"PreventionGenetics, part of Exact Sciences"[submitter] AND "MSC-AS1"[ - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342276	NM_007332.3(TRPA1):c.3053A>G (p.His1018Arg)	MSC-AS1, TRPA1 (H1018R)	Single nucleotide variant (missense variant)	TRPA1-related disorder +1 more	GBenign
Select item 3025034	NM_007332.3(TRPA1):c.3052-6C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1711678	NM_007332.3(TRPA1):c.2986C>T (p.Arg996Cys)	MSC-AS1, TRPA1 (R996C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1701549	NM_007332.3(TRPA1):c.2886C>T (p.Gly962=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3054882	NM_007332.3(TRPA1):c.2814T>C (p.Phe938=)	LOC126860417, MSC-AS1 +1 more	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3058634	NM_007332.3(TRPA1):c.2592G>A (p.Glu864=)	LOC126860417, MSC-AS1 +1 more	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3057268	NM_007332.3(TRPA1):c.2555+10G>A	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related disorder	GLikely benign
Select item 3056632	NM_007332.3(TRPA1):c.2490G>A (p.Leu830=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 3052127	NM_007332.3(TRPA1):c.2442G>A (p.Thr814=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 3045549	NM_007332.3(TRPA1):c.2124C>T (p.Leu708=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3033490	NM_007332.3(TRPA1):c.2046G>A (p.Pro682=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3047285	NM_007332.3(TRPA1):c.1917T>C (p.Asp639=)	MSC-AS1, TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3055480	NM_007332.3(TRPA1):c.1812-3C>T	MSC-AS1, TRPA1	Single nucleotide variant (intron variant)	TRPA1-related disorder	GBenign
Select item 3044169	NM_007332.3(TRPA1):c.1434T>G (p.Gly478=)	MSC-AS1, TRPA1	Single nucleotide variant (non-coding transcript variant +1 more)	TRPA1-related disorder	GLikely benign
Select item 3059579	NM_007332.3(TRPA1):c.1195-8del	MSC-AS1, TRPA1	Deletion (non-coding transcript variant +1 more)	TRPA1-related disorder	GBenign