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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC6, ERCC6-PGBD3
+1 more
(R464W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
ERCC6, ERCC6-PGBD3
+1 more
(R447Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERCC6, PGBD3
(D425A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ERCC6, PGBD3
(G399D)
Single nucleotide variant
(missense variant +1 more)
COFS syndrome
+8 more
GBenign/Likely benign
ERCC6, PGBD3
(D386E)
Single nucleotide variant
(missense variant +1 more)
ERCC6-related condition
+5 more
GConflicting classifications of pathogenicity
ERCC6, ERCC6-PGBD3
+1 more
Microsatellite
(inframe_deletion)
DE SANCTIS-CACCHIONE SYNDROME
+3 more
GUncertain significance
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