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Links from Gene

Items: 1 to 100 of 272

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNND1, TMX2-CTNND1
(L565del +5 more)
Microsatellite
(non-coding transcript variant)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(Y201F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
Single nucleotide variant
(splice donor variant)
Blepharocheilodontic syndrome 2
GPathogenic
CTNND1, TMX2-CTNND1
Deletion
(non-coding transcript variant)
not provided
GUncertain significance
TMX2-CTNND1, CTNND1
(S577L +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(R277C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +2 more)
TMX2-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Deletion
(intron variant)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
(E711* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely pathogenic
CTNND1, TMX2-CTNND1
(T674I +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GUncertain significance
CTNND1, TMX2-CTNND1
(Q467* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GPathogenic
CTNND1, TMX2-CTNND1
(Y201fs +2 more)
Deletion
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely pathogenic
CTNND1, TMX2-CTNND1
(S777F +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GUncertain significance
CTNND1, TMX2-CTNND1
(I346T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(L171P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(D28V +1 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
(T189A +6 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(V204I +6 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(T176M +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(K399Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(P109T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(V180M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(M245I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(A455S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(R363H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BTBD18, TMX2-CTNND1
(P450L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(E77Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(R65W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(S513F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(P619H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(R295W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(K378R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BTBD18, TMX2-CTNND1
(R15Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTNND1, TMX2-CTNND1
Single nucleotide variant
(splice donor variant)
Blepharocheilodontic syndrome 2
GPathogenic
CTNND1, TMX2-CTNND1
(S529F +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Blepharocheilodontic syndrome 2
GUncertain significance
CTNND1, TMX2-CTNND1
(I595F +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(S251G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMX2, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TMX2, TMX2-CTNND1
(N156fs +6 more)
Deletion
(frameshift variant +2 more)
not specified
GUncertain significance
TMX2, TMX2-CTNND1
(K199R +6 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(A22V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(R17P +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(S4N +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(P43L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(L4S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
SELENOH, TMX2-CTNND1
(G5W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SELENOH, TMX2-CTNND1
(T42P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(R295Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(A291T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BTBD18, TMX2-CTNND1
(K132R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(V100L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(G71S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(V693A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(G521R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(I429V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(M422T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTBD18, TMX2-CTNND1
(G398R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTNND1, TMX2-CTNND1
(S266G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(R252C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(A196V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(R148Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(R82P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(D80G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(G162R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(T98A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(T39M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(A10V)
Single nucleotide variant
(non-coding transcript variant +3 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(N890D +5 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(R778W +5 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(R729W +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(I681V +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(S8A)
Single nucleotide variant
(non-coding transcript variant +3 more)
Inborn genetic diseases
GUncertain significance
TMX2-CTNND1, CTNND1
(I698V +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2-CTNND1, CTNND1
(A613V +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2-CTNND1, CTNND1
(G13D +1 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(Y596C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(D636E +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CTNND1, TMX2-CTNND1
(E322D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(A109T +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GUncertain significance
CTNND1, TMX2-CTNND1
Duplication
(intron variant)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +3 more)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
(T113P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely benign
TMX2, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +2 more)
TMX2-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
(I108F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
(R186H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(intron variant)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(splice donor variant)
CTNND1-related disorder
GUncertain significance
CTNND1, TMX2-CTNND1
(R618W +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GBenign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(intron variant)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely benign
CTNND1, TMX2-CTNND1
(E266fs +2 more)
Duplication
(non-coding transcript variant +1 more)
CTNND1-related disorder
GLikely pathogenic
TMX2, TMX2-CTNND1
Single nucleotide variant
(intron variant)
TMX2-related disorder
GLikely benign
TMX2, TMX2-CTNND1
(D62fs)
Deletion
(non-coding transcript variant +3 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GLikely pathogenic
TMX2-CTNND1, CTNND1
(V141I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(P259L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
(M188V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CTNND1, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
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