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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP1, ADI1
+104 more
Copy number gain
See cases
GUncertain significance
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+50 more
Copy number loss
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+46 more
Copy number loss
See cases
GLikely pathogenic
ACP1, ALKAL2
+46 more
Copy number loss
See cases
GPathogenic
ACP1, ADAM17
+498 more
Copy number gain
See cases
GPathogenic
ACP1, ADI1
+108 more
Copy number gain
See cases
GLikely pathogenic
ACP1, ALKAL2
+27 more
Copy number loss
See cases
GUncertain significance
ACP1, ALKAL2
+44 more
Copy number loss
See cases
GLikely pathogenic
ACP1, ALKAL2
+35 more
Copy number loss
See cases
GUncertain significance
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+28 more
Copy number gain
See cases
GPathogenic
ACP1, ADI1
+107 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+49 more
Copy number loss
See cases
GPathogenic
ACP1, ALKAL2
+45 more
Copy number loss
See cases
GPathogenic
ACP1, ALKAL2
+75 more
Copy number loss
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
ACP1, ADI1
+108 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+413 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+35 more
Copy number loss
See cases
GUncertain significance
ACP1, ALKAL2
+41 more
Copy number loss
See cases
GPathogenic
ACP1, ALKAL2
+68 more
Copy number loss
See cases
GPathogenic
LOC129933017, LOC129933018
+237 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+49 more
Copy number loss
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01865
+21 more
Copy number gain
See cases
GUncertain significance
LINC01115, LINC01865
+18 more
Copy number gain
See cases
GBenign
LINC01874, LINC01875
+11 more
Copy number gain
See cases
GBenign
LINC01115, LINC01939
+11 more
Copy number gain
See cases
GBenign
TMEM18
(V100I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM18
(D90N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM18
(A59V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TMEM18
(N70S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM18
Single nucleotide variant
(intron variant)
not provided
GBenign
TMEM18
(M32K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM18
(P2A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACP1, ALKAL2
+7 more
Copy number loss
not provided
GPathogenic
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
ACP1, ALKAL2
+3 more
Copy number gain
not provided
GUncertain significance
SNTG2, TMEM18
Copy number gain
not provided
GUncertain significance
ACP1, ALKAL2
+4 more
Copy number loss
not provided
GUncertain significance
ACP1, ALKAL2
+7 more
Copy number loss
Intellectual disability, autosomal dominant 39
GPathogenic
ACP1, ALKAL2
+7 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
MYT1L, PXDN
+3 more
Copy number loss
not specified
GPathogenic
MYT1L, PXDN
+3 more
Copy number loss
not specified
GPathogenic
PXDN, ACP1
+7 more
Copy number loss
Intellectual disability, autosomal dominant 39
GPathogenic
SH3YL1, SNTG2
+4 more
Copy number loss
not provided
GUncertain significance
FAM110C, ALKAL2
+6 more
Copy number loss
not provided
GUncertain significance
ALKAL2, MYT1L
+7 more
Copy number loss
not provided
GPathogenic
ACP1, ALKAL2
+7 more
Copy number loss
not provided
GPathogenic
ACP1, ADI1
+19 more
Copy number gain
not provided
GPathogenic
ACP1, ADI1
+19 more
Copy number gain
not provided
GPathogenic
ACP1, ADI1
+15 more
Copy number gain
not provided
GUncertain significance
ACP1, ALKAL2
+7 more
Copy number loss
not provided
GPathogenic
ACP1, ADI1
+15 more
Copy number gain
not provided
GPathogenic
TPO, SNTG2
+1 more
Copy number loss
not provided
GUncertain significance
ACP1, ADAM17
+65 more
Copy number gain
See cases
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
SNTG2, TMEM18
Copy number gain
See cases
GUncertain significance
ACP1, ALKAL2
+3 more
Copy number gain
See cases
GUncertain significance
SNTG2, TMEM18
Copy number gain
See cases
GLikely benign
ACP1, ALKAL2
+4 more
Copy number loss
See cases
GLikely benign
TMEM18
Copy number gain
See cases
GLikely benign
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