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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOC, BLTP2
+88 more
Copy number gain
See cases
GBenign
POLDIP2
Single nucleotide variant
(intron variant)
not provided
GBenign
POLDIP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLDIP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLDIP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLDIP2, TMEM199
Deletion
(intron variant)
not provided
GBenign
POLDIP2, TMEM199
(A36V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
POLDIP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLDIP2, TMEM199
(P29fs)
Duplication
(frameshift variant)
not provided
GBenign
POLDIP2, TMEM199
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POLDIP2, TMEM199
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
POLDIP2, TMEM199
Duplication
(5 prime UTR variant)
not provided
GBenign
FAM222B, FLOT2
+41 more
Copy number gain
Developmental delay with or without intellectual impairment or behavioral abnormalities
GUncertain significance
ABHD15, ALDOC
+49 more
Copy number gain
not specified
GPathogenic
ABHD15, ALDOC
+49 more
Copy number gain
not provided
GPathogenic
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
ABHD15, ADAP2
+80 more
Copy number gain
not provided
GLikely pathogenic
LYRM9, MIR144
+72 more
Copy number loss
Mitogen-activated protein kinase kinase inhibitor response
Gdrug response
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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