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Items: 1 to 100 of 188

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
DYRK1B
Single nucleotide variant
(3 prime UTR variant)
DYRK1B-related disorder
+1 more
GConflicting classifications of pathogenicity
DYRK1B
Single nucleotide variant
(3 prime UTR variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(R579C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DYRK1B
(G589D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(P574T +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(P609L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
DYRK1B
(P565R +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
(P564L +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(R555Q +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(R555W +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(R593Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
(R553W +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(P587L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DYRK1B
(Q585R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(A543V +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
(P538L +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(P538S +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
+2 more
GBenign/Likely benign
DYRK1B
(P537S +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
(A533G +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(D525E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DYRK1B
(T516P +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(P555A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DYRK1B
(R551P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DYRK1B
(R507Q +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
+1 more
GUncertain significance
DYRK1B
(P516L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(P503A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
(P503S +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
(L514S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(Q513R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(H495Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(R474Q +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
(P472L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
(Q471fs +2 more)
Deletion
(frameshift variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
+1 more
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
(P455L +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(G452S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(R448Q +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(R444C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(S428C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
(S422R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
(D456V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DYRK1B
(A413V +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(A453T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DYRK1B
(S406G +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
+1 more
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GBenign
DYRK1B
(T394M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYRK1B
(R393C +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DYRK1B
(G401S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DYRK1B
(G389R +2 more)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
+2 more
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
(R379L +2 more)
Single nucleotide variant
(missense variant)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
(A418T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
GLikely benign
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
(R410G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant +1 more)
DYRK1B-related disorder
GLikely benign
DYRK1B
(P394L)
Single nucleotide variant
(missense variant +1 more)
Abdominal obesity-metabolic syndrome 3
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
DYRK1B
(G387R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYRK1B
(G371R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYRK1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYRK1B
(R358Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(G353fs)
Deletion
(frameshift variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(G352A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DYRK1B
(R349W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DYRK1B
(R344P)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
(R344C)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
+1 more
GUncertain significance
DYRK1B
(Q339H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYRK1B
(A335T)
Single nucleotide variant
(missense variant)
DYRK1B-related disorder
GUncertain significance
DYRK1B
Single nucleotide variant
(synonymous variant)
DYRK1B-related disorder
+2 more
GBenign/Likely benign
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