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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
ATOH8, C2orf68
+302 more
Copy number gain
See cases
GPathogenic
CTNNA2, CTNNA2-AS1
+5 more
Copy number gain
See cases
GUncertain significance
REG3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REG3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
REG3A
(S148N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
REG3A
(A147V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
REG3A
(S125T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
REG3A
(E118D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
REG3A
(N116S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
REG3A
(P109S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
REG3A
(V102I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
REG3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
REG3A
(G48V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
REG3A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
REG3A
(S11T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
REG3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
CTNNA2, LRRTM1
+5 more
Copy number loss
not provided
GUncertain significance
REG3A, REG1B
+2 more
Copy number loss
not provided
GUncertain significance
CTNNA2, LRRTM1
+4 more
Copy number loss
not provided
GUncertain significance
CTNNA2, LRRTM1
+5 more
Copy number loss
not provided
GUncertain significance
ATOH8, C2orf68
+41 more
Copy number loss
not provided
GPathogenic
CTNNA2, EVA1A
+11 more
Copy number loss
not provided
GPathogenic
ATOH8, AUP1
+78 more
Copy number loss
not provided
GPathogenic
REG3A
Copy number loss
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
SFTPB, SH2D6
+81 more
Copy number loss
See cases
GPathogenic
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