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Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
BAZ2B, BAZ2B-AS1
+197 more
Copy number loss
See cases
GPathogenic
TANK-AS1, TBR1
+58 more
Copy number loss
See cases
GLikely pathogenic
SLC4A10
(I3V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(Q6*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
SLC4A10
(S23A)
Single nucleotide variant
(missense variant +2 more)
SLC4A10-related disorder
GBenign
SLC4A10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC4A10
(K46Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(splice donor variant)
SLC4A10-related disorder
GUncertain significance
SLC4A10
(G69R +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(S72T +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(R76H +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(K71E +2 more)
Single nucleotide variant
(missense variant +2 more)
SLC4A10-related disorder
GUncertain significance
SLC4A10
(D91N +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(L103F +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(H112R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(I113V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC4A10
(P114H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC4A10
Deletion
(intron variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
GPathogenic
SLC4A10
(S106I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC4A10
(T178S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC4A10
(R17C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(E215G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(A227T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(Q232* +4 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SLC4A10
(H174Y +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
GPathogenic
SLC4A10
(K179* +4 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SLC4A10
(A277P +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(P266S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
SLC4A10
(Q291L +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC4A10-related disorder
GLikely benign
SLC4A10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC4A10
(P104A +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(P104L +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(R121Q +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(R128T +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
GPathogenic
SLC4A10
(V364I +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A10
(L340V +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(N188K +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(S356N +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(P218S +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(P374T +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(A431V +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(H389N +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Deletion
(intron variant)
not provided
GLikely benign
SLC4A10
(L284R +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(L516F +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC4A10
(R459C +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(S317N +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A10
(F546V +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC4A10
(G329V +10 more)
Single nucleotide variant
(missense variant)
SLC4A10-related disorder
GUncertain significance
SLC4A10
(Y524C +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(K354M +10 more)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC4A10
(K354M +21 more)
Single nucleotide variant
(missense variant)
SLC4A10-related neurodevelopmental disorder
GLikely pathogenic
SLC4A10
(R399W +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
GPathogenic
SLC4A10
(T604S +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A10
(S443P +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Copy number gain
See cases
GUncertain significance
SLC4A10
(N643K +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(P657T +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(L475P +10 more)
Single nucleotide variant
(missense variant)
SLC4A10-related disorder
GUncertain significance
SLC4A10
(S478L +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(L675F +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(V723I +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(R682Q +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(D688H +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(Y498C +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
GPathogenic
SLC4A10
(I700V +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC4A10
(K668R +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(T669S +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(R534* +10 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
+1 more
GPathogenic/Likely pathogenic
SLC4A10
(M549V +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(S790G +10 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLC4A10
(W650* +10 more)
Single nucleotide variant
(nonsense)
SLC4A10-related neurodevelopmental disorder
GLikely pathogenic
SLC4A10
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SLC4A10
(L681F +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC4A10
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
+1 more
GPathogenic/Likely pathogenic
SLC4A10
(R735K +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(P742L +9 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
GPathogenic
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC4A10
(E1010K +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC4A10
(Q1056E +10 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC4A10
(M1061I +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC4A10
(Y1055N +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(P856Q +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(I1005V +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(S1071P +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
(A1074T +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC4A10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC4A10
(N1024I +10 more)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC4A10
(S1093Y +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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