"PreventionGenetics, part of Exact Sciences"[submitter] AND "UROS"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 747073	NM_000375.3(UROS):c.751C>G (p.Leu251Val)	UROS (L251V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3754	NM_000375.3(UROS):c.683C>T (p.Thr228Met)	UROS (T228M +2 more)	Single nucleotide variant (missense variant +1 more)	UROS-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 743521	NM_000375.3(UROS):c.663T>C (p.Phe221=)	UROS	Single nucleotide variant (synonymous variant +1 more)	UROS-related disorder +1 more	GBenign/Likely benign
Select item 3057717	NM_000375.3(UROS):c.661-3T>C	UROS	Single nucleotide variant (intron variant)	UROS-related disorder	GLikely benign
Select item 3031242	NM_000375.3(UROS):c.562-5C>T	UROS	Single nucleotide variant (intron variant)	UROS-related disorder	GLikely benign
Select item 3049221	NM_000375.3(UROS):c.394+4382C>G	UROS	Single nucleotide variant (intron variant)	UROS-related disorder	GLikely benign
Select item 299191	NM_000375.3(UROS):c.338A>T (p.Asp113Val)	UROS (D113V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria +2 more	GBenign/Likely benign
Select item 1945141	NM_000375.3(UROS):c.93T>C (p.Thr31=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3767	NM_000375.3(UROS):c.63+1G>A	UROS	Single nucleotide variant (splice donor variant)	UROS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 299194	NM_000375.3(UROS):c.27G>A (p.Ala9=)	UROS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign