"Clinical Genetics, Academic Medical Center"[submitter] AND "COL6A1"[g - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93792	NM_001848.3(COL6A1):c.-5C>G	COL6A1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 93872	NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)	COL6A1 (S116N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 93873	NM_001848.3(COL6A1):c.428+14A>G	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 93876	NM_001848.3(COL6A1):c.429-19G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93880	NM_001848.3(COL6A1):c.588+19dup	COL6A1	Duplication (intron variant)	not specified +3 more	GBenign
Select item 93879	NM_001848.3(COL6A1):c.588+13C>A	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 93887	NM_001848.3(COL6A1):c.739-51C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 17180	NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	COL6A1	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 93892	NM_001848.3(COL6A1):c.859-20C>T	COL6A1	Single nucleotide variant (intron variant)	not specified	GBenign/Likely benign
Select item 93891	NM_001848.3(COL6A1):c.859-19A>G	COL6A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93894	NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	COL6A1	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 93895	NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GPathogenic/Likely pathogenic
Select item 93897	NM_001848.3(COL6A1):c.903+14C>A	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 93898	NM_001848.3(COL6A1):c.958-17G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 17174	NM_001848.3(COL6A1):c.1056+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 93805	NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 93807	NM_001848.3(COL6A1):c.1120-12G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 162526	NM_001848.3(COL6A1):c.1182+3G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 93811	NM_001848.3(COL6A1):c.1335+27A>C	COL6A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 93815	NM_001848.3(COL6A1):c.1461+18C>A	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93821	NM_001848.3(COL6A1):c.1524+19G>C	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93841	NM_001848.3(COL6A1):c.1956+15C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93842	NM_001848.3(COL6A1):c.1957-11C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 93843	NM_001848.3(COL6A1):c.1957-5C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 93854	NM_001848.3(COL6A1):c.2434+15A>G	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 93857	NM_001848.3(COL6A1):c.2435-19C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 93859	NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg)	COL6A1	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 93861	NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)	COL6A1	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 93864	NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 93865	NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu)	COL6A1	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GBenign
Select item 93866	NM_001848.3(COL6A1):c.2736C>T (p.Asp912=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 93868	NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 93870	NM_001848.3(COL6A1):c.2796C>T (p.Ser932=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 340336	NM_001848.3(COL6A1):c.*260A>G	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy +1 more	GBenign
Select item 340342	NM_001848.3(COL6A1):c.*419A>G	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign

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Items: 35