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Links from Gene

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMX2, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +2 more)
TMX2-related disorder
GLikely benign
APLNR, BTBD18
+20 more
Copy number gain
Pontocerebellar hypoplasia type 10
GLikely pathogenic
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
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
TMX2, TMX2-CTNND1
(A109T +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
BTBD18, CLP1
+19 more
Copy number gain
not specified
GUncertain significance
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
TMX2, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +2 more)
TMX2-related disorder
GLikely benign
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, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TMX2, TMX2-CTNND1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TMX2-CTNND1, TMX2
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
TMX2, TMX2-CTNND1
(G48R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
TMX2-CTNND1, TMX2
(N179S +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TMX2, TMX2-CTNND1
(F36S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GUncertain significance
TMX2, TMX2-CTNND1
(E189* +6 more)
Single nucleotide variant
(nonsense +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(P118S +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(M125I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
(V148fs +6 more)
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
TMX2-CTNND1, TMX2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
(D115Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(M112V +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(Y26C)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GLikely benign
TMX2, TMX2-CTNND1
(G188A +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(V62F +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TMX2, TMX2-CTNND1
(E148V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACP2, ACCS
+216 more
Copy number gain
See cases
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
TMX2, TMX2-CTNND1
(L27F)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
+1 more
GUncertain significance
BTBD18, CLP1
+19 more
Copy number gain
not provided
Gnot provided
TMX2, TMX2-CTNND1
(D60E)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
(R114W +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TMX2, TMX2-CTNND1
(L103fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BTBD18, CTNND1
+3 more
Deletion
not provided
GPathogenic
TMX2, TMX2-CTNND1
(L32R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
TMX2, TMX2-CTNND1
(R111* +6 more)
Single nucleotide variant
(missense variant +3 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GLikely pathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
TMX2, TMX2-CTNND1
(G56R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GPathogenic
TMX2-CTNND1, TMX2
Deletion
(splice donor variant +1 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GPathogenic
TMX2, TMX2-CTNND1
(R53C)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GPathogenic
TMX2, TMX2-CTNND1
(R205Q +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TMX2-CTNND1, TMX2
(R253* +6 more)
Single nucleotide variant
(nonsense +2 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GPathogenic
TMX2-CTNND1, TMX2
(L103fs +4 more)
Duplication
(frameshift variant +1 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GPathogenic
TMX2-CTNND1, TMX2
(D55A)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
GPathogenic
TMX2, TMX2-CTNND1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
APLNR, BTBD18
+67 more
Duplication
not provided
Gnot provided
APLNR, BTBD18
+95 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
Abnormality of neuronal migration
GUncertain significance
TMX2, TMX2-CTNND1
(D109G +2 more)
Single nucleotide variant
(missense variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
TMX2, TMX2-CTNND1
(R231W +7 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
APLNR, BTBD18
+147 more
Copy number gain
See cases
GPathogenic
LOC130005708, LOC130005709
+48 more
Copy number gain
See cases
GUncertain significance
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