"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CSGALNACT1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1601625	NM_001354483.2(CSGALNACT1):c.1439G>A (p.Arg480His)	CSGALNACT1 (R480H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1579962	NM_001354483.2(CSGALNACT1):c.1418T>A (p.Phe473Tyr)	CSGALNACT1 (F473Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1645885	NM_001354483.2(CSGALNACT1):c.783G>A (p.Thr261=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	Skeletal dysplasia, mild, with joint laxity and advanced bone age +1 more	GBenign/Likely benign
Select item 1573402	NM_001354483.2(CSGALNACT1):c.409G>A (p.Val137Ile)	CSGALNACT1 (V137I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1623253	NM_001354483.2(CSGALNACT1):c.397G>A (p.Val133Met)	CSGALNACT1 (V133M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign

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