ClinVar for PubMed (Select 7695699) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075297	NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala)	COL3A1 (G1026A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 3071645	NM_000090.4(COL3A1):c.3364G>A (p.Gly1122Ser)	COL3A1 (G1122S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GUncertain significance
Select item 3022141	NM_000094.4(COL7A1):c.6458G>A (p.Gly2153Asp)	COL7A1 (G2153D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020769	NM_000094.4(COL7A1):c.3940_3963del (p.Gly1314_Ala1321del)	COL7A1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 3018864	NM_001845.6(COL4A1):c.1346G>C (p.Gly449Ala)	COL4A1, LOC126861856 (G449A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3017907	NM_033380.3(COL4A5):c.3310G>A (p.Gly1104Ser)	COL4A5 (G1104S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3009715	NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala)	COL3A1 (G531A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2998327	NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser)	COL2A1 (G228S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2991592	NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)	COL5A1 (G883S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2989965	NM_000094.4(COL7A1):c.5524G>A (p.Gly1842Arg)	COL7A1 (G1842R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982307	NM_001844.5(COL2A1):c.1403G>A (p.Gly468Asp)	COL2A1 (G399D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2953269	NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)	COL1A2 (G685C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2951624	NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)	COL1A2 (G769S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2951085	NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)	COL1A2 (G502D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2950794	NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)	COL1A2 (G109R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2950227	NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)	COL1A2 (G298V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2946497	NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)	COL1A2 (G1090S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2946398	NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)	COL1A2 (G331S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2945561	NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)	COL1A2 (G628D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 2945405	NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)	COL1A2	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 2945394	NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)	COL1A2 (G988C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2945135	NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)	COL1A2 (G592D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944354	NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)	COL1A2 (G103D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944253	NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)	COL1A2 (G1078V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944174	NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)	COL1A2 (G910D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2942532	NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)	COL1A2 (G727R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2942407	NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)	COL1A2 (G946A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2941684	NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)	COL1A2 (G229S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2935894	NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)	COL1A2 (G853A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2935057	NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)	COL1A2 (G220D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2930905	NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)	COL1A2 (G163V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2925415	NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)	COL1A2 (G1102D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925413	NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)	COL1A2 (G787C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925411	NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)	COL1A2 (G616R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925410	NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)	COL1A2 (G544S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925409	NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)	COL1A2 (G427S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925407	NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)	COL1A2 (G385E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925406	NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)	COL1A2 (G313C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925405	NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)	COL1A2 (G247R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925404	NM_000089.4(COL1A2):c.693+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925403	NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)	COL1A2 (G196D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925402	NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)	COL1A2 (G190V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2925401	NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)	COL1A2 (G160R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2922855	NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)	COL1A2 (G904A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2922709	NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)	COL1A2 (G469S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2922640	NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)	COL1A2 (G235D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2922279	NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)	COL1A2 (G478C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2921806	NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)	COL1A2 (G181E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2921573	NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)	COL1A2 (G904V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2917788	NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)	COL6A3 (G2007R +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2916860	NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)	COL6A2 (G343S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2916598	NM_033380.3(COL4A5):c.2268TGGGCCACC[1] (p.758PPG[1])	COL4A5	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2915529	NM_033380.3(COL4A5):c.3704G>C (p.Gly1235Ala)	COL4A5 (G1235A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2915391	NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)	COL6A2 (G564A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2914244	NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)	COL6A1 (G404R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2910472	NM_001848.3(COL6A1):c.859-2A>G	COL6A1	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GPathogenic
Select item 2910471	NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)	COL6A1 (G278V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GPathogenic
Select item 2910171	NM_000094.4(COL7A1):c.7432G>C (p.Gly2478Arg)	COL7A1 (G2478R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2907800	NM_001845.6(COL4A1):c.343G>C (p.Gly115Arg)	COL4A1 (G115R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2907593	NM_033380.3(COL4A5):c.2351G>T (p.Gly784Val)	COL4A5 (G784V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2903396	NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)	COL4A5 (G1279S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2902265	NM_001845.6(COL4A1):c.1720G>A (p.Gly574Ser)	COL4A1 (G574S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2900713	NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)	COL4A1 (G46R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2900638	NM_000094.4(COL7A1):c.6331G>A (p.Gly2111Arg)	COL7A1 (G2111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895463	NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)	COL6A1 (G446S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2894892	NM_033380.3(COL4A5):c.4270G>A (p.Gly1424Ser)	COL4A5 (G1418S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2891706	NM_000094.4(COL7A1):c.5989G>A (p.Gly1997Ser)	COL7A1 (G1997S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887777	NM_000094.4(COL7A1):c.4112G>C (p.Gly1371Ala)	COL7A1 (G1371A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886107	NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)	COL3A1 (G1029C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2884405	NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del)	COL4A1 (E651del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2884116	NM_033380.3(COL4A5):c.1075G>C (p.Gly359Arg)	COL4A5 (G359R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2884075	NM_000088.4(COL1A1):c.1310G>C (p.Gly437Ala)	COL1A1 (G437A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2883995	NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu)	COL3A1 (G828E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2879992	NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)	COL3A1 (G318C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2874060	NM_033380.3(COL4A5):c.232G>A (p.Gly78Ser)	COL4A5 (G78S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2871414	NM_001844.5(COL2A1):c.686AACCTGGTG[1] (p.229EPG[1])	COL2A1	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 2869466	NM_033380.3(COL4A5):c.1591_1599del (p.Ile531_Gly533del)	COL4A5	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2868565	NM_000094.4(COL7A1):c.4981G>C (p.Gly1661Arg)	COL7A1 (G1661R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2866659	NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4])	COL1A1	Deletion (inframe_deletion)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2866230	NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala)	COL2A1 (G822A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2864863	NM_033380.3(COL4A5):c.2927G>T (p.Gly976Val)	COL4A5 (G976V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2864665	NM_033380.3(COL4A5):c.2296G>C (p.Gly766Arg)	COL4A5 (G766R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2864640	NM_001845.6(COL4A1):c.469G>A (p.Gly157Ser)	COL4A1 (G157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864568	NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)	COL3A1 (G207R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2862472	NM_033380.3(COL4A5):c.1606G>A (p.Gly536Ser)	COL4A5 (G536S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2861748	NM_000094.4(COL7A1):c.6226G>A (p.Gly2076Ser)	COL7A1 (G2076S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2861707	NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)	COL4A1 (G1245D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2861242	NM_033380.3(COL4A5):c.2981G>C (p.Gly994Ala)	COL4A5 (G994A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2860970	NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala)	COL1A1 (G410A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2859637	NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)	COL2A1 (G1029C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2859266	NM_033380.3(COL4A5):c.530G>C (p.Gly177Ala)	COL4A5 (G177A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2858852	NM_033380.3(COL4A5):c.3695G>A (p.Gly1232Asp)	COL4A5 (G1232D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2858817	NM_001845.6(COL4A1):c.2581G>C (p.Gly861Arg)	COL4A1 (G861R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2858815	NM_001845.6(COL4A1):c.1721G>T (p.Gly574Val)	COL4A1 (G574V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2857287	NM_033380.3(COL4A5):c.296G>C (p.Gly99Ala)	COL4A5 (G99A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2857217	NM_033380.3(COL4A5):c.3890G>T (p.Gly1297Val)	COL4A5 (G1297V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2856561	NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)	COL3A1 (G693E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2856353	NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp)	COL3A1 (G1113D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2854502	NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val)	COL2A1 (G591V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2853894	NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)	COL6A1 (G547E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance

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