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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLIS2
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
LAMA1
(C427*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(Y988fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(Q94R)
Single nucleotide variant
(missense variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GLikely pathogenic
LAMA1
(P1018fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
LAMA1
(I165fs)
Deletion
(frameshift variant)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
GPathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
NPHP3-related disorder
+2 more
GPathogenic/Likely pathogenic
LAMA1
(R782*)
Single nucleotide variant
(nonsense)
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
+1 more
GPathogenic
LAMA1
(R1133*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
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