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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
LOC130063249, LOC130063250
+124 more
Copy number gain
See cases
GPathogenic
ACER1, ACSBG2
+113 more
Copy number gain
See cases
GUncertain significance
ALKBH7
(T4I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(P15H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(W17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(G20D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(R60C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(E77K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(R80H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(A87D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(A94V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(G100R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(D123V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(L135P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(L137V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(R144Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(P161R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(Y165C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(A171T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(A171G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(R191W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(R203C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH7
(R203H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACER1, ACSBG2
+65 more
Duplication
not provided
GUncertain significance
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
CRB3, CTXN1
+51 more
Deletion
Mucolipidosis type IV
GPathogenic
ACER1, ACSBG2
+16 more
Copy number gain
not provided
GUncertain significance
TNFSF14, SH2D3A
+18 more
Copy number gain
not provided
GUncertain significance
MLLT1, ACER1
+17 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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