"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL6A3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288944	NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)	COL6A3 (E2746K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 128822	NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)	COL6A3 (A2670V +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 94991	NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)	COL6A3 (R2549W +4 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 385843	NM_004369.4(COL6A3):c.6592-16A>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 289646	NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)	COL6A3 (P1942L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193877	NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)	COL6A3 (I1781V +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 94942	NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)	COL6A3 (P1080S +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 94941	NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)	COL6A3 (R1426Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 476523	NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)	COL6A3 (I1437F +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 94931	NM_004369.4(COL6A3):c.4285+17G>A	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 94929	NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)	COL6A3 (R788Q +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 235302	NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)	COL6A3 (R1395W +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GBenign/Likely benign
Select item 284966	NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)	COL6A3 (I1167F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 289937	NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)	COL6A3 (R1075W +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 94918	NM_004369.4(COL6A3):c.3071-16G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 288419	NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)	COL6A3 (G1019R +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 162547	NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)	COL6A3 (K1014E +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +5 more	GConflicting classifications of pathogenicity
Select item 259296	NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 1004320	NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)	COL6A3 (A217V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 94902	NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A +6 more	GBenign/Likely benign
Select item 282445	NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)	COL6A3 (A320T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1367714	NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)	COL6A3 (Q304R +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 288686	NM_004369.4(COL6A3):c.709+8C>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity

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Items: 23