe_insertion +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
(A706V +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
(Q375E +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
(L379V +3 more)
Single nucleotide variant
(intron variant +1 more)
Inborn genetic diseases
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AKT3, SDCCAG8
(N587Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GConflicting classifications of pathogenicity
AKT3, SDCCAG8
(R390fs +3 more)
Microsatellite
(frameshift variant +1 more)
not specified
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
(S392N +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
(E599D +3 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
(R399W +3 more)
Single nucleotide variant
(missense variant +1 more)
SDCCAG8-related condition
+2 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(synonymous variant +1 more)
SDCCAG8-related condition
GUncertain significance
AKT3, SDCCAG8
(R401W +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
(R734Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
(T703I +3 more)
Single nucleotide variant
(missense variant +1 more)
SDCCAG8-related condition
+2 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(splice donor variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT3, SDCCAG8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AKT3, SDCCAG8
Duplication
(intron variant)
not provided
GBenign
AKT3, SDCCAG8
(K465fs)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 16
+1 more
GBenign
AKT3, SDCCAG8
(N462K)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
(M610V +4 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
(M407I +3 more)
Single nucleotide variant
(synonymous variant +2 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
AKT3, SDCCAG8
Duplication
(inframe_insertion +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
AKT3, SDCCAG8
(C412fs +3 more)
Indel
(3 prime UTR variant +2 more)
not specified
GUncertain significance
AKT3, SDCCAG8
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
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