COL6A2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1231952	NM_001849.4(COL6A2):c.-28+99T>C	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289874	NM_001849.4(COL6A2):c.-27-265G>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276414	NM_001849.4(COL6A2):c.-27-243C>A	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679204	NM_001849.4(COL6A2):c.-27-149C>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677612	NM_001849.4(COL6A2):c.-27-108G>C	COL6A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579226	GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1	COL6A2	Copy number loss	Bethlem myopathy 1A	GPathogenic
Select item 679820	NM_001849.4(COL6A2):c.-27-89G>A	COL6A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184572	NM_001849.4(COL6A2):c.-27-3C>G	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 3054140	NM_001849.4(COL6A2):c.-6G>T	COL6A2	Single nucleotide variant (5 prime UTR variant)	COL6A2-related disorder	GLikely benign
Select item 285809	NM_001849.4(COL6A2):c.-6G>A	COL6A2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2439448	NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)	COL6A2 (V8fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 583880	NC_000021.9:g.(?_46111477)_(46121123_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 846791	NM_001849.4(COL6A2):c.3G>A (p.Met1Ile)	COL6A2 (M1I)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A	GUncertain significance
Select item 3147683	NM_001849.4(COL6A2):c.5T>C (p.Leu2Pro)	COL6A2 (L2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1369388	NM_001849.4(COL6A2):c.12C>T (p.Gly4=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 285631	NM_001849.4(COL6A2):c.14C>T (p.Thr5Ile)	COL6A2 (T5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032775	NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser)	COL6A2 (C6S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1645790	NM_001849.4(COL6A2):c.21C>T (p.Ser7=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 195152	NM_001849.4(COL6A2):c.22G>A (p.Val8Met)	COL6A2 (V8M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2973558	NM_001849.4(COL6A2):c.27C>T (p.Leu9=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2883129	NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)	COL6A2 (L10R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1105390	NM_001849.4(COL6A2):c.33C>G (p.Leu11=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 896243	NM_001849.4(COL6A2):c.54C>G (p.Ile18Met)	COL6A2 (I18M)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 965496	NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr)	COL6A2 (A20T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1431362	NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg)	COL6A2 (Q21R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1445933	NM_001849.4(COL6A2):c.73G>A (p.Val25Ile)	COL6A2 (V25I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1626060	NM_001849.4(COL6A2):c.75C>T (p.Val25=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 653560	NM_001849.4(COL6A2):c.80C>T (p.Ser27Leu)	COL6A2 (S27L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 290722	NM_001849.4(COL6A2):c.81G>A (p.Ser27=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +4 more	GBenign/Likely benign
Select item 2255072	NM_001849.4(COL6A2):c.82C>G (p.Pro28Ala)	COL6A2 (P28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063857	NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)	COL6A2 (P28S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1434664	NM_001849.4(COL6A2):c.83C>T (p.Pro28Leu)	COL6A2 (P28L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 662829	NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg)	COL6A2 (P28R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 283330	NM_001849.4(COL6A2):c.84G>A (p.Pro28=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1635528	NM_001849.4(COL6A2):c.93C>T (p.Thr31=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 450298	NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)	COL6A2 (E32*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 290526	NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)	COL6A2 (E32K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1694468	NM_001849.4(COL6A2):c.101_104del (p.Asn34fs)	COL6A2 (N34fs)	Deletion (frameshift variant)	Bethlem myopathy 1A +2 more	GPathogenic
Select item 1912598	NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)	COL6A2 (N36del)	Microsatellite (inframe_indel +1 more)	not provided +1 more	GUncertain significance
Select item 1910613	NM_001849.4(COL6A2):c.102C>T (p.Asn34=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2664838	NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)	COL6A2 (N35K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1065448	NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)	COL6A2 (C37*)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1324140	NM_001849.4(COL6A2):c.115+2_115+8del	COL6A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1052814	NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser)	COL6A2 (P38S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 476449	NM_001849.4(COL6A2):c.115+2T>C	COL6A2	Single nucleotide variant (splice donor variant)	Collagen 6-related myopathy +2 more	GPathogenic/Likely pathogenic
Select item 284479	NM_001849.4(COL6A2):c.115+6del	COL6A2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284478	NM_001849.4(COL6A2):c.115+6A>G	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 288413	NM_001849.4(COL6A2):c.115+10G>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2719377	NM_001849.4(COL6A2):c.115+12C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1603869	NM_001849.4(COL6A2):c.115+19_115+25del	COL6A2	Microsatellite (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2963082	NM_001849.4(COL6A2):c.115+17del	COL6A2	Deletion (intron variant)	Bethlem myopathy 1A	GBenign
Select item 2046314	NM_001849.4(COL6A2):c.115+13G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2739168	NM_001849.4(COL6A2):c.115+16G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2037048	NM_001849.4(COL6A2):c.115+17G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2911034	NM_001849.4(COL6A2):c.115+19C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1589060	NM_001849.4(COL6A2):c.115+20G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 93901	NM_001849.4(COL6A2):c.116-34G>A	COL6A2	Single nucleotide variant (intron variant)	not specified	GBenign/Likely benign
Select item 2726936	NM_001849.4(COL6A2):c.116-14C>G	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 340359	NM_001849.4(COL6A2):c.116-11G>A	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 756183	NM_001849.4(COL6A2):c.116-8C>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 196332	NM_001849.4(COL6A2):c.116-7C>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 543008	NM_001849.4(COL6A2):c.116-6C>T	COL6A2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 642326	NM_001849.4(COL6A2):c.116-3C>T	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2440374	NM_001849.4(COL6A2):c.119A>C (p.Lys40Thr)	COL6A2 (K40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719291	NM_001849.4(COL6A2):c.120G>A (p.Lys40=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 594418	NM_001849.4(COL6A2):c.123C>T (p.Thr41=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2413536	NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)	COL6A2 (D42Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 476450	NM_001849.4(COL6A2):c.129C>T (p.Cys43=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1582735	NM_001849.4(COL6A2):c.132C>T (p.Pro44=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1512227	NM_001849.4(COL6A2):c.136C>T (p.His46Tyr)	COL6A2 (H46Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 282298	NM_001849.4(COL6A2):c.138C>T (p.His46=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 498068	NM_001849.4(COL6A2):c.139G>A (p.Val47Met)	COL6A2 (V47M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 1428920	NM_001849.4(COL6A2):c.140T>C (p.Val47Ala)	COL6A2 (V47A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1305016	NM_001849.4(COL6A2):c.143A>T (p.Tyr48Phe)	COL6A2 (Y48F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719174	NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)	COL6A2 (V50L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 162531	NM_001849.4(COL6A2):c.148G>A (p.Val50Met)	COL6A2 (V50M)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +1 more	GUncertain significance
Select item 1649231	NM_001849.4(COL6A2):c.150G>T (p.Val50=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2720633	NM_001849.4(COL6A2):c.153G>A (p.Leu51=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2779114	NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)	COL6A2 (D52G)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1591937	NM_001849.4(COL6A2):c.159C>G (p.Thr53=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1429561	NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu)	COL6A2 (S54L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 596924	NM_001849.4(COL6A2):c.162G>A (p.Ser54=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 476458	NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)	COL6A2 (S56N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1135762	NM_001849.4(COL6A2):c.168C>T (p.Ser56=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
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 1899261	NM_001849.4(COL6A2):c.174C>G (p.Thr58=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1314304	NM_001849.4(COL6A2):c.175A>C (p.Met59Leu)	COL6A2 (M59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285825	NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)	COL6A2 (M59T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1513873	NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro)	COL6A2 (Q60P)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 502140	NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro)	COL6A2 (S61P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 280188	NM_001849.4(COL6A2):c.186dup (p.Thr63fs)	COL6A2 (T63fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 707297	NM_001849.4(COL6A2):c.186C>A (p.Pro62=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 285361	NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)	COL6A2 (T63M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 286447	NM_001849.4(COL6A2):c.189G>A (p.Thr63=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 1160726	NM_001849.4(COL6A2):c.196C>T (p.Leu66=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1024988	NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe)	COL6A2 (L67F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 744109	NM_001849.4(COL6A2):c.201C>T (p.Leu67=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 1210052	NM_001849.4(COL6A2):c.202T>C (p.Phe68Leu)	COL6A2 (F68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724924	NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)	COL6A2 (H69Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1117702	NM_001849.4(COL6A2):c.207C>T (p.His69=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign

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