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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+586 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+691 more
Copy number gain
See cases
GPathogenic
ACO1, ALDH1B1
+436 more
Copy number gain
See cases
GLikely pathogenic
ACO1, ALDH1B1
+504 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
PTENP1-AS, RECK
+211 more
Copy number loss
See cases
GPathogenic
CCIN, SPATA31F1
+138 more
Duplication
Anauxetic dysplasia
GUncertain significance
PIGO-AS1, STOML2
(M309T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIGO-AS1, STOML2
(D258N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIGO-AS1, STOML2
(R259Q +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PIGO-AS1, STOML2
(R201W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIGO-AS1, STOML2
(R152W +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PIGO-AS1, STOML2
(R123C +2 more)
Single nucleotide variant
(intron variant +2 more)
not provided
+1 more
GUncertain significance
PIGO-AS1, STOML2
(K94R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIGO-AS1, STOML2
(D70N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PIGO-AS1, STOML2
(E35D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PIGO-AS1, STOML2
(S32N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130001695, PIGO-AS1
+1 more
(R34Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PIGO-AS1, STOML2
(A24P)
Single nucleotide variant
(non-coding transcript variant +3 more)
not specified
GUncertain significance
LOC130001696, PIGO-AS1
+1 more
(T9I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD18B, APTX
+75 more
Duplication
not provided
GUncertain significance
ANKRD18B, AQP3
+66 more
Deletion
Spastic paraplegia
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
CREB3, STOML2
+188 more
Copy number gain
not provided
GPathogenic
RGP1, RMRP
+51 more
Duplication
Anauxetic dysplasia
GUncertain significance
OR13J1, OR2S2
+87 more
Duplication
not provided
GUncertain significance
ADAMTSL1, CEP78
+596 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+199 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
ACER2, ACO1
+169 more
Copy number gain
MISSED ABORTION
GPathogenic
ATOSB, ATP6V1G1
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ACER2, ACO1
+204 more
Copy number gain
Bradycardia
GPathogenic
ACER2, ACO1
+204 more
Copy number gain
Tetrasomy 9p
GPathogenic
ANKRD18A, ANKRD18B
+768 more
Copy number gain
not specified
GPathogenic
SPATA31A5, SPATA31A6
+257 more
Copy number gain
not specified
GPathogenic
ACER2, ACO1
+205 more
Copy number gain
not specified
GPathogenic
ARHGEF39, ATOSB
+42 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ARHGEF39, ARID3C
+48 more
Deletion
Hyperphosphatasia with intellectual disability syndrome 2
GPathogenic
ACO1, ANKRD18B
+91 more
Copy number gain
not provided
GLikely pathogenic
ACER2, ACO1
+213 more
Copy number gain
not provided
GPathogenic
ANKS6, ANP32B
+326 more
Inversion
Abnormal chromosome morphology
+1 more
GLikely pathogenic
ALDH1B1, ANKRD18A
+74 more
Copy number gain
not provided
GPathogenic
CER1, CHMP5
+193 more
Copy number gain
not provided
GPathogenic
MSMP, OR13D1
+769 more
Copy number gain
not provided
GPathogenic
CNTNAP3B, CREB3
+204 more
Copy number gain
not provided
GPathogenic
GBA2, MPDZ
+195 more
Copy number gain
not provided
GPathogenic
APBA1, APTX
+185 more
Complex
Glioma
GLikely pathogenic
ARHGEF39, ARID3C
+48 more
Duplication
Autosomal recessive distal spinal muscular atrophy 2
+1 more
GUncertain significance
PIGO, RGP1
+37 more
Deletion
Hyperphosphatasia with intellectual disability syndrome 2
GPathogenic
ACER2, ACO1
+225 more
Copy number gain
not provided
GPathogenic
ACER2, ACO1
+213 more
Copy number gain
not provided
GPathogenic
CNTNAP3, CNTNAP3B
+204 more
Copy number gain
not provided
GPathogenic
ATOSB, B4GALT1
+204 more
Copy number gain
not provided
GPathogenic
DMAC1, DMRT1
+194 more
Copy number gain
not provided
GPathogenic
ACER2, ACO1
+201 more
Copy number gain
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus
GLikely pathogenic
NPR2, TLN1
+37 more
Duplication
Hyperphosphatasia with intellectual disability syndrome 2
GUncertain significance
ODF2, OGN
+769 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+194 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+274 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+99 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
CIMIP2B, CLTA
+197 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+215 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+195 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+195 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+202 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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