"Revvity Omics, Revvity"[submitter] AND "COL6A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499198	NM_001848.3(COL6A1):c.-1C>T	COL6A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 288943	NM_001848.3(COL6A1):c.74C>A (p.Thr25Asn)	COL6A1 (T25N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440364	NM_001848.3(COL6A1):c.77C>T (p.Pro26Leu)	COL6A1 (P26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 568846	NM_001848.3(COL6A1):c.85G>A (p.Val29Met)	COL6A1 (V29M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440341	NM_001848.3(COL6A1):c.93C>A (p.Phe31Leu)	COL6A1 (F31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497304	NM_001848.3(COL6A1):c.98-3C>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1324128	NM_001848.3(COL6A1):c.108_115del (p.Asp37fs)	COL6A1 (D37fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 195150	NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	COL6A1 (R68C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2440351	NM_001848.3(COL6A1):c.215A>C (p.Asn72Thr)	COL6A1 (N72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324134	NM_001848.3(COL6A1):c.227+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 284567	NM_001848.3(COL6A1):c.285C>G (p.Asp95Glu)	COL6A1 (D95E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 285070	NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)	COL6A1 (T104M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418910	NM_001848.3(COL6A1):c.329G>A (p.Arg110His)	COL6A1 (R110H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 571067	NM_001848.3(COL6A1):c.331G>A (p.Asp111Asn)	COL6A1 (D111N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 647619	NM_001848.3(COL6A1):c.334G>A (p.Ala112Thr)	COL6A1 (A112T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 596069	NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)	COL6A1 (D118N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 598491	NM_001848.3(COL6A1):c.355G>A (p.Ala119Thr)	COL6A1 (A119T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 17173	NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)	COL6A1	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 288282	NM_001848.3(COL6A1):c.379A>G (p.Thr127Ala)	COL6A1 (T127A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440363	NM_001848.3(COL6A1):c.388_399del (p.Asp130_Ile133del)	COL6A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2440358	NM_001848.3(COL6A1):c.403A>C (p.Lys135Gln)	COL6A1 (K135Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440343	NM_001848.3(COL6A1):c.475G>T (p.Gly159Trp)	COL6A1 (G159W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005149	NM_001848.3(COL6A1):c.518A>T (p.Glu173Val)	COL6A1 (E173V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440348	NM_001848.3(COL6A1):c.520G>T (p.Asp174Tyr)	COL6A1 (D174Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283031	NM_001848.3(COL6A1):c.539A>G (p.Lys180Arg)	COL6A1 (K180R)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 2420964	NM_001848.3(COL6A1):c.543C>G (p.His181Gln)	COL6A1 (H181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 281830	NM_001848.3(COL6A1):c.548G>A (p.Gly183Asp)	COL6A1 (G183D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 543000	NM_001848.3(COL6A1):c.554A>G (p.Lys185Arg)	COL6A1 (K185R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500103	NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)	COL6A1 (P198L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197731	NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys)	COL6A1 (R199C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2142426	NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)	COL6A1 (I202V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 449647	NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)	COL6A1 (T205M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440350	NM_001848.3(COL6A1):c.617A>G (p.Asp206Gly)	COL6A1 (D206G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284064	NM_001848.3(COL6A1):c.623C>T (p.Thr208Met)	COL6A1 (T208M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 500725	NM_001848.3(COL6A1):c.628C>T (p.Arg210Trp)	COL6A1 (R210W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429802	NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)	COL6A1 (R211C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2440337	NM_001848.3(COL6A1):c.650A>C (p.Asp217Ala)	COL6A1 (D217A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688832	NM_001848.3(COL6A1):c.663C>G (p.Ser221Arg)	COL6A1 (S221R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285060	NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)	COL6A1 (D223N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 284826	NM_001848.3(COL6A1):c.717+4A>G	COL6A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286139	NM_001848.3(COL6A1):c.726C>T (p.Asn242=)	COL6A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1041426	NM_001848.3(COL6A1):c.739-5C>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 283242	NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)	COL6A1 (E251K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 283762	NM_001848.3(COL6A1):c.763G>A (p.Ala255Thr)	COL6A1 (A255T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324131	NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg)	COL6A1 (G257R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 845720	NM_001848.3(COL6A1):c.785G>A (p.Arg262Gln)	COL6A1 (R262Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286252	NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)	COL6A1 (G263D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 340309	NM_001848.3(COL6A1):c.794C>T (p.Pro265Leu)	COL6A1 (P265L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 93894	NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	COL6A1	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 93895	NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 93896	NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)	COL6A1	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 596078	NM_001848.3(COL6A1):c.903+1G>T	COL6A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1A +1 more	GPathogenic
