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Items: 1 to 100 of 376

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+1753 more
Copy number gain
See cases
GPathogenic
BRIP1, EFCAB3
+39 more
Copy number loss
See cases
GLikely pathogenic
TANC2
(L10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(K18R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TANC2
Single nucleotide variant
(intron variant)
not provided
GBenign
TANC2
(S26N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TANC2
(P29A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(D31fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TANC2
(R32G)
Single nucleotide variant
(missense variant)
TANC2-related condition
GUncertain significance
TANC2
(R32*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TANC2
(R33T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(Q34R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(R40C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TANC2
(R43H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(G48D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(I49T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(S53N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(D54N)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
+2 more
GUncertain significance
TANC2
(C55R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(D60N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(D60E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(A62T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(L66P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TANC2
(V68L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(S69N)
Single nucleotide variant
(missense variant)
TANC2-related condition
GLikely benign
TANC2
(S69T)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TANC2
(I77fs)
Duplication
(frameshift variant +1 more)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TANC2
Deletion
(intron variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(Q106E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(D109N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(Q116R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(S122* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GLikely pathogenic
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TANC2
(R127W +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(I128V +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(P151L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(I153S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
TANC2
(A166S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TANC2
Single nucleotide variant
(splice donor variant)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES
+1 more
GPathogenic/Likely pathogenic
TANC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TANC2
(T184A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(R194C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TANC2
(S201N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(W214* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TANC2
Single nucleotide variant
(synonymous variant)
TANC2-related condition
GBenign
TANC2
(S220I +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(M295I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(C298S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(T310S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(S238R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(E244K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(E244D +1 more)
Single nucleotide variant
(missense variant)
TANC2-related condition
GUncertain significance
TANC2
(S252P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
TANC2-related condition
GLikely benign
TANC2
(I258V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(Y261C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(M263L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
Microsatellite
(intron variant)
not provided
GBenign
TANC2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TANC2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
TANC2
(S347G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(S274T +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(L280fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GPathogenic
TANC2
(Q286R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(M297V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(S301fs +1 more)
Microsatellite
(frameshift variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GLikely pathogenic
TANC2
(S301R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(R380H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(P317S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(S334R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(T336I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(H349L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(A353V +1 more)
Single nucleotide variant
(missense variant)
TANC2-related condition
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
TANC2-related condition
GLikely benign
TANC2
(V384M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
TANC2-related condition
+1 more
GLikely benign
TANC2
(P479S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
Single nucleotide variant
(splice donor variant)
Autism spectrum disorder
+2 more
GPathogenic/Likely pathogenic
TANC2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TANC2
(P494L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TANC2
(I426V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TANC2
(R438C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(R440W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(A444S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(A444V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(M445T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
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