Related gene-specific medical variations for Gene (Select 1277) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366886	NM_000088.4(COL1A1):c.877G>C (p.Gly293Arg)	COL1A1, LOC126862586 (G293R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3363165	NM_000088.4(COL1A1):c.370-2A>C	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3363153	NM_000088.4(COL1A1):c.2444G>A (p.Gly815Asp)	COL1A1 (G815D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3361683	NM_000088.4(COL1A1):c.2788C>T (p.Pro930Ser)	COL1A1 (P930S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341114	NM_000088.4(COL1A1):c.1336G>A (p.Gly446Ser)	COL1A1 (G446S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3339810	NM_000088.4(COL1A1):c.752delG	COL1A1, LOC126862586	Deletion (splice acceptor variant)	Osteogenesis imperfecta	GPathogenic
Select item 3338861	NM_000088.4(COL1A1):c.896G>A (p.Gly299Asp)	COL1A1, LOC126862586 (G299D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3268602	NM_000088.4(COL1A1):c.731G>T (p.Arg244Leu)	COL1A1, LOC126862586 (R244L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3253125	NM_000088.4(COL1A1):c.761G>T (p.Gly254Val)	COL1A1, LOC126862586 (G254V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3242842	NC_000017.10:g.(?_48268803)_(48269354_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3242841	NC_000017.10:g.(?_48274351)_(48274614_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3242840	NC_000017.10:g.(?_48275073)_(48278874_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3242839	NC_000017.10:g.(?_48276567)_(48278874_?)del	COL1A1	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 3238781	NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs)	COL1A1 (P141fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3065937	NM_000088.4(COL1A1):c.3176dup (p.Ala1060fs)	COL1A1 (A1060fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3064974	NM_000088.4(COL1A1):c.751-2A>T	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 3062269	NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)	COL1A1 (E1401*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GLikely pathogenic
Select item 3061969	NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)	COL1A1 (G1448R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3049020	NM_000088.4(COL1A1):c.904G>C (p.Gly302Arg)	COL1A1, LOC126862586 (G302R)	Single nucleotide variant (missense variant)	COL1A1-related disorder	GLikely pathogenic
Select item 3022212	NM_000088.4(COL1A1):c.804+16del	COL1A1, LOC126862586	Deletion (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2917400	NM_000088.4(COL1A1):c.885T>A (p.Asn295Lys)	COL1A1, LOC126862586 (N295K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2915039	NM_000088.4(COL1A1):c.746C>A (p.Pro249His)	COL1A1, LOC126862586 (P249H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2911963	NM_000088.4(COL1A1):c.697-9C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2887333	NM_000088.4(COL1A1):c.894T>C (p.Pro298=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2887317	NM_000088.4(COL1A1):c.699G>A (p.Gly233=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2869165	NM_000088.4(COL1A1):c.858+4A>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2847096	NM_000088.4(COL1A1):c.900G>T (p.Gln300His)	COL1A1, LOC126862586 (Q300H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2839195	NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter)	COL1A1, LOC126862586 (E309*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 2823014	NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr)	COL1A1, LOC126862586 (A297T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2802974	NM_000088.4(COL1A1):c.751-13C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2768412	NM_000088.4(COL1A1):c.731G>A (p.Arg244His)	COL1A1, LOC126862586 (R244H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2766014	NM_000088.4(COL1A1):c.903+16del	COL1A1, LOC126862586	Deletion (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2743871	NM_000088.4(COL1A1):c.700G>T (p.Glu234Ter)	COL1A1, LOC126862586 (E234*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 2742295	NM_000088.4(COL1A1):c.800dup (p.His267fs)	COL1A1, LOC126862586 (H267fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2736628	NM_000088.4(COL1A1):c.697-2A>T	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2730949	NM_000088.4(COL1A1):c.804+3G>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2714511	NM_000088.4(COL1A1):c.903+9G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2709432	NM_000088.4(COL1A1):c.804+20T>C	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2707664	NM_000088.4(COL1A1):c.750+4A>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2701334	NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA	COL1A1, LOC126862586	Insertion (intron variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2693208	NM_000088.4(COL1A1):c.725del (p.Gly242fs)	COL1A1, LOC126862586 (G242fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2688821	NM_000088.4(COL1A1):c.3827T>G (p.Ile1276Ser)	COL1A1 (I1276S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688778	NM_000088.4(COL1A1):c.1072del (p.Gln358fs)	COL1A1 (Q358fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2688773	NM_000088.4(COL1A1):c.4005+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2684107	NM_000088.4(COL1A1):c.1515+19C>T	COL1A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683437	NM_000088.4(COL1A1):c.904-25T>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2628086	NM_000088.4(COL1A1):c.750+1G>T	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 2626750	NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr)	COL1A1 (H1323Y)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2626749	NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp)	COL1A1 (G731D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 2626748	NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser)	COL1A1 (G1001S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2582648	NM_000088.4(COL1A1):c.370-2A>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 2582441	NM_000088.4(COL1A1):c.3100-6C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2581594	NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter)	COL1A1, LOC126862586 (G254*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta	GPathogenic
