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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA2
(S307W +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(R1258H +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
Deletion
(splice donor variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GPathogenic
LOC126860796, ABCA2
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GLikely pathogenic
ABCA2
(S616fs +2 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GPathogenic
ABCA2
(F1689V +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(P1398H +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(A366T +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(T124M +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
Deletion
(inframe_indel +1 more)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(R1090W +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(D584N +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2, LOC126860796
(Q2038R +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(D152E +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(A903T +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(R264Q +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(L283fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GLikely pathogenic
ABCA2
(V1729I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCA2
(V2358L +2 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(R1383H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(D1673N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(R1664W +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
+1 more
GUncertain significance
ABCA2
(Q1370* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GLikely pathogenic
ABCA2, LOC126860796
(Y2012H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(R1160H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(D2141N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
(G1676S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GUncertain significance
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(3 prime UTR variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
+1 more
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GBenign
ABCA2
(R1513fs +1 more)
Indel
(frameshift variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GPathogenic
ABCA2
(G218fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GPathogenic
ABCA2
(Q343* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
GPathogenic
ABCA2
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
+1 more
GBenign/Likely benign
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