"Genome-Nilou Lab"[submitter] AND "HEXB"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167173	NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)	HEXB (L62S)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +2 more	GBenign
Select item 256356	NM_000521.4(HEXB):c.300-32C>T	HEXB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3874	NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)	HEXB (K121R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1185273	NM_000521.4(HEXB):c.512-112T>G	HEXB	Single nucleotide variant (intron variant)	Sandhoff disease +1 more	GBenign
Select item 256360	NM_000521.4(HEXB):c.558+45G>A	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 93202	NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	HEXB (I207V)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +2 more	GBenign
Select item 93203	NM_000521.4(HEXB):c.772-4A>G	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1210423	NM_000521.4(HEXB):c.806del (p.Asn269fs)	HEXB (N269fs +1 more)	Deletion (frameshift variant)	Sandhoff disease	GLikely pathogenic
Select item 129223	NM_000521.4(HEXB):c.1051T>C (p.Leu351=)	HEXB	Single nucleotide variant (synonymous variant)	Sandhoff disease +1 more	GBenign/Likely benign
Select item 1199283	NM_000521.4(HEXB):c.1332C>G (p.Ile444Met)	HEXB (I219M +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease	GUncertain significance