ClinVar for MedGen (Select 78665) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3900698	NM_000089.4(COL1A2):c.2269G>T (p.Gly757Cys)	COL1A2 (G757C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3899868	NM_000088.4(COL1A1):c.1900C>T (p.Gln634Ter)	COL1A1 (Q634*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GLikely pathogenic
Select item 3781315	NM_000088.4(COL1A1):c.2821G>T (p.Gly941Cys)	COL1A1 (G941C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3775644	NM_000089.4(COL1A2):c.3758A>G (p.Gln1253Arg)	COL1A2 (Q1253R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 3773660	NM_000088.4(COL1A1):c.3897C>A (p.Cys1299Ter)	COL1A1 (C1299*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3767984	NM_000088.4(COL1A1):c.503del (p.Asp168fs)	COL1A1 (D168fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GLikely pathogenic
Select item 3767111	NM_000089.4(COL1A2):c.2774G>A (p.Gly925Asp)	COL1A2 (G925D)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +7 more	GPathogenic
Select item 3764675	NM_000088.4(COL1A1):c.751-1G>C	COL1A1, LOC126862586	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta with normal sclerae, dominant form +7 more	GLikely pathogenic
Select item 3758891	NM_000089.4(COL1A2):c.1459G>C (p.Gly487Arg)	COL1A2 (G487R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GPathogenic/Likely pathogenic
Select item 3601066	NM_000088.4(COL1A1):c.43del (p.Ala15fs)	COL1A1 (A15fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3601065	NM_000088.4(COL1A1):c.370-2_370-1dup	COL1A1	Duplication (splice acceptor variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3601064	NM_000088.4(COL1A1):c.3366del (p.Pro1123fs)	COL1A1 (P1123fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3601063	NM_000088.4(COL1A1):c.2829+2_2830del	COL1A1	Deletion (splice acceptor variant +1 more)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3594955	NM_000089.4(COL1A2):c.2990G>T (p.Gly997Val)	COL1A2 (G997V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +6 more	GLikely pathogenic
Select item 3594954	NM_000089.4(COL1A2):c.1523G>T (p.Gly508Val)	COL1A2 (G508V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +6 more	GPathogenic
Select item 3582318	NM_000088.4(COL1A1):c.1563A>T (p.Gly521=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +7 more	GUncertain significance
Select item 3383074	NM_000089.4(COL1A2):c.1640G>T (p.Gly547Val)	COL1A2 (G547V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +2 more	GLikely pathogenic
Select item 3382929	NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu)	COL1A1 (G212E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GLikely pathogenic
Select item 3382710	NM_000088.4(COL1A1):c.3263del	COL1A1	Deletion (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GLikely pathogenic
Select item 3377382	NM_000089.4(COL1A2):c.3277G>A (p.Gly1093Ser)	COL1A2 (G1093S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3366898	NM_000089.4(COL1A2):c.2179G>T (p.Gly727Cys)	COL1A2 (G727C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 3366897	NM_000089.4(COL1A2):c.2612G>C (p.Gly871Ala)	COL1A2 (G871A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3366884	NM_000088.4(COL1A1):c.2484_2510del (p.Glu828_Gly836del)	COL1A1	Deletion	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3236715	NM_000089.4(COL1A2):c.3256C>T (p.Gln1086Ter)	COL1A2 (Q1086*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3236266	NM_000089.4(COL1A2):c.2783G>T (p.Gly928Val)	COL1A2 (G928V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3066077	NM_000088.4(COL1A1):c.64= (p.Gly22=)	COL1A1	Variation (no sequence alteration)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GPathogenic
Select item 3064039	NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)	COL1A2 (Q23*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, cardiac valvular type +4 more	Gnot provided
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 2780397	NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)	COL1A1 (G200S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +7 more	GPathogenic/Likely pathogenic
Select item 2772795	NM_000088.4(COL1A1):c.2597del (p.Gly866fs)	COL1A1 (G866fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 2692362	NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]	COL1A2	Variation	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2674616	NM_000088.4(COL1A1):c.1461+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +5 more	GUncertain significance
Select item 2628085	NM_000089.4(COL1A2):c.1028G>A (p.Gly343Glu)	COL1A2 (G343E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
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 2582559	NM_000089.4(COL1A2):c.1504-2A>G	COL1A2	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2572450	NM_000088.4(COL1A1):c.1631del (p.Pro544fs)	COL1A1 (P544fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2572380	NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)	COL1A1 (G890A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 2571594	NM_000089.4(COL1A2):c.821G>T (p.Gly274Val)	COL1A2, COL1A2-AS1 (G274V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2444032	NM_000088.4(COL1A1):c.423del (p.Gly142fs)	COL1A1 (G142fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2136566	NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)	COL1A2 (G550S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 1806466	NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1806462	NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys)	COL1A2 (G553C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1806457	NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)	COL1A1 (N1222D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1709348	NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)	COL1A2 (A1119T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1708264	NM_000089.4(COL1A2):c.1351G>A (p.Gly451Ser)	COL1A2 (G451S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 1694467	NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)	COL1A2 (G511S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic
Select item 1693361	NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp)	COL1A2 (R794W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1687556	NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer)	COL1A1	Deletion (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1687533	NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg)	COL1A2 (G391R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1687324	NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr)	COL1A1 (A1387T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GPathogenic/Likely pathogenic
