"CSGALNACT1-related condition"[Disease/phenotype] AND "PreventionGenet - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038018	NM_001354483.2(CSGALNACT1):c.*8G>T	CSGALNACT1	Single nucleotide variant (3 prime UTR variant +1 more)	CSGALNACT1-related condition	GLikely benign
Select item 1599898	NM_001354483.2(CSGALNACT1):c.1562G>C (p.Arg521Pro)	CSGALNACT1 (R521P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2064311	NM_001354483.2(CSGALNACT1):c.1461C>T (p.Pro487=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1601625	NM_001354483.2(CSGALNACT1):c.1439G>A (p.Arg480His)	CSGALNACT1 (R480H)	Single nucleotide variant (missense variant +1 more)	Skeletal dysplasia, mild, with joint laxity and advanced bone age +2 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 +2 more	GBenign/Likely benign
Select item 1981870	NM_001354483.2(CSGALNACT1):c.1206C>G (p.Val402=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1599738	NM_001354483.2(CSGALNACT1):c.1053C>T (p.Asn351=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition +1 more	GBenign/Likely benign
Select item 1614827	NM_001354483.2(CSGALNACT1):c.789C>A (p.Ile263=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition +1 more	GLikely benign
Select item 1645885	NM_001354483.2(CSGALNACT1):c.783G>A (p.Thr261=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition +2 more	GBenign/Likely benign
Select item 1634095	NM_001354483.2(CSGALNACT1):c.782C>T (p.Thr261Met)	CSGALNACT1 (T261M)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related condition +1 more	GLikely benign
Select item 1634097	NM_001354483.2(CSGALNACT1):c.718A>G (p.Ile240Val)	CSGALNACT1 (I240V)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related condition +1 more	GLikely benign
Select item 1623253	NM_001354483.2(CSGALNACT1):c.397G>A (p.Val133Met)	CSGALNACT1 (V133M)	Single nucleotide variant (missense variant +1 more)	Skeletal dysplasia, mild, with joint laxity and advanced bone age +2 more	GBenign/Likely benign
Select item 3032819	NM_001354483.2(CSGALNACT1):c.366C>A (p.Ala122=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition	GLikely benign
Select item 3053958	NM_001354483.2(CSGALNACT1):c.356A>T (p.Asp119Val)	CSGALNACT1 (D119V)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related condition	GUncertain significance
Select item 3052944	NM_001354483.2(CSGALNACT1):c.354C>T (p.Ala118=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition	GLikely benign
Select item 3040052	NM_001354483.2(CSGALNACT1):c.348C>G (p.Thr116=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition	GLikely benign
Select item 1627174	NM_001354483.2(CSGALNACT1):c.177C>T (p.Ala59=)	CSGALNACT1	Single nucleotide variant (synonymous variant +1 more)	CSGALNACT1-related condition +1 more	GBenign/Likely benign
Select item 1599513	NM_001354483.2(CSGALNACT1):c.61C>T (p.Leu21Phe)	CSGALNACT1 (L21F)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related condition +1 more	GBenign/Likely benign
Select item 1606684	NM_001354483.2(CSGALNACT1):c.40C>T (p.Arg14Trp)	CSGALNACT1 (R14W)	Single nucleotide variant (missense variant +1 more)	CSGALNACT1-related condition +1 more	GBenign