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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEXA
(R499H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
HEXA
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
HEXA
Single nucleotide variant
(synonymous variant)
Tay-Sachs disease
+4 more
GPathogenic/Likely pathogenic
HEXA
(R178H +1 more)
Single nucleotide variant
(missense variant +1 more)
HEXA-related disorder
+4 more
GPathogenic/Likely pathogenic
HEXA
(M1V)
Single nucleotide variant
(missense variant +2 more)
Tay-Sachs disease
GPathogenic
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