ClinVar for MedGen (Select 98046) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066269	NM_004369.4(COL6A3):c.5270A>C (p.Glu1757Ala)	COL6A3 (E1150A +4 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 2683839	NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)	COL6A2 (D712H)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 2674601	NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)	COL6A3 (G1473C +4 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2671676	NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)	COL6A3 (P2410fs +2 more)	Duplication (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2637655	NM_004369.4(COL6A3):c.6157-1G>A	COL6A3	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2627972	NM_001849.4(COL6A2):c.1179+1G>T	COL6A2	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2627517	NM_001848.3(COL6A1):c.1769G>A (p.Gly590Glu)	COL6A1 (G590E)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 2581198	NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del	COL6A3	Deletion	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2578456	NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)	COL6A3 (G1446D +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 2572201	NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)	COL6A2 (P341T)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2572026	NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val)	COL6A2 (L838V)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 2500715	NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)	COL6A3 (G1305A +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 2444174	NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)	COL6A1 (Y78*)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 2441705	NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)	COL6A3 (R1547* +4 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 2441647	NM_004369.4(COL6A3):c.9175del (p.Val3059fs)	COL6A3 (V2452fs +2 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1704544	NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)	COL6A3 (R1942* +4 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1694468	NM_001849.4(COL6A2):c.101_104del (p.Asn34fs)	COL6A2 (N34fs)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1A +2 more	GPathogenic
Select item 1691316	NM_001849.4(COL6A2):c.955-2A>C	COL6A2	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1A +1 more	GPathogenic
Select item 1691283	NM_004369.4(COL6A3):c.6283-2A>G	COL6A3, LOC122889011	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1A +1 more	GPathogenic
Select item 1683619	NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser)	COL6A3 (R268S +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1679826	NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)	COL6A3 (Y2085fs +2 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1679825	NM_001849.4(COL6A2):c.955-3C>G	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1679308	NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)	COL6A3 (L2221fs +2 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 1579567	NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
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 1367714	NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)	COL6A3 (Q304R +1 more)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 1339873	NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)	COL6A3 (L1304F +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1339177	NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp)	COL6A2 (G840D)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1333684	NM_001848.3(COL6A1):c.1813+2_1813+3del	COL6A1	Microsatellite (splice donor variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1299552	NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)	COL6A1 (C820*)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 1285560	NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg)	COL6A2 (G328R)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
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 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 1053785	NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)	COL6A2 (V951F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1032774	NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp)	COL6A1 (R27W)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1029383	NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)	COL6A2 (Q852*)	Single nucleotide variant (nonsense +2 more)	Ullrich congenital muscular dystrophy 1A	GPathogenic
Select item 1028739	NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)	COL6A3 (R1299L +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1027970	NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr)	COL6A1 (H1018Y)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1027969	NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr)	COL6A1 (S675T)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 1005304	NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	COL12A1 (R486W)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1004320	NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)	COL6A3 (A217V +1 more)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 1A +4 more	GConflicting classifications of pathogenicity
Select item 976375	NM_001849.4(COL6A2):c.928-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 973040	NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)	COL6A2 (E422K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 949905	NM_004370.6(COL12A1):c.8319+1G>C	COL12A1	Single nucleotide variant (splice donor variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic
Select item 943322	NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)	COL6A2	Microsatellite (nonsense)	Ullrich congenital muscular dystrophy 1A +1 more	GPathogenic
Select item 932713	NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)	COL6A3 (A1152G +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +2 more	GConflicting classifications of pathogenicity
Select item 931817	NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)	COL6A3 (G1023S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +1 more	GUncertain significance
Select item 931801	NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly)	COL6A3 (V1151G +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	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 930766	NM_004369.4(COL6A3):c.269A>T (p.Glu90Val)	COL6A3 (E90V)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 844254	NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)	COL6A2 (P357L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 843818	NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)	COL6A1 (G159R)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +1 more	GConflicting classifications of pathogenicity