Select item 1322140	NM_001848.3(COL6A1):c.904-1G>T	COL6A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 283690	NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)	COL6A1 (G305E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 289651	NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)	COL6A1 (G311D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 2439429	NM_001848.3(COL6A1):c.957+2T>G	COL6A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2155273	NM_001848.3(COL6A1):c.958-3_958-2del	COL6A1	Microsatellite (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 2439438	NM_001848.3(COL6A1):c.968G>A (p.Gly323Asp)	COL6A1 (G323D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1324129	NM_001848.3(COL6A1):c.1002+1G>C	COL6A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 287971	NM_001848.3(COL6A1):c.1002+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 476406	NM_001848.3(COL6A1):c.1003-2del	COL6A1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 286179	NM_001848.3(COL6A1):c.1003-1G>A	COL6A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 194366	NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)	COL6A1 (G338E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286146	NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)	COL6A1 (G341C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic
Select item 1324133	NM_001848.3(COL6A1):c.1042_1043dup (p.Pro349fs)	COL6A1 (P349fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1322138	NM_001848.3(COL6A1):c.1056+1G>C	COL6A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 17174	NM_001848.3(COL6A1):c.1056+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	Abnormality of the musculature +3 more	GPathogenic/Likely pathogenic
Select item 286598	NM_001848.3(COL6A1):c.1056+4A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2440352	NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)	COL6A1 (G359D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 284829	NM_001848.3(COL6A1):c.1096G>A (p.Ala366Thr)	COL6A1 (A366T)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 282894	NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)	COL6A1 (E372G)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 972366	NM_001848.3(COL6A1):c.1145C>T (p.Ala382Val)	COL6A1 (A382V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324135	NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)	COL6A1 (G389A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1492057	NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)	COL6A1 (A409V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 572408	NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn)	COL6A1 (D411N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440353	NM_001848.3(COL6A1):c.1255G>T (p.Gly419Cys)	COL6A1 (G419C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440361	NM_001848.3(COL6A1):c.1273-3C>T	COL6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1324130	NM_001848.3(COL6A1):c.1283G>C (p.Gly428Ala)	COL6A1 (G428A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 567105	NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr)	COL6A1 (P432T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 947379	NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp)	COL6A1 (R433W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 809302	NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met)	COL6A1 (T438M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 1020530	NM_001848.3(COL6A1):c.1330G>C (p.Asp444His)	COL6A1 (D444H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 287756	NM_001848.3(COL6A1):c.1349C>T (p.Pro450Leu)	COL6A1 (P450L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284265	NM_001848.3(COL6A1):c.1352A>G (p.Gln451Arg)	COL6A1 (Q451R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2440368	NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)	COL6A1 (R456K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 162528	NM_001848.3(COL6A1):c.1378G>A (p.Val460Ile)	COL6A1 (V460I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2688830	NM_001848.3(COL6A1):c.1398+3A>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 281741	NM_001848.3(COL6A1):c.1399-3C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 2440344	NM_001848.3(COL6A1):c.1402G>C (p.Glu468Gln)	COL6A1 (E468Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440360	NM_001848.3(COL6A1):c.1427G>C (p.Gly476Ala)	COL6A1 (G476A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688831	NM_001848.3(COL6A1):c.1442A>T (p.Glu481Val)	COL6A1 (E481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598000	NM_001848.3(COL6A1):c.1451C>T (p.Pro484Leu)	COL6A1 (P484L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 500505	NM_001848.3(COL6A1):c.1461G>C (p.Glu487Asp)	COL6A1 (E487D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283415	NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)	COL6A1 (P493T)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GUncertain significance
Select item 2440345	NM_001848.3(COL6A1):c.1525-3del	COL6A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 476416	NM_001848.3(COL6A1):c.1540G>A (p.Ala514Thr)	COL6A1 (A514T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1322142	NM_001848.2(COL6A1):c.1568_1575+1dup	COL6A1	Microsatellite	not provided +1 more	GConflicting classifications of pathogenicity
Select item 937860	NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)	COL6A1 (Y527C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440346	NM_001848.3(COL6A1):c.1583C>T (p.Pro528Leu)	COL6A1 (P528L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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