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Items: 74

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
+9 more
Copy number gain
See cases
GUncertain significance
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, ALKAL2
+18 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, ALKAL2
+14 more
Copy number loss
See cases
GUncertain significance
ACP1, ALKAL2
+18 more
Copy number gain
See cases
GUncertain significance
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
ALKAL2
(E149A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(H120Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(L101I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(D95E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2, LOC129932976
(G75A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2, LOC129932976
(L62F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(H56Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(R39W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(Q35R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(G34R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ALKAL2
(P31R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(A26P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(R23P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(A18T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKAL2
(L9F)
Single nucleotide variant
(missense variant)
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
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
ACP1, ALKAL2
+1 more
Copy number gain
not provided
GUncertain significance
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, ACP1
Copy number loss
not provided
GLikely benign
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
SH3YL1, ACP1
+1 more
Copy number gain
not provided
GUncertain significance
ALKAL2, SH3YL1
+2 more
Copy number gain
not provided
GUncertain significance
FAM110C, ACP1
+2 more
Copy number gain
not provided
GLikely benign
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
ACP1, ALKAL2
+3 more
Copy number gain
See cases
GUncertain significance
ACP1, ALKAL2
+1 more
Copy number loss
See cases
GUncertain significance
ACP1, ALKAL2
+4 more
Copy number loss
See cases
GLikely benign
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