ClinVar for MedGen (Select 468393) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 756

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068596	NM_001849.4(COL6A2):c.1865G>T (p.Ser622Ile)	COL6A2 (S622I)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 3062127	NM_004369.4(COL6A3):c.2803C>T (p.Arg935Trp)	COL6A3 (R328W +3 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 3062066	NM_004369.4(COL6A3):c.6156G>A (p.Lys2052=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GLikely pathogenic
Select item 1805296	NM_004369.4(COL6A3):c.4129G>T (p.Glu1377Ter)	COL6A3 (E1171* +3 more)	Single nucleotide variant (nonsense)	Collagen 6-related myopathy	GUncertain significance
Select item 1707195	NM_004369.4(COL6A3):c.6282+1G>C	COL6A3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1391450	NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)	COL6A1 (K61E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 1328167	NM_001848.3(COL6A1):c.824G>A (p.Gly275Glu)	COL6A1 (G275E)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GPathogenic
Select item 973308	NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)	COL6A2 (G358W)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GLikely pathogenic
Select item 957336	NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr)	COL6A3 (P1845T +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 899322	NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)	COL6A3 (H207Y)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 899264	NM_004369.4(COL6A3):c.1551C>G (p.Pro517=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 899210	NM_004369.4(COL6A3):c.2401G>A (p.Asp801Asn)	COL6A3 (D394N +2 more)	Single nucleotide variant (missense variant +1 more)	Collagen 6-related myopathy	GUncertain significance
Select item 899209	NM_004369.4(COL6A3):c.2523C>T (p.Leu841=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 899142	NM_004369.4(COL6A3):c.3696G>A (p.Arg1232=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 899127	NM_001849.4(COL6A2):c.1661A>G (p.Lys554Arg)	COL6A2 (K554R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899090	NM_004369.4(COL6A3):c.4285+13C>T	COL6A3 (A1026V +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 899089	NM_004369.4(COL6A3):c.4285+14G>A	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 899088	NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly)	COL6A3 (S853G +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 899087	NM_004369.4(COL6A3):c.4468C>T (p.Leu1490=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 899069	NM_001849.4(COL6A2):c.1117-14G>A	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GBenign/Likely benign
Select item 899068	NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)	COL6A2 (R366Q)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 899021	NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val)	COL6A3 (E1200V +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 899020	NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)	COL6A3 (F1637S +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 898953	NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)	COL6A3 (A2002T +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 898952	NM_004369.4(COL6A3):c.6818G>C (p.Gly2273Ala)	COL6A3 (G2273A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 898921	NM_001848.3(COL6A1):c.*447T>C	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898882	NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met)	COL6A3 (T2583M +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 898862	NM_001848.3(COL6A1):c.2886C>T (p.Ala962=)	COL6A1	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GBenign
Select item 898730	NM_001848.3(COL6A1):c.1740+13G>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 898665	NM_001848.3(COL6A1):c.1167A>C (p.Gly389=)	COL6A1	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GBenign
Select item 898608	NM_001848.3(COL6A1):c.583C>G (p.His195Asp)	COL6A1 (H195D)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898264	NM_001849.3(COL6A2):c.*303G>A	COL6A2	Single nucleotide variant	Collagen 6-related myopathy	GBenign
Select item 898263	NM_001849.4(COL6A2):c.*296A>G	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898262	NM_001849.4(COL6A2):c.*219C>T	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898261	NM_001849.4(COL6A2):c.*203G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 898260	NM_001849.4(COL6A2):c.*148G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898215	NM_004369.4(COL6A3):c.807T>C (p.Leu269=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Collagen 6-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 898163	NM_004369.4(COL6A3):c.1728C>A (p.Ser576Arg)	COL6A3 (S169R +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898089	NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)	COL6A3 (R282C +3 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 898088	NM_004369.4(COL6A3):c.2706T>C (p.Leu902=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898087	NM_004369.4(COL6A3):c.2938C>A (p.Pro980Thr)	COL6A3 (P573T +3 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898028	NM_004369.4(COL6A3):c.3789C>T (p.Asp1263=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898027	NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 898026	NM_004369.4(COL6A3):c.3874A>G (p.Lys1292Glu)	COL6A3 (K1086E +3 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 898007	NM_001849.4(COL6A2):c.1522-7C>T	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GLikely benign
Select item 897952	NM_004369.4(COL6A3):c.4777G>T (p.Val1593Phe)	COL6A3 (V986F +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897931	NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)	COL6A2 (D315N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 897849	NM_001849.4(COL6A2):c.300C>G (p.His100Gln)	COL6A2 (H100Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 897800	NM_004369.4(COL6A3):c.6879+13C>T	COL6A3	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GLikely benign
