ClinVar for MedGen (Select 1765785) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068023	NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)	UBA1 (R119W)	Single nucleotide variant (missense variant)	VEXAS syndrome	GUncertain significance
Select item 1490238	NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)	UBA1 (R174Q)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GUncertain significance
Select item 1318833	NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)	UBA1 (K268N)	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GUncertain significance
Select item 1298353	NM_003334.4(UBA1):c.118-1G>C	LOC126863253, UBA1	Single nucleotide variant (splice acceptor variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 1298352	NM_003334.4(UBA1):c.167C>T (p.Ser56Phe)	LOC126863253, UBA1	Single nucleotide variant (missense variant)	Infantile-onset X-linked spinal muscular atrophy	GUncertain significance
Select item 981654	NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	LOC126863253, UBA1 (M41L)	Single nucleotide variant (missense variant)	VEXAS syndrome +2 more	GConflicting classifications of pathogenicity
Select item 965290	NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	LOC126863253, UBA1 (M41T)	Single nucleotide variant (missense variant)	VEXAS syndrome +3 more	GConflicting classifications of pathogenicity
Select item 836983	NM_003334.4(UBA1):c.121A>G (p.Met41Val)	LOC126863253, UBA1 (M41V)	Single nucleotide variant (missense variant)	VEXAS syndrome +4 more	GConflicting classifications of pathogenicity
Select item 368339	NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)	UBA1 (L568V)	Single nucleotide variant (missense variant)	UBA1-related disorder +3 more	GBenign/Likely benign