Select item 2573072	NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val)	COL1A1 (G953V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 2572792	NM_000088.4(COL1A1):c.734G>A (p.Gly245Glu)	COL1A1, LOC126862586 (G245E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2562352	NM_000088.4(COL1A1):c.750+3G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2504977	NM_000088.4(COL1A1):c.750+1G>A	LOC126862586, COL1A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2503428	NM_000088.4(COL1A1):c.2821G>A (p.Gly941Ser)	COL1A1 (G941S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 2440275	NM_000088.4(COL1A1):c.2393C>T (p.Ala798Val)	COL1A1 (A798V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440274	NM_000088.4(COL1A1):c.346G>C (p.Asp116His)	COL1A1 (D116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440273	NM_000088.4(COL1A1):c.804+3G>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2440271	NM_000088.4(COL1A1):c.3815-3C>T	COL1A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439282	NM_000088.4(COL1A1):c.662G>A (p.Gly221Asp)	COL1A1 (G221D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2435767	NM_000088.4(COL1A1):c.3100-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2435753	NM_000088.4(COL1A1):c.983_984dup (p.Gly329fs)	COL1A1 (G329fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2428730	NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp)	COL1A1 (G902D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428541	NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)	COL1A1 (S787R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182672	NM_000088.4(COL1A1):c.751-3C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2149617	NM_000088.4(COL1A1):c.738T>C (p.Pro246=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2138080	NM_000088.4(COL1A1):c.697-2del	COL1A1, LOC126862586	Deletion (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2138079	NM_000088.4(COL1A1):c.858+1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2138078	NM_000088.4(COL1A1):c.904-10T>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2121338	NM_000088.4(COL1A1):c.903+1G>T	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2116177	NM_000088.4(COL1A1):c.722del (p.Pro241fs)	COL1A1, LOC126862586 (P241fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2102724	NM_000088.4(COL1A1):c.903+1del	COL1A1, LOC126862586	Deletion (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2102019	NM_000088.4(COL1A1):c.861T>A (p.Gly287=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2102018	NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg)	COL1A1, LOC126862586 (G296R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 2091009	NM_000088.4(COL1A1):c.774_785del (p.Ala259_Pro262del)	COL1A1, LOC126862586	Deletion (inframe_deletion)	Osteogenesis imperfecta type I	GPathogenic
Select item 2082199	NM_000088.4(COL1A1):c.858+20T>A	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GBenign
Select item 2079492	NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)	COL1A1, LOC126862586 (G284D)	Single nucleotide variant (missense variant)	COL1A1-related disorder +1 more	GLikely pathogenic
Select item 2078988	NM_000088.4(COL1A1):c.903+11C>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2074488	NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser)	COL1A1, LOC126862586 (P256S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 2047013	NM_000088.4(COL1A1):c.751-20T>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 2033142	NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter)	COL1A1, LOC126862586 (E294*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 2016280	NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter)	COL1A1, LOC126862586 (G257*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 1996639	NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp)	COL1A1, LOC126862586 (G269D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1990122	NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys)	COL1A1, LOC126862586 (R244C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1980691	NM_000088.4(COL1A1):c.903+12C>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1962270	NM_000088.4(COL1A1):c.904-17C>T	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1959738	NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser)	COL1A1, LOC126862586 (P241S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1945773	NM_000088.4(COL1A1):c.805-14C>G	COL1A1, LOC126862586	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1944103	NM_000088.4(COL1A1):c.904-17C>G	LOC126862586, COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GLikely benign
Select item 1807127	NM_000088.4(COL1A1):c.3208-19C>T	COL1A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1807123	NM_000088.4(COL1A1):c.1433C>G (p.Thr478Ser)	COL1A1 (T478S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804924	NM_000088.4(COL1A1):c.697-2A>C	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 1804449	NM_000088.4(COL1A1):c.730C>A (p.Arg244Ser)	COL1A1, LOC126862586 (R244S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803788	NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala)	LOC126862586, COL1A1 (G269A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 1764614	NM_000088.4(COL1A1):c.876T>C (p.Pro292=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1760852	NM_000088.4(COL1A1):c.783C>T (p.Leu261=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1760721	NM_000088.4(COL1A1):c.780C>G (p.Gly260=)	COL1A1, LOC126862586	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign

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