Select item 897777	NM_001848.3(COL6A1):c.*369C>T	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897776	NM_001848.3(COL6A1):c.*343G>C	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897704	NM_001848.3(COL6A1):c.2798G>A (p.Gly933Asp)	COL6A1 (G933D)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897703	NM_001848.3(COL6A1):c.2745C>T (p.Asp915=)	COL6A1	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +1 more	GLikely benign
Select item 897652	NM_004369.4(COL6A3):c.8954C>G (p.Thr2985Ser)	COL6A3 (T2378S +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897630	NM_001848.3(COL6A1):c.2030G>A (p.Arg677His)	COL6A1 (R677H)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897589	NM_004369.4(COL6A3):c.*51C>G	COL6A3, LOC126806573	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897588	NM_004369.4(COL6A3):c.*615G>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 897510	NM_001848.3(COL6A1):c.1057-14C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 897509	NM_001848.3(COL6A1):c.1002+6T>C	COL6A1	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 897097	NM_001848.3(COL6A1):c.1366A>G (p.Arg456Gly)	COL6A1 (R456G)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GLikely benign
Select item 897031	NM_001848.3(COL6A1):c.903+13C>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GBenign
Select item 896951	NM_001848.3(COL6A1):c.228-7C>T	COL6A1	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GUncertain significance
Select item 896950	NM_001848.3(COL6A1):c.227+11C>T	COL6A1	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +1 more	GConflicting classifications of pathogenicity
Select item 896659	NM_004369.4(COL6A3):c.-88A>G	COL6A3	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896626	NM_001849.4(COL6A2):c.*105C>G	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896625	NM_001849.4(COL6A2):c.*103G>A	COL6A2	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896590	NM_004369.4(COL6A3):c.1125C>T (p.Phe375=)	COL6A3	Single nucleotide variant (synonymous variant +1 more)	Collagen 6-related myopathy	GUncertain significance
Select item 896518	NM_001849.4(COL6A2):c.2424C>T (p.Asp808=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896444	NM_001849.4(COL6A2):c.1886C>A (p.Thr629Asn)	COL6A2 (T629N)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896443	NM_001849.4(COL6A2):c.1829G>A (p.Arg610His)	COL6A2 (R610H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 896442	NM_001849.4(COL6A2):c.1793T>C (p.Val598Ala)	COL6A2 (V598A)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896379	NM_001849.4(COL6A2):c.1396-11C>T	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896331	NM_004369.4(COL6A3):c.4973T>C (p.Val1658Ala)	COL6A3 (V1051A +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896330	NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val)	COL6A3 (D1489V +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 896329	NM_004369.4(COL6A3):c.5092A>G (p.Thr1698Ala)	COL6A3 (T1698A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896313	NM_001849.4(COL6A2):c.714+13C>T	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896268	NM_004369.4(COL6A3):c.5924G>T (p.Arg1975Leu)	COL6A3 (R1769L +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896267	NM_004369.4(COL6A3):c.6146T>G (p.Ile2049Ser)	COL6A3 (I2049S +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
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 896242	NM_001849.4(COL6A2):c.-76T>C	COL6A2, LOC121853033	Single nucleotide variant (5 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896241	NM_001848.3(COL6A1):c.*923G>A	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 896177	NM_001848.3(COL6A1):c.*236G>A	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896176	NM_001848.3(COL6A1):c.*171C>T	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896175	NM_001848.3(COL6A1):c.*146G>A	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896174	NM_001848.3(COL6A1):c.*138G>A	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 896062	NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly)	COL6A3 (R2805G +2 more)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +1 more	GBenign
Select item 895964	NM_001848.3(COL6A1):c.*675G>A	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895918	NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895894	NM_001848.3(COL6A1):c.*78G>A	COL6A1	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895893	NM_001848.3(COL6A1):c.3014G>A (p.Arg1005His)	COL6A1 (R1005H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 895892	NM_001848.3(COL6A1):c.2917G>T (p.Val973Phe)	COL6A1 (V973F)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GLikely benign
Select item 895857	NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 895830	NM_001848.3(COL6A1):c.2524A>G (p.Ser842Gly)	COL6A1 (S842G)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895829	NM_001848.3(COL6A1):c.2465-13C>T	COL6A1	Single nucleotide variant (intron variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895760	NM_001848.3(COL6A1):c.1822+11G>A	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 895759	NM_001848.3(COL6A1):c.1785G>A (p.Glu595=)	COL6A1	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895758	NM_001848.3(COL6A1):c.1777-9C>T	COL6A1	Single nucleotide variant (intron variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895623	NM_001848.3(COL6A1):c.884T>A (p.Val295Asp)	COL6A1 (V295D)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895622	NM_001848.3(COL6A1):c.826C>T (p.Leu276Phe)	COL6A1 (L276F)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 895621	NM_001848.3(COL6A1):c.759+13C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 8