"Clinical Genetics, Academic Medical Center"[submitter] AND "SNRNP200" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197443	NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 197419	NM_014014.5(SNRNP200):c.5664C>T (p.His1888=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 779226	NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 95552	NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)	SNRNP200 (V1389I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 500139	NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1284430	NM_014014.5(SNRNP200):c.3614C>T (p.Thr1205Met)	SNRNP200 (T1205M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774164	NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 167714	NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala)	SNRNP200 (T934A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1166808	NM_014014.5(SNRNP200):c.1203+9C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 193702	NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val)	SNRNP200 (M387V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 853273	NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly)	SNRNP200 (D193G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 708634	NM_014014.5(SNRNP200):c.90G>C (p.Arg30=)	SNRNP200	Single nucleotide variant (synonymous variant)	SNRNP200-related disorder +2 more	GBenign/Likely benign