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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TANC2
(D54N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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
(S238R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
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
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(T578A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
LOC105371856, TANC2
(R879Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
LOC105371856, TANC2
(Q1054R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TANC2, LOC105371856
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
+1 more
GConflicting classifications of pathogenicity
TANC2
(R1373K +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(R1432Q +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(I1717M +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(G1718R +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(S1942F +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(V1949A +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(Q1957E +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
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