ClinVar for MedGen (Select 1765785) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14902381.	NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) GRCh37: ChrX:47060333 GRCh38: ChrX:47200934	UBA1	R174Q	Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome, Inborn genetic diseases	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13188332.	NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) GRCh37: ChrX:47061002 GRCh38: ChrX:47201603	UBA1	K268N	not provided, Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome	Uncertain significance (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12983533.	NM_003334.4(UBA1):c.118-1G>C GRCh37: ChrX:47058446 GRCh38: ChrX:47199047	LOC126863253, UBA1		VEXAS syndrome	Pathogenic (Sep 30, 2021)	no assertion criteria provided
Select item 12983524.	NM_003334.4(UBA1):c.167C>T (p.Ser56Phe) GRCh37: ChrX:47058496 GRCh38: ChrX:47199097	LOC126863253, UBA1		Infantile-onset X-linked spinal muscular atrophy	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 9816545.	NM_003334.4(UBA1):c.121A>C (p.Met41Leu) GRCh37: ChrX:47058450 GRCh38: ChrX:47199051	LOC126863253, UBA1	M41L	not provided, VEXAS syndrome, Infantile-onset X-linked spinal muscular atrophy	Conflicting interpretations of pathogenicity (Jan 3, 2023)	criteria provided, conflicting interpretations
Select item 9652906.	NM_003334.4(UBA1):c.122T>C (p.Met41Thr) GRCh37: ChrX:47058451 GRCh38: ChrX:47199052	LOC126863253, UBA1	M41T	UBA1-related condition, VEXAS syndrome, Infantile-onset X-linked spinal muscular atrophy, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 8369837.	NM_003334.4(UBA1):c.121A>G (p.Met41Val) GRCh37: ChrX:47058450 GRCh38: ChrX:47199051	UBA1, LOC126863253	M41V	Infantile-onset X-linked spinal muscular atrophy, UBA1-related condition, Inborn genetic diseases, not provided, VEXAS syndrome	Conflicting interpretations of pathogenicity (May 10, 2023)	criteria provided, conflicting interpretations
Select item 3683398.	NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) GRCh37: ChrX:47065473 GRCh38: ChrX:47206074	UBA1	L568V	Infantile-onset X-linked spinal muscular atrophy, VEXAS syndrome, not specified, Infantile-onset X-linked spinal muscular atrophy	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts