"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL6A2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282475	NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)	COL6A2 (V57I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 93953	NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)	COL6A2 (E106K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 196330	NM_001849.4(COL6A2):c.510C>T (p.Cys170=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 844254	NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)	COL6A2 (P357L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 93904	NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 93934	NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 288586	NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)	COL6A2 (D751N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 262302	NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 162538	NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)	COL6A2 (R853Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 128815	NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	COL6A2, FTCD (A994T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 502086	NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)	COL6A2 (F1010C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GUncertain significance