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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMCN1
Single nucleotide variant
(synonymous variant)
Age related macular degeneration 1
+2 more
GBenign/Likely benign
HMCN1
(N1529S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HMCN1
(E2893G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
HMCN1
(L2922I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HMCN1
(G2939S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LOC129388665, HMCN1
(T5004F)
Indel
(missense variant)
not provided
+2 more
GBenign/Likely benign
HMCN1, LOC129388665
(T5004S)
Single nucleotide variant
(missense variant)
Age related macular degeneration 1
+2 more
GBenign/Likely benign
HMCN1, LOC129388665
(T5004I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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