Related gene-specific medical variations for Gene (Select 54829) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052688	NM_017680.6(ASPN):c.727T>C (p.Leu243=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3051497	NM_017680.6(ASPN):c.378A>T (p.Ser126=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3048941	NM_017680.6(ASPN):c.89T>C (p.Met30Thr)	ASPN, CENPP (M30T)	Single nucleotide variant (missense variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3041357	NM_017680.6(ASPN):c.575G>A (p.Gly192Glu)	ASPN, CENPP (G192E)	Single nucleotide variant (missense variant +1 more)	ASPN-related disorder	GBenign
Select item 3040749	NM_017680.6(ASPN):c.132T>C (p.Asp44=)	ASPN, CENPP	Single nucleotide variant (synonymous variant +1 more)	ASPN-related disorder	GLikely benign
Select item 3033526	NM_017680.6(ASPN):c.114TGA[18] (p.Asp50_Glu51insAspAspAspAspAsp)	ASPN, CENPP	Microsatellite (inframe insertion +1 more)	CENPP-related disorder	GBenign
Select item 2274517	NM_017680.6(ASPN):c.627T>A (p.Asn209Lys)	ASPN, CENPP (N209K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247049	NM_017680.6(ASPN):c.62C>A (p.Pro21His)	ASPN, CENPP (P21H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1302755	NM_017680.6(ASPN):c.112_152= (p.Asp38_Glu51=)	ASPN, CENPP	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 1248251	NM_017680.6(ASPN):c.112_(114_?)GAT[19] (p.Glu51_Glu(51_?)Aspfs)	ASPN, CENPP	Microsatellite (frameshift variant +1 more)	not provided	GBenign
Select item 1237100	NM_017680.6(ASPN):c.112_(114_?)GAT[16] (p.Glu51_Glu(51_?)Aspfs)	ASPN, CENPP	Microsatellite (frameshift variant +1 more)	not provided	GBenign
Select item 1049559	NM_017680.6(ASPN):c.1090C>T (p.Arg364Cys)	ASPN, CENPP (R364C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 419955	NM_001012267.3(CENPP):c.564+94884TCA[17]	ASPN, CENPP	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2527	NM_017680.6(ASPN):c.112_(114_?)GAT[15] (p.Glu51_Glu(51_?)Aspfs)	ASPN, CENPP	Microsatellite (frameshift variant +1 more)	CENPP-related disorder +1 more	GBenign