Select item 840759	NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)	COL6A1 (R574Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 837724	NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)	COL6A1 (G287E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 744109	NM_001849.4(COL6A2):c.201C>T (p.Leu67=)	COL6A2	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 1A +1 more	GConflicting classifications of pathogenicity
Select item 665548	NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met)	COL6A3 (V657M +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 657581	NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys)	COL6A2 (R993C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 657156	NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)	COL6A1 (G296V)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +1 more	GPathogenic/Likely pathogenic
Select item 649663	NM_001848.3(COL6A1):c.2518G>A (p.Val840Met)	COL6A1 (V840M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 648076	NM_001848.3(COL6A1):c.1575+1G>A	COL6A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1A +2 more	GLikely pathogenic
Select item 638444	NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)	COL12A1 (R265C)	Single nucleotide variant (missense variant +1 more)	Bethlem myopathy 2 +2 more	GUncertain significance
Select item 635081	NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)	COL6A3 (R1984* +2 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A +2 more	GPathogenic/Likely pathogenic
Select item 635080	NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)	COL6A3 (R2444W +2 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +1 more	GUncertain significance
Select item 635019	NM_001848.3(COL6A1):c.904-39A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 634467	NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly)	COL6A2 (A690G)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GUncertain significance
Select item 632582	NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)	COL6A2 (E959K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 623127	NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys)	COL6A1 (G263C)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 617567	NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)	COL6A1 (P495S)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 595434	NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)	COL6A1 (D548fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 571080	NM_004369.4(COL6A3):c.6310-2A>G	COL6A3, LOC122889011	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 569036	NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)	COL6A2 (G371S)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +2 more	GConflicting classifications of pathogenicity
Select item 548596	NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)	COL6A3 (L746I +2 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 27 +2 more	GUncertain significance
Select item 548487	NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)	COL12A1 (A703V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 543025	NM_001848.3(COL6A1):c.1002+6_1002+88del	COL6A1	Deletion (splice donor variant)	COL6A1-related condition +1 more	GLikely benign
Select item 542998	NM_001848.3(COL6A1):c.930+189C>T	COL6A1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 522739	NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)	COL12A1 (I587T)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 502579	NM_001848.3(COL6A1):c.1741-6G>A	COL6A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502086	NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)	COL6A2 (F1010C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 499099	NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)	COL6A3 (A769V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499045	NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)	COL6A3 (R2136S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 497233	NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)	COL6A2 (R539*)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 1A +2 more	GPathogenic/Likely pathogenic
Select item 476523	NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)	COL6A3 (I1437F +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 476480	NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)	COL6A2 (L976S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 476434	NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)	COL6A1 (V971M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 449785	NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)	COL6A3 (D1074N +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +4 more	GConflicting classifications of pathogenicity
Select item 449325	NM_004369.4(COL6A3):c.6309+3A>G	COL6A3, LOC122889011	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419449	NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)	COL6A3 (R836* +3 more)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A +3 more	GPathogenic/Likely pathogenic
Select item 417888	NM_004369.4(COL6A3):c.7669-2del	COL6A3	Deletion (splice acceptor variant)	COL6A3-related condition	GPathogenic
Select item 385843	NM_004369.4(COL6A3):c.6592-16A>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 374143	NM_001849.4(COL6A2):c.736-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 335116	NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met)	COL6A3 (V1945M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 290491	NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)	COL6A2 (E529K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289937	NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)	COL6A3 (R1075W +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 289646	NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)	COL6A3 (P1942L +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 288944	NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)	COL6A3 (E2746K +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 288686	NM_004369.4(COL6A3):c.709+8C>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 288586	NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)	COL6A2 (D751N)	Single nucleotide variant (missense variant)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 288567	NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)	COL6A2 (A875T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 288503	NM_004369.4(COL6A3):c.6309+1G>T	COL6A3, LOC122889011	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 288419	NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)	COL6A3 (G1019R +3 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity

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