"Counsyl"[submitter] AND "GFM2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549863	NC_000005.10:g.74721699G>A	GFM2, HEXB (Q766* +2 more)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GUncertain significance
Select item 557797	NC_000005.10:g.74721757dup	GFM2, HEXB (T779fs +2 more)	Duplication (frameshift variant +1 more)	Sandhoff disease	GUncertain significance
Select item 555312	NC_000005.10:g.74721765G>A	GFM2, HEXB (R697* +2 more)	Single nucleotide variant (nonsense +1 more)	Sandhoff disease	GUncertain significance

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