"Ambry Genetics"[submitter] AND "COL6A1"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946450	NM_001848.3(COL6A1):c.68C>T (p.Pro23Leu)	COL6A1 (P23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2266603	NM_001848.3(COL6A1):c.166G>A (p.Gly56Arg)	COL6A1 (G56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538601	NM_001848.3(COL6A1):c.208A>G (p.Ile70Val)	COL6A1 (I70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276834	NM_001848.3(COL6A1):c.262G>T (p.Ala88Ser)	COL6A1 (A88S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381099	NM_001848.3(COL6A1):c.316A>G (p.Met106Val)	COL6A1 (M106V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 596069	NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)	COL6A1 (D118N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 543001	NM_001848.3(COL6A1):c.621C>A (p.His207Gln)	COL6A1 (H207Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2290622	NM_001848.3(COL6A1):c.629G>A (p.Arg210Gln)	COL6A1 (R210Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1000898	NM_001848.3(COL6A1):c.670G>A (p.Ala224Thr)	COL6A1 (A224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 284383	NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg)	COL6A1 (G269R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 520716	NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)	COL6A1 (G275V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
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 1435417	NM_001848.3(COL6A1):c.920G>A (p.Arg307His)	COL6A1 (R307H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2281901	NM_001848.3(COL6A1):c.926A>G (p.Glu309Gly)	COL6A1 (E309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 282116	NM_001848.3(COL6A1):c.997G>A (p.Val333Met)	COL6A1 (V333M)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 281934	NM_001848.3(COL6A1):c.1015T>C (p.Tyr339His)	COL6A1 (Y339H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2622021	NM_001848.3(COL6A1):c.1018C>T (p.Pro340Ser)	COL6A1 (P340S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539758	NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)	COL6A1 (F367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 648452	NM_001848.3(COL6A1):c.1160G>A (p.Ser387Asn)	COL6A1 (S387N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2595600	NM_001848.3(COL6A1):c.1180G>A (p.Glu394Lys)	COL6A1 (E394K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520642	NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)	COL6A1 (G419S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 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 281119	NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)	COL6A1 (R433Q)	Single nucleotide variant (missense variant)	not specified +4 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 476411	NM_001848.3(COL6A1):c.1379T>C (p.Val460Ala)	COL6A1 (V460A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1035827	NM_001848.3(COL6A1):c.1402G>A (p.Glu468Lys)	COL6A1 (E468K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 195952	NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)	COL6A1 (I562V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 941515	NM_001848.3(COL6A1):c.1790T>G (p.Leu597Trp)	COL6A1 (L597W)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2037773	NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)	COL6A1 (M601V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 282543	NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr)	COL6A1 (K610T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 501783	NM_001848.3(COL6A1):c.1830G>T (p.Lys610Asn)	COL6A1 (K610N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2261710	NM_001848.3(COL6A1):c.1927G>A (p.Asp643Asn)	COL6A1 (D643N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 857240	NM_001848.3(COL6A1):c.1940G>A (p.Arg647Gln)	COL6A1 (R647Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 1027968	NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys)	COL6A1 (E654K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 661806	NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp)	COL6A1 (G661D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 707339	NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val)	COL6A1 (I681V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 285997	NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu)	COL6A1 (P716L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 520643	NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala)	COL6A1 (T734A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 1004927	NM_001848.3(COL6A1):c.2239C>G (p.Pro747Ala)	COL6A1 (P747A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1485107	NM_001848.3(COL6A1):c.2338T>C (p.Ser780Pro)	COL6A1 (S780P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 1421093	NM_001848.3(COL6A1):c.2366T>C (p.Val789Ala)	COL6A1 (V789A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2293990	NM_001848.3(COL6A1):c.2518G>T (p.Val840Leu)	COL6A1 (V840L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2141838	NM_001848.3(COL6A1):c.2554G>A (p.Ala852Thr)	COL6A1 (A852T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 1428029	NM_001848.3(COL6A1):c.2560C>T (p.Arg854Cys)	COL6A1 (R854C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 498340	NM_001848.3(COL6A1):c.2561G>A (p.Arg854His)	COL6A1 (R854H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2265647	NM_001848.3(COL6A1):c.2566G>T (p.Ala856Ser)	COL6A1 (A856S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2068560	NM_001848.3(COL6A1):c.2572C>T (p.Arg858Cys)	COL6A1 (R858C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 500366	NM_001848.3(COL6A1):c.2585C>T (p.Ala862Val)	COL6A1 (A862V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287792	NM_001848.3(COL6A1):c.2611G>A (p.Val871Met)	COL6A1 (V871M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 162529	NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)	COL6A1 (S879G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 284129	NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp)	COL6A1 (R888W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 497568	NM_001848.3(COL6A1):c.2785G>A (p.Glu929Lys)	COL6A1 (E929K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 592517	NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)	COL6A1 (G933S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 285447	NM_001848.3(COL6A1):c.2800G>A (p.Ala934Thr)	COL6A1 (A934T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 196948	NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe)	COL6A1 (L941F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2314395	NM_001848.3(COL6A1):c.2846G>C (p.Gly949Ala)	COL6A1 (G949A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1989098	NM_001848.3(COL6A1):c.2846G>A (p.Gly949Asp)	COL6A1 (G949D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 972584	NM_001848.3(COL6A1):c.2885C>G (p.Ala962Gly)	COL6A1 (A962G)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 284124	NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp)	COL6A1 (R964W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 971268	NM_001848.3(COL6A1):c.2896G>A (p.Gly966Ser)	COL6A1 (G966S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 835863	NM_001848.3(COL6A1):c.2951G>A (p.Arg984His)	COL6A1 (R984H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1401021	NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln)	COL6A1 (H1002Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1023300	NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys)	COL6A1 (R1005C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286582	NM_001848.3(COL6A1):c.3056A>G (p.Gln1019Arg)	COL6A1 (Q1019R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 67