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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYA1
Single nucleotide variant
(intron variant)
Melnick-Fraser syndrome
+4 more
GConflicting classifications of pathogenicity
EYA1
(D289Y +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
EYA1
Single nucleotide variant
(synonymous variant)
EYA1-related condition
+6 more
GBenign/Likely benign
EYA1
(S201* +5 more)
Single nucleotide variant
(nonsense)
Melnick-Fraser syndrome
+2 more
GPathogenic
EYA1
(Q183R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
EYA1
(Y109H +3 more)
Single nucleotide variant
(missense variant +1 more)
Branchiootic syndrome 1
+4 more
GConflicting classifications of pathogenicity
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