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Items: 1 to 100 of 206

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL23, KLHL41
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
PDE11A
Microsatellite
(inframe_insertion)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GBenign
PDE11A
(S475L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(A665P +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PDE11A
(H465Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(P449L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(P449Q +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(V441M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
(A439T +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
+1 more
GLikely benign
PDE11A
(L522F +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDE11A
(M628V +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PDE11A
(I515T +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(E427Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDE11A
(R423W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(R423G +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDE11A
(R501Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
(R486P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(F838S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A, PDE11A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDE11A, PDE11A-AS1
(P465fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(M368I +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely benign
PDE11A, PDE11A-AS1
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A, PDE11A-AS1
(R364* +3 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A, PDE11A-AS1
(F344S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(T427I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A, PDE11A-AS1
Copy number gain
See cases
GLikely benign
PDE11A, PDE11A-AS1
Copy number gain
See cases
GUncertain significance
PDE11A, PDE11A-AS1
Copy number gain
See cases
GUncertain significance
PDE11A, PDE11A-AS1
Copy number gain
See cases
GUncertain significance
PDE11A, PDE11A-AS1
(L335P +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A-AS1, PDE11A
(T334M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A, PDE11A-AS1
(Q520* +3 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(L320F +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A, PDE11A-AS1
(S313fs +3 more)
Deletion
(frameshift variant)
Pigmented nodular adrenocortical disease, primary, 2
GPathogenic/Likely pathogenic
PDE11A, PDE11A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDE11A, PDE11A-AS1
(I300S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PDE11A, PDE11A-AS1
(A297T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A-AS1, PDE11A
(C451R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A-AS1, PDE11A
(V341A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A, PDE11A-AS1
(V255E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A, PDE11A-AS1
(T238A +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
Single nucleotide variant
(intron variant)
not provided
GBenign
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDE11A
(A419T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDE11A
(L218V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A
(R215Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(Y300C +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(T202fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDE11A
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PDE11A
(Q194fs +3 more)
Indel
(frameshift variant)
Pigmented nodular adrenocortical disease, primary, 2
GLikely pathogenic
PDE11A
(M188V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(I180F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(M265V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(V262I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A
(D251N +3 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PDE11A
(S160* +3 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GPathogenic/Likely pathogenic
PDE11A
(V148I +3 more)
Single nucleotide variant
(missense variant)
Pigmented nodular adrenocortical disease, primary, 2
GUncertain significance
PDE11A
(T142I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
(S126P +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PDE11A
(C304fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE11A
(I194T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDE11A
Single nucleotide variant
(synonymous variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
(A292V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(Q171* +3 more)
Single nucleotide variant
(nonsense)
Pigmented nodular adrenocortical disease, primary, 2
GLikely pathogenic
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
Single nucleotide variant
(intron variant)
not provided
GBenign
PDE11A
Single nucleotide variant
(intron variant)
Pigmented nodular adrenocortical disease, primary, 2
GBenign
PDE11A
(S520N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
(R152T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935258, LOC129935259
+312 more
Copy number loss
See cases
GPathogenic
LOC112806062, LOC132088804
+1 more
Copy number loss
See cases
GLikely pathogenic
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PDE11A
(A122P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDE11A
(Y216C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC112806062, PDE11A
Copy number loss
See cases
GUncertain significance
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
PDE11A
(A203P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDE11A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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