"RUSC2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058679	NM_014806.5(RUSC2):c.258T>C (p.Ser86=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	RUSC2-related disorder	GLikely benign
Select item 1599680	NM_014806.5(RUSC2):c.488G>A (p.Arg163His)	RUSC2 (R163H)	Single nucleotide variant (missense variant +2 more)	RUSC2-related disorder +1 more	GBenign
Select item 1120664	NM_014806.5(RUSC2):c.594G>A (p.Glu198=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	RUSC2-related disorder +1 more	GLikely benign
Select item 1572858	NM_014806.5(RUSC2):c.1534G>T (p.Gly512Cys)	RUSC2 (G512C)	Single nucleotide variant (missense variant +2 more)	RUSC2-related disorder +1 more	GLikely benign
Select item 1368813	NM_014806.5(RUSC2):c.2013C>T (p.Asp671=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2695841	NM_014806.5(RUSC2):c.2400G>A (p.Ser800=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3047565	NM_014806.5(RUSC2):c.2424C>A (p.Pro808=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	RUSC2-related disorder	GLikely benign
Select item 1594898	NM_014806.5(RUSC2):c.2844C>T (p.Gly948=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	RUSC2-related disorder +1 more	GLikely benign
Select item 1327977	NM_014806.5(RUSC2):c.3342-10C>T	RUSC2	Single nucleotide variant (intron variant)	RUSC2-related disorder +2 more	GBenign
Select item 765442	NM_014806.5(RUSC2):c.3384C>T (p.His1128=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	RUSC2-related disorder +1 more	GLikely benign
Select item 2759292	NM_014806.5(RUSC2):c.3390C>T (p.Asp1130=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	RUSC2-related disorder +1 more	GLikely benign
Select item 1531412	NM_014806.5(RUSC2):c.3450C>T (p.Pro1150=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1167580	NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del)	RUSC2	Microsatellite (inframe_deletion +1 more)	Intellectual disability, autosomal recessive 61 +2 more	GBenign/Likely benign
Select item 1632916	NM_014806.5(RUSC2):c.4212-6C>A	RUSC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign