Variant	Impact	Inheritance pattern	Summary	Genomes

COL6A1 L8R	insufficiently evaluated not reviewed	unknown		CGI sample GS000006909
COL6A1 L10V	insufficiently evaluated not reviewed	unknown		CGI sample GS000006909
COL6A1 S116N	insufficiently evaluated benign, f=0.041	dominant	This variant was initially reported causative for Bethlem Myopathy after it was found in three individuals. Later studies find it with an allelic frequency of 0.01, however.	var-GS18942-1100-36-ASM
				CGI sample GS00253-DNA_A01_200_37
				CGI sample GS01669-DNA_D02 from PGP sample 27316983
				CGI sample GS00253-DNA_C01_200_37
				var-GS19669-1100-36-ASM
				var-GS06985-1100-36-ASM
COL6A1 K121R	insufficiently evaluated pathogenic	unknown	(12 web hits)
COL6A1 D223N	insufficiently evaluated not reviewed	unknown		CGI sample GS01669-DNA_D02 from PGP sample 27316983
COL6A1 G284R	insufficiently evaluated pathogenic	unknown	(7 web hits)
COL6A1 G286V	insufficiently evaluated pathogenic	unknown	(3 web hits)
COL6A1 G290R	insufficiently evaluated pathogenic	unknown	(1 web hit)
COL6A1 G341D	insufficiently evaluated pathogenic	unknown	(10 web hits)
COL6A1 A382T	insufficiently evaluated not reviewed	unknown		CGI sample GS01173-DNA_H06 from PGP sample 91708424
COL6A1 R433Q	insufficiently evaluated not reviewed, f=0.001	unknown		var-GS06985-1100-36-ASM
COL6A1 R439Q	insufficiently evaluated none, f=0.007	unknown		var-GS19834-1100-36-ASM
COL6A1 R439Q	insufficiently evaluated none, f=0.007	unknown		var-GS19239-1100-36-ASM
COL6A1 P655A	insufficiently evaluated none	unknown
COL6A1 Y659X	insufficiently evaluated pathogenic	unknown	(1 web hit)
COL6A1 I681T	insufficiently evaluated not reviewed, f=0.014	unknown		var-GS18504-1100-36-ASM
COL6A1 K814R	insufficiently evaluated none, f=0.007	unknown		hu232307 build 36 substitution variants
COL6A1 K814R	insufficiently evaluated none, f=0.007	unknown		var-GS18940-1100-36-ASM (hom)
COL6A1 R850H	insufficiently evaluated none, f=0.341	unknown	(2 web hits)	CGI sample GS01173-DNA_C02 from PGP sample 10366372
				var-GS19025-1100-36-ASM (hom)
				CGI sample GS01175-DNA_H01 from PGP sample 94797469
				hu34D5B9 exome
				CGI sample GS01669-DNA_C05 from PGP sample 42408046
				var-GS19020-1100-36-ASM
				CGI sample GS01173-DNA_F02 from PGP sample 70008981
				var-GS19700-1100-36-ASM
				var-GS18501-1100-36-ASM
				CGI sample GS000005532
				var-GS19703-1100-36-ASM
				hu232307 build 36 substitution variants
				CGI sample GS00253-DNA_G01_200_37
				var-GS19701-1100-36-ASM
				CGI sample GS01175-DNA_A04 from PGP sample 13272228
				var-GS21767-1100-36-ASM
				CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
				var-GS19834-1100-36-ASM (hom)
				var-GS19239-1100-36-ASM
				var-GS19017-1100-36-ASM (hom)
				CGI sample GS01669-DNA_B05 from PGP sample 86486261
				var-GS19648-1100-36-ASM
				CGI sample GS00253-DNA_B02_200_37 (hom)
				CGI sample GS01669-DNA_H05 from PGP sample 10971581
				CGI sample GS01173-DNA_F06 from PGP sample 64191565
				CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
				CGI sample GS00253-DNA_F01_200_37
				var-GS19129-1100-36-ASM
				var-GS19240-1100-36-ASM
				var-GS18947-1100-36-ASM
				var-GS18505-1100-36-ASM
				var-GS19670-1100-36-ASM
				CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
				CGI sample GS01173-DNA_A07 from PGP sample 96240009
				var-GS18508-1100-36-ASM
				var-GS19669-1100-36-ASM
				var-GS19026-1100-36-ASM
				var-GS20509-1100-36-ASM (hom)
				var-GS18940-1100-36-ASM (hom)
COL6A1 S890L	insufficiently evaluated not reviewed, f=0.159	unknown	(3 web hits)	CGI sample GS01173-DNA_C02 from PGP sample 10366372
				hu34D5B9 exome
				hu3215A7 build 36 substitution variants
				var-GS18942-1100-36-ASM
				CGI sample GS01669-DNA_C05 from PGP sample 42408046
				CGI sample GS000006909
				var-GS07357-1100-36-ASM
				var-GS12004-1100-36-ASM
				CGI sample GS01173-DNA_H06 from PGP sample 91708424
				CGI sample GS00253-DNA_G01_200_37
				CGI sample GS01669-DNA_B05 from PGP sample 86486261
				var-GS20502-1100-36-ASM (hom)
				CGI sample GS01175-DNA_D01 from PGP sample 31286272
				hu728FFF build 36 substitution variants
				var-GS18947-1100-36-ASM
				CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
				var-GS19026-1100-36-ASM
				CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL6A1 A953T	insufficiently evaluated not reviewed, f=0.001	unknown		var-GS18508-1100-36-ASM
COL6A1 E956K	insufficiently evaluated not reviewed, f=0.001	unknown		CGI sample GS00253-DNA_D01_200_37
Page: 1 2 Total results: 20

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