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Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TANC2
(R1657Q +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(Q608fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GLikely pathogenic
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
(L1934P +2 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
(S122* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GLikely pathogenic
LOC105371856, TANC2
(Q1054R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
+1 more
GUncertain significance
TANC2
(V1407I +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
MARCHF10, MRC2
+1 more
Copy number loss
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
Insertion
(splice donor variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(Y1554H +2 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
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
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
(T578A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
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
Single nucleotide variant
(intron 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
(S238R +1 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
(G1718R +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
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
(R1373K +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
LOC105371856, TANC2
(S826R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(V1778E +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2, LOC105371856
(L1087V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TANC2
(D54N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TANC2
(Q1541fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
Gnot provided
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
(R1781H +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(Q1400H +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
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
(G1666del +1 more)
Deletion
(inframe_deletion)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
LOC105371856, TANC2
(S849P +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(S1756N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
Deletion
(intron variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
Single nucleotide variant
(3 prime UTR variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(I77fs)
Duplication
(frameshift variant +1 more)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
LOC105371856, TANC2
(K1061N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(P1811T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TANC2
(I541T +1 more)
Single nucleotide variant
(missense variant)
TANC2-related condition
+1 more
GUncertain significance
TANC2
(C1687F +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
LOC105371856, TANC2
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
(P317S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TANC2
(R1700* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GLikely pathogenic
LOC105371856, TANC2
(Y878* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GPathogenic
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
(I558V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
TANC2
(R760C +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with autistic features and language delay, with or without seizures
+1 more
GUncertain significance
TANC2
Copy number loss
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
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