ClinVar for PMC (Select 7027858) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1503160	NC_000008.10:g.(?_19263291)_(19297462_?)del	CSGALNACT1	Deletion	not provided	GLikely pathogenic
Select item 992625	NM_001354483.2(CSGALNACT1):c.791A>G (p.Asn264Ser)	CSGALNACT1 (N264S)	Single nucleotide variant (missense variant +1 more)	Skeletal dysplasia, mild, with joint laxity and advanced bone age	GLikely pathogenic
Select item 870480	NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr)	CSGALNACT1 (D432Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Skeletal dysplasia, mild, with joint laxity and advanced bone age	GLikely pathogenic
Select item 870479	NC_000008.10:g.19340642_19425619delinsA	CSGALNACT1	Indel	Skeletal dysplasia, mild, with joint laxity and advanced bone age	GPathogenic
Select item 870476	NC_000008.11:g.19411890_19467180del	CSGALNACT1	Deletion	Skeletal dysplasia, mild, with joint laxity and advanced bone age	GPathogenic

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