ClinVar for MedGen (Select 75673) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255202	NM_000088.4(COL1A1):c.1787_1798del (p.Gly596_Gly599del)	COL1A1	Deletion (inframe_indel +1 more)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 3255125	NM_000088.4(COL1A1):c.3092G>A (p.Gly1031Asp)	COL1A1 (G1031D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 3252038	NM_000089.4(COL1A2):c.928G>A (p.Gly310Ser)	COL1A2 (G310S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3220896	NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val)	COL1A1 (G959V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 3066077	NM_000088.4(COL1A1):c.64= (p.Gly22=)	COL1A1	Variation (no sequence alteration)	Osteogenesis imperfecta type I +3 more	GPathogenic
Select item 3064039	NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)	COL1A2 (Q23*)	Single nucleotide variant (nonsense)	Ehlers-danlos syndrome, arthrochalasia type, 2 +4 more	Gnot provided
Select item 3062269	NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)	COL1A1 (E1401*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +3 more	GLikely pathogenic
Select item 2683900	NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)	COL1A2 (G205D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 2674616	NM_000088.4(COL1A1):c.1461+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GUncertain significance
Select item 2628087	NM_000088.4(COL1A1):c.2830-2A>C	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
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 2501692	NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)	COL1A1 (G335V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 2498126	NM_000088.4(COL1A1):c.3977T>G (p.Phe1326Cys)	COL1A1 (F1326C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 2431396	NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)	COL1A2 (G904R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 2431378	NM_000089.4(COL1A2):c.1531G>T (p.Gly511Cys)	COL1A2 (G511C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1803272	NM_000088.4(COL1A1):c.299-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1710022	NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val)	COL1A1 (G1145V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1702532	NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser)	COL1A1 (G623S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1696434	NM_000089.4(COL1A2):c.3159+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 1694467	NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser)	COL1A2 (G511S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GPathogenic
Select item 1691224	NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val)	COL1A2 (G622V)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 1685649	NM_000089.4(COL1A2):c.1900G>A (p.Gly634Ser)	COL1A2 (G634S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1685648	NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg)	COL1A2 (G403R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic
Select item 1685272	NM_000089.4(COL1A2):c.1972-1G>T	COL1A2	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1683603	NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu)	COL1A2 (G448E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1678538	NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg)	COL1A1 (G467R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1675161	NM_000089.4(COL1A2):c.432+2T>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, cardiac valvular type +5 more	GLikely pathogenic
Select item 1547003	NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 1527954	NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg)	COL1A2 (G979R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1454487	NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)	COL1A2 (G763D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic/Likely pathogenic
Select item 1431093	NM_000088.4(COL1A1):c.1667del (p.Pro556fs)	COL1A1 (P556fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 1341504	NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu)	COL1A2 (G904E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1341503	NM_000089.4(COL1A2):c.279+3A>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1341500	NM_000089.4(COL1A2):c.231del (p.Phe77fs)	COL1A2 (F77fs)	Deletion (frameshift variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1338858	NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val)	COL1A1 (G779V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1338758	NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser)	COL1A1 (G686S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1333726	NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys)	COL1A2 (G544C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1333627	NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val)	COL1A1 (G431V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1332999	NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp)	COL1A2 (G1045D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1332992	NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys)	COL1A1 (G1106C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1332991	NM_000088.4(COL1A1):c.4238A>G (p.Asp1413Gly)	COL1A1 (D1413G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1332990	NM_000088.4(COL1A1):c.2398-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1332753	NM_000088.4(COL1A1):c.2029-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic
Select item 1320217	NM_000089.4(COL1A2):c.1163G>T (p.Gly388Val)	COL1A2 (G388V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1314448	NM_000089.4(COL1A2):c.3019G>A (p.Asp1007Asn)	COL1A2 (D1007N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta, perinatal lethal +8 more	GPathogenic/Likely pathogenic
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +9 more	GBenign/Likely benign
Select item 1211288	NM_000088.4(COL1A1):c.3261+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic/Likely pathogenic
Select item 1184567	NM_000088.4(COL1A1):c.1200+1del	COL1A1	Deletion (splice donor variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1184518	NM_000088.4(COL1A1):c.3046-1G>T	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1184445	NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)	COL1A2 (G109V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1076006	NM_000088.4(COL1A1):c.288del (p.Asp97fs)	COL1A1 (D97fs)	Deletion (frameshift variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +8 more	GPathogenic
