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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ABLIM3, ADRB2
+313 more
Copy number gain
See cases
GPathogenic
C5orf46, CTB-99A3.1
+82 more
Copy number loss
See cases
GPathogenic
SCGB3A2
Single nucleotide variant
Inherited susceptibility to asthma
Grisk factor
SCGB3A2
(L43I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGB3A2
(L51V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCGB3A2
(L56M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5orf46, SCGB3A2
+2 more
Deletion
Ichthyosis linearis circumflexa
GPathogenic
C5orf46, SCGB3A2
+4 more
Copy number loss
not provided
GPathogenic
C5orf46, JAKMIP2
+2 more
Copy number gain
not provided
GUncertain significance
ABLIM3, ADRB2
+23 more
Copy number loss
not provided
GPathogenic
C5orf46, JAKMIP2
+2 more
Copy number gain
not provided
GUncertain significance
ABLIM3, ADRB2
+92 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
CCDC69, CCNH
+385 more
Deletion
Familial adenomatous polyposis 1
+1 more
GPathogenic
C5orf46, SCGB3A2
+1 more
Copy number gain
not provided
GLikely benign
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ADRB2
+48 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
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