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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKAP13, LOC126862206
(D2334H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKAP13, LOC126862206
(A979G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKAP13, LOC126862206
(S2317Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKAP13, LOC126862206
(T2334I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKAP13, LOC126862206
(K983T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKAP13, LOC126862206
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC111822949, LOC112272574
+664 more
Copy number gain
See cases
GPathogenic
LOC130057971, LOC130057972
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
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