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Items: 1 to 100 of 712

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
ABCB10, ACBD3
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
LOC129932646, LOC129932647
+967 more
Copy number gain
See cases
GPathogenic
LOC129932948, LOC129932949
+954 more
Copy number gain
See cases
GPathogenic
LOC129932666, LOC129932667
+954 more
Copy number gain
See cases
GPathogenic
LOC128772241, LOC128772242
+952 more
Copy number gain
See cases
GPathogenic
SCCPDH, SDCCAG8
+951 more
Copy number gain
See cases
GPathogenic
LOC129932613, LOC129932614
+949 more
Copy number gain
See cases
GPathogenic
LOC129932859, LOC129932860
+869 more
Copy number gain
See cases
GPathogenic
LOC129932775, LOC129932776
+655 more
Copy number gain
See cases
GPathogenic
ACTN2, AGT
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
LOC129932908, LOC129932909
+270 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
LOC110121264, LOC110121265
+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
OR2G3, OR2G6
+276 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+276 more
Copy number loss
See cases
GPathogenic
SNORA100, SPMIP3
+274 more
Copy number loss
Intellectual disability, autosomal dominant 22
GPathogenic
ADSS2, AHCTF1
+273 more
Copy number gain
See cases
GPathogenic
ADSS2, AHCTF1
+272 more
Copy number loss
See cases
GPathogenic
ADSS2, AHCTF1
+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
LOC129932958, LOC129932959
+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
ADSS2, AHCTF1
+230 more
Copy number gain
See cases
GPathogenic
LOC112577566, LOC122152351
+27 more
Copy number loss
See cases
GPathogenic
CEP170, LOC122152351
+4 more
Copy number loss
See cases
GUncertain significance
LINC01743, LINC02774
+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
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(S4C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(P5L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
SDCCAG8-related disorder
+2 more
GLikely benign
SDCCAG8
(E6Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(S8P)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(E11Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(I13F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(G15R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(Q16*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GPathogenic
SDCCAG8
(Q16R)
Single nucleotide variant
(5 prime UTR variant +1 more)
SDCCAG8-related disorder
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(Q16H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Duplication
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
(R22W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SDCCAG8
Duplication
(splice donor variant)
SDCCAG8-related disorder
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
SDCCAG8-related disorder
+2 more
GConflicting classifications of pathogenicity
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Microsatellite
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
not provided
GBenign
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
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 16
+1 more
GLikely benign
SDCCAG8
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(E23G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
(H24R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
(S26G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 16
+1 more
GUncertain significance
SDCCAG8
(S28fs)
Deletion
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GPathogenic
SDCCAG8
(S28N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign/Likely benign
SDCCAG8
(A35fs)
Deletion
(5 prime UTR variant +1 more)
SDCCAG8-related disorder
+3 more
GConflicting classifications of pathogenicity
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GLikely benign
SDCCAG8
(A35S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
(G39S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
SDCCAG8
Single nucleotide variant
(5 prime UTR variant +1 more)
Senior-Loken syndrome 7
+1 more
GUncertain significance
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