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Links from Gene

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNRPG
(H14D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SNRPG
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
SNRPG
(G34V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AAK1, ACTR2
+43 more
Copy number loss
not provided
GUncertain significance
AAK1, ACTG2
+72 more
Duplication
not provided
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
AAK1, ADD2
+107 more
Duplication
not specified
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
FAM136A, PCYOX1
+3 more
Copy number gain
not provided
GUncertain significance
AAK1, ACTG2
+127 more
Duplication
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
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