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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EVC2, LOC126806961
(G488S +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GLikely benign
EVC2, LOC126806961
Single nucleotide variant
(synonymous variant)
Ellis-van Creveld syndrome
+2 more
GBenign
EVC2, LOC126806961
(T455R +1 more)
Single nucleotide variant
(missense variant)
EVC2-related condition
+4 more
GConflicting classifications of pathogenicity
EVC2, LOC126806961
(R399* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
EVC2, LOC126806961
(R390Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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