Select item 1683639	NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)	COL1A2 (G292C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GPathogenic/Likely pathogenic
Select item 1683584	NM_000088.4(COL1A1):c.2990dup (p.Gly998fs)	COL1A1 (G998fs)	Duplication (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1675161	NM_000089.4(COL1A2):c.432+2T>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GLikely pathogenic
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GLikely benign
Select item 1498972	NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	COL1A2 (C1195R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type, 2 +4 more	GPathogenic/Likely pathogenic
Select item 1454487	NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)	COL1A2 (G763D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +4 more	GPathogenic/Likely pathogenic
Select item 1431093	NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	COL1A1 (P556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GPathogenic
Select item 1424024	NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)	COL1A1 (R1260H)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 1415517	NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys)	COL1A1 (R1111C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +7 more	GUncertain significance
Select item 1382447	NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp)	COL1A1, LOC126862586 (G260D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic/Likely pathogenic
Select item 1368199	NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)	COL1A1 (G413A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 1357973	NM_000088.4(COL1A1):c.432del (p.Gly145fs)	COL1A1 (G145fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1342741	NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg)	COL1A1 (G482R)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 1333364	NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala)	COL1A1 (G956A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1311241	NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val)	COL1A1 (A735V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GUncertain significance
Select item 1302007	NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala)	COL1A2 (G874A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Osteoporosis +8 more	GPathogenic/Likely pathogenic
Select item 1224430	NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp)	COL1A2 (G835D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GLikely pathogenic
Select item 1224380	NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)	COL1A2 (G901C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GLikely pathogenic
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	Infantile cortical hyperostosis +9 more	GBenign/Likely benign
Select item 1076006	NM_000088.4(COL1A1):c.288del (p.Asp97fs)	COL1A1 (D97fs)	Deletion (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 1074344	NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter)	COL1A1 (G602*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 1072588	NM_000088.4(COL1A1):c.958-1G>A	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I	GPathogenic/Likely pathogenic
Select item 1068896	NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	COL1A2 (G919S)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1027156	NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)	COL1A1 (R370H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +6 more	GConflicting classifications of pathogenicity
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 993627	NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)	COL1A1 (G365V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic/Likely pathogenic
Select item 982088	NM_000088.4(COL1A1):c.459del (p.Gly154fs)	COL1A1 (G154fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type III +2 more	GPathogenic
Select item 975940	NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala)	COL1A2 (G1102A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 972708	NM_000089.4(COL1A2):c.1604G>C (p.Gly535Ala)	COL1A2 (G535A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +9 more	GUncertain significance
Select item 937217	NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)	COL1A1 (E1273*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic
Select item 931954	NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)	COL1A2 (G184D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GLikely pathogenic
Select item 931916	NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)	COL1A2 (G769V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 931888	NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)	COL1A1 (A847S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 931711	NM_000088.4(COL1A1):c.3045+11C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GConflicting classifications of pathogenicity
Select item 931602	NM_000088.4(COL1A1):c.2490del (p.Asp831fs)	COL1A1 (D831fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 931153	NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter)	COL1A1, LOC126862586 (E243*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 931099	NM_000088.4(COL1A1):c.103+16T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 930902	NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)	COL1A1 (G362S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 930893	NM_000089.4(COL1A2):c.71-6C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 930782	NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro)	COL1A1 (R1217P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 930534	NM_000089.4(COL1A2):c.3854A>G (p.Asn1285Ser)	COL1A2 (N1285S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GUncertain significance
Select item 930491	NM_000088.4(COL1A1):c.3532-12C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GConflicting classifications of pathogenicity
Select item 930288	NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)	COL1A2 (G877S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 872907	NM_000089.4(COL1A2):c.758G>T (p.Gly253Val)	COL1A2 (G253V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 872906	NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe)	COL1A2 (S251F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 870103	NM_000088.4(COL1A1):c.1646del (p.Pro549fs)	COL1A1 (P549fs)	Deletion (frameshift variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +8 more	GPathogenic
Select item 859292	NM_000088.4(COL1A1):c.1127del (p.Pro376fs)	COL1A1 (P376fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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