"UBA1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 774767	NM_003334.4(UBA1):c.84C>T (p.Ser28=)	LOC126863253, UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GLikely benign
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 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 702776	NM_003334.4(UBA1):c.648A>G (p.Pro216=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign
Select item 2023872	NM_003334.4(UBA1):c.678+6G>A	UBA1	Single nucleotide variant (intron variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GConflicting classifications of pathogenicity
Select item 746977	NM_003334.4(UBA1):c.687C>T (p.Pro229=)	UBA1	Single nucleotide variant (synonymous variant)	UBA1-related disorder +1 more	GLikely benign
Select item 387591	NM_003334.4(UBA1):c.812-4G>A	UBA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1575494	NM_003334.4(UBA1):c.1156C>T (p.Leu386=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GLikely benign
Select item 368334	NM_003334.4(UBA1):c.1242C>T (p.Ser414=)	UBA1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 368335	NM_003334.4(UBA1):c.1296C>T (p.Leu432=)	UBA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 509680	NM_003334.4(UBA1):c.1353T>C (p.Tyr451=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +3 more	GLikely benign
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
Select item 1166384	NM_003334.4(UBA1):c.1818T>C (p.Asn606=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +1 more	GBenign/Likely benign
Select item 3030186	NM_003334.4(UBA1):c.2275-5_2275-3del	UBA1	Deletion (intron variant)	UBA1-related disorder	GLikely benign
Select item 368343	NM_003334.4(UBA1):c.2308A>C (p.Asn770His)	UBA1 (N770H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1166511	NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr)	UBA1 (A817T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 465034	NM_003334.4(UBA1):c.2595A>G (p.Ala865=)	UBA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2633294	NM_003334.4(UBA1):c.2639G>A (p.Arg880Gln)	UBA1 (R880Q)	Single nucleotide variant (missense variant)	UBA1-related disorder	GUncertain significance
Select item 3036997	NM_003334.4(UBA1):c.2646+3G>A	UBA1	Single nucleotide variant (intron variant)	UBA1-related disorder	GLikely benign
Select item 2632848	NM_003334.4(UBA1):c.2878G>A (p.Val960Ile)	UBA1 (V960I)	Single nucleotide variant (missense variant)	UBA1-related disorder	GUncertain significance
Select item 740937	NM_003334.4(UBA1):c.2982G>T (p.Val994=)	UBA1	Single nucleotide variant (synonymous variant)	Infantile-onset X-linked spinal muscular atrophy +2 more	GBenign/Likely benign

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Items: 21