Related gene-specific medical variations for Gene (Select 1291) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248166	NC_000021.8:g.(?_47405667)_(47407547_?)del	COL6A1	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248165	NC_000021.8:g.(?_47407504)_(47421320_?)dup	COL6A1	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248164	NC_000021.8:g.(?_47422421)_(47423927_?)del	COL6A1	Deletion	Bethlem myopathy 1A	GUncertain significance
Select item 3238762	NM_001848.3(COL6A1):c.1776+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2688833	NM_001848.3(COL6A1):c.1720C>T (p.Arg574Trp)	COL6A1 (R574W)	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 2688831	NM_001848.3(COL6A1):c.1442A>T (p.Glu481Val)	COL6A1 (E481V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688830	NM_001848.3(COL6A1):c.1398+3A>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2664342	NM_001848.3:c.19dup	COL6A1	Duplication	Bethlem myopathy 1A	GLikely pathogenic
Select item 2440371	NM_001848.3(COL6A1):c.2894C>T (p.Ala965Val)	COL6A1 (A965V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440369	NM_001848.3(COL6A1):c.2810A>G (p.Lys937Arg)	COL6A1 (K937R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440367	NM_001848.3(COL6A1):c.2227G>A (p.Val743Met)	COL6A1 (V743M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440366	NM_001848.3(COL6A1):c.2354G>A (p.Gly785Asp)	COL6A1 (G785D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2440363	NM_001848.3(COL6A1):c.388_399del (p.Asp130_Ile133del)	COL6A1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2440362	NM_001848.3(COL6A1):c.2645G>T (p.Gly882Val)	COL6A1 (G882V)	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 2440360	NM_001848.3(COL6A1):c.1427G>C (p.Gly476Ala)	COL6A1 (G476A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440359	NM_001848.3(COL6A1):c.2924del (p.Gly975fs)	COL6A1 (G975fs)	Deletion (frameshift variant)	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 2440357	NM_001848.3(COL6A1):c.2018A>G (p.His673Arg)	COL6A1 (H673R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2440351	NM_001848.3(COL6A1):c.215A>C (p.Asn72Thr)	COL6A1 (N72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2440349	NM_001848.3(COL6A1):c.2808G>T (p.Lys936Asn)	COL6A1 (K936N)	Single nucleotide variant (missense variant)	not provided	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 2440346	NM_001848.3(COL6A1):c.1583C>T (p.Pro528Leu)	COL6A1 (P528L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440345	NM_001848.3(COL6A1):c.1525-3del	COL6A1	Deletion (intron variant)	not provided	GUncertain significance
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 2440343	NM_001848.3(COL6A1):c.475G>T (p.Gly159Trp)	COL6A1 (G159W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440342	NM_001848.3(COL6A1):c.2927G>T (p.Arg976Leu)	COL6A1 (R976L)	Single nucleotide variant (missense variant)	not provided	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 2440339	NM_001848.3(COL6A1):c.3044G>A (p.Gly1015Asp)	COL6A1 (G1015D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440338	NM_001848.3(COL6A1):c.2904G>C (p.Glu968Asp)	COL6A1 (E968D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2439438	NM_001848.3(COL6A1):c.968G>A (p.Gly323Asp)	COL6A1 (G323D)	Single nucleotide variant (missense variant)	not provided	GLikely 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 1324134	NM_001848.3(COL6A1):c.227+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1324133	NM_001848.3(COL6A1):c.1042_1043dup (p.Pro349fs)	COL6A1 (P349fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 1324129	NM_001848.3(COL6A1):c.1002+1G>C	COL6A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1324128	NM_001848.3(COL6A1):c.108_115del (p.Asp37fs)	COL6A1 (D37fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322141	NM_001848.3(COL6A1):c.1612-1G>A	COL6A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1322140	NM_001848.3(COL6A1):c.904-1G>T	COL6A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 994244	NM_001848.3(COL6A1):c.165C>G (p.Tyr55Ter)	COL6A1 (Y55*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 930873	NM_001848.3(COL6A1):c.717+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 258304	NM_001848.3(COL6A1):c.717+33G>A	COL6A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258297	NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu)	COL6A1 (P827L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 258292	NM_001848.3(COL6A1):c.1674+46_1674+47dup	COL6A1	Duplication (intron variant)	not specified	GBenign
Select item 258291	NM_001848.3(COL6A1):c.1674+15G>A	COL6A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258289	NM_001848.3(COL6A1):c.1611+48C>T	COL6A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258284	NM_001848.3(COL6A1):c.1186C>G (p.Gln396Glu)	COL6A1 (Q396E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 258282	NM_001848.3(COL6A1):c.-8C>A	COL6A1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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Links from Gene

Items: 53