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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ARIH2, CCDC71
+34 more
Copy number gain
See cases
GUncertain significance
DALRD3, WDR6
(P538S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DALRD3, WDR6
(L537V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DALRD3, WDR6
(H362R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DALRD3, WDR6
(P508L +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
DALRD3, WDR6
(R340Q +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
DALRD3, WDR6
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
DALRD3, WDR6
(L489R +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
DALRD3
(P471L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(F283S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(L449R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(E276K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(S267N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(Y417* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 86
GConflicting classifications of pathogenicity
DALRD3
(R242H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(R242C +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 86
GUncertain significance
DALRD3
(T394M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(V197I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DALRD3
(A178V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(Q172H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(H144L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(Q132R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DALRD3
(L129Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(C118R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(T274P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DALRD3
(V247A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(S246F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(N234fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
DALRD3
(E223K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(S188F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DALRD3
(D165H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(V163L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(D144N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DALRD3
(P129L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(P129R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(A109S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DALRD3
(P80S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DALRD3
(A79T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(P74L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(L67R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DALRD3
(G23D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
(A14P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DALRD3
Single nucleotide variant
(5 prime UTR variant +1 more)
DALRD3-related disorder
GUncertain significance
DALRD3, NDUFAF3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
DALRD3, NDUFAF3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ARIH2, ARIH2OS
+29 more
Deletion
not provided
GUncertain significance
SLC25A20, TCTA
+23 more
Deletion
Carnitine acylcarnitine translocase deficiency
+2 more
GPathogenic
ARIH2, ARIH2OS
+13 more
Deletion
Carnitine acylcarnitine translocase deficiency
GPathogenic
ALS2CL, ARIH2
+66 more
Duplication
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
GUncertain significance
NCKIPSD, NDUFAF3
+71 more
Copy number loss
not provided
GPathogenic
AMIGO3, AMT
+62 more
Deletion
Chilblain lupus 1
+2 more
GPathogenic
AMIGO3, AMT
+64 more
Copy number loss
not provided
GPathogenic
PRKAR2A, ATRIP
+42 more
Copy number loss
not provided
GPathogenic
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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