"Genome-Nilou Lab"[submitter] AND "LOC102723692"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1170431	NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met)	LOC102723692, XYLT1 (T665M)	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GBenign
Select item 1168621	NM_022166.4(XYLT1):c.1989C>T (p.Ala663=)	LOC102723692, XYLT1	Single nucleotide variant (non-coding transcript variant +1 more)	Desbuquois dysplasia 1 +2 more	GBenign