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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996415, LOC129996416
+435 more
Copy number loss
See cases
GPathogenic
LOC132089395, LOC132089396
+324 more
Copy number loss
See cases
GPathogenic
AARS2, ABCC10
+221 more
Copy number loss
See cases
GPathogenic
DNPH1
(F158L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNPH1
(R156P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNPH1
(R139Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNPH1
(R139W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNPH1
(A134T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DNPH1
(Q122P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(L116M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(V109M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(A87V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1, LOC129996500
(G63D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(G27A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(G16R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(S10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(P7A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DNPH1
(V6M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC10, BICRAL
+43 more
Deletion
not provided
GUncertain significance
ABCC10, BICRAL
+57 more
Duplication
PRPH2-related disorder
GUncertain significance
BYSL, CCND3
+58 more
Deletion
Peroxisome biogenesis disorder
GPathogenic
DLK2, ABCC10
+27 more
Deletion
not provided
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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