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Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(L9W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TTC12
Duplication
(intron variant)
not provided
GBenign
TTC12
Deletion
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
TTC12-related condition
GLikely benign
TTC12
(D29H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(L45R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(M48V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(N37S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(M48L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
TTC12
Deletion
(intron variant)
not provided
GBenign
TTC12
(R70* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(K85R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Deletion
(nonsense +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TTC12
(M285K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(N287D +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TTC12
(S326G +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126861342, TTC12
(R334C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126861342, TTC12
(R339H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126861342, TTC12
(A347T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LOC126861342, TTC12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TTC12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TTC12
(A387T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(L425I +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(L407P +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(E461K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(C446R +3 more)
Single nucleotide variant
(missense variant +1 more)
TTC12-related condition
GUncertain significance
TTC12
Single nucleotide variant
(splice donor variant)
TTC12-related condition
GLikely benign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(R498G +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
Microsatellite
(intron variant)
not provided
GBenign
TTC12
Microsatellite
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(R560* +3 more)
Single nucleotide variant
(nonsense +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
(G562R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(M567R +3 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
Single nucleotide variant
(synonymous variant +1 more)
TTC12-related condition
GLikely benign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(Y581C +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
(synonymous variant +1 more)
TTC12-related condition
+1 more
GLikely benign
TTC12
(R597P +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(E604K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
(I576V +3 more)
Single nucleotide variant
(missense variant +1 more)
TTC12-related condition
GLikely benign
TTC12
(K580E +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
(T645M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TTC12
(T665A +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TTC12
(A668T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TTC12
Single nucleotide variant
(intron variant)
not provided
GBenign
TTC12
Single nucleotide variant
(synonymous variant +1 more)
TTC12-related condition
GLikely benign
TTC12
(S678R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TTC12
Single nucleotide variant
not provided
GBenign
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ALG9, ANKK1
+50 more
Copy number loss
not provided
GPathogenic
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
PCSK7, PGR
+183 more
Copy number loss
not provided
GUncertain significance
APOA1, APOA4
+904 more
Deletion
Intellectual disability
GPathogenic
AASDHPPT, ABCG4
+259 more
Duplication
Distal trisomy 11q
GPathogenic
AASDHPPT, ACAT1
+68 more
Copy number loss
not provided
GPathogenic
AASDHPPT, ACAT1
+76 more
Copy number loss
not provided
GPathogenic
ALG9, ANKK1
+45 more
Copy number loss
not provided
GUncertain significance
AASDHPPT, ACAT1
+80 more
Copy number loss
not provided
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
EMSY, ENDOD1
+1289 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
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