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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID3B, C15orf39
+48 more
Copy number loss
not provided
GPathogenic
CSPG4, ODF3L1
Copy number gain
not provided
GUncertain significance
ARID3B, C15orf39
+34 more
Copy number loss
Hearing impairment
GPathogenic
TMEM266, CSPG4
+9 more
Copy number gain
not provided
GUncertain significance
SNX33, GOLGA6C
+11 more
Copy number gain
not provided
GUncertain significance
ARID3B, C15orf39
+34 more
Copy number loss
not provided
GPathogenic
COMMD4, CSPG4
+10 more
Copy number gain
not provided
GUncertain significance
ADPGK, ARID3B
+47 more
Copy number gain
not provided
GPathogenic
CSPG4, IMP3
+6 more
Copy number loss
not provided
GPathogenic
ADPGK, ARID3B
+48 more
Copy number loss
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
COMMD4, CSPG4
+8 more
Duplication
SIN3A-related intellectual disability syndrome due to a point mutation
GUncertain significance
ADPGK, STOML1
+48 more
Copy number loss
not provided
Gnot provided
ARID3B, C15orf39
+49 more
Copy number gain
See cases
GUncertain significance
COMMD4, SNUPN
+10 more
Copy number gain
See cases
GUncertain significance
ADPGK, ARID3B
+47 more
Copy number gain
See cases
GPathogenic
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