Select item 1075143	NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)	COL1A1 (G326R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065492	NM_000088.4(COL1A1):c.4291del (p.Thr1431fs)	COL1A1 (T1431fs)	Deletion (frameshift variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1027380	NM_000089.4(COL1A2):c.1352G>A (p.Gly451Asp)	COL1A2 (G451D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 1027156	NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)	COL1A1 (R370H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GConflicting classifications of pathogenicity
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +8 more	GUncertain significance
Select item 993627	NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)	COL1A1 (G365V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +5 more	GPathogenic/Likely pathogenic
Select item 992399	NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser)	COL1A1 (G692S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 983519	NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp)	COL1A1 (G335D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GUncertain significance
Select item 839050	NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)	COL1A2 (G769C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 812584	NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val)	COL1A1 (G641V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 811940	NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)	COL1A1 (G704S)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 811535	NM_000088.4(COL1A1):c.104-441G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +8 more	GBenign/Likely benign
Select item 802335	NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)	COL1A2 (G679S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +1 more	GLikely pathogenic
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	not provided +10 more	GLikely benign
Select item 689608	NM_000088.4(COL1A1):c.3538C>A (p.Pro1180Thr)	COL1A1 (P1180T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely benign
Select item 689605	NM_000088.4(COL1A1):c.1241C>T (p.Ala414Val)	COL1A1 (A414V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely benign
Select item 675050	NM_000088.4(COL1A1):c.588+33T>C	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674809	NM_000088.4(COL1A1):c.3815-35T>C	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674808	NM_000088.4(COL1A1):c.3261+31T>C	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674807	NM_000088.4(COL1A1):c.2830-33C>G	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674805	NM_000088.4(COL1A1):c.2028+39C>T	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674804	NM_000088.4(COL1A1):c.1984-41G>A	COL1A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 644457	NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	COL1A2 (G448R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +7 more	GPathogenic/Likely pathogenic
Select item 599144	NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)	COL1A2 (G406S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 585502	NM_000089.4(COL1A2):c.3304G>A (p.Gly1102Ser)	COL1A2 (G1102S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GPathogenic
Select item 578894	NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	COL1A1 (D1332N)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 566740	NM_000088.4(COL1A1):c.1200+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +10 more	GUncertain significance
Select item 546427	NM_000089.4(COL1A2):c.2943+1_2943+2del	COL1A2	Deletion (splice donor variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GPathogenic
Select item 526896	NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	COL1A2 (R224H)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +9 more	GConflicting classifications of pathogenicity
Select item 526895	NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)	COL1A2 (G460S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +3 more	GPathogenic
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +8 more	GUncertain significance
Select item 526887	NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	COL1A2 (R948H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +10 more	GUncertain significance
Select item 521008	NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	COL1A2 (G526R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic/Likely pathogenic
Select item 517702	NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type III +10 more	GConflicting classifications of pathogenicity
Select item 512519	NM_000088.4(COL1A1):c.589-20T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GLikely benign
Select item 497350	NM_000088.4(COL1A1):c.2010del (p.Gly671fs)	COL1A1 (G671fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 496615	NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	COL1A2 (G199D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 478914	NM_000088.4(COL1A1):c.3495del (p.Gly1166fs)	COL1A1 (G1166fs)	Deletion (frameshift variant)	not provided +8 more	GPathogenic
Select item 456848	NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	COL1A2 (G328S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +8 more	GPathogenic
Select item 456846	NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)	COL1A2 (G316S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +3 more	GPathogenic/Likely pathogenic
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GBenign/Likely benign
Select item 456815	NM_000089.4(COL1A2):c.2133+6T>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +9 more	GPathogenic
Select item 456752	NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	COL1A1 (A868T)	Single nucleotide variant (missense variant)	Osteoporosis +9 more	GConflicting classifications of pathogenicity
Select item 456729	NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)	COL1A1 (A390T)	Single nucleotide variant (missense variant)	Osteoporosis +11 more	GBenign/Likely benign
Select item 450546	NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	COL1A1 (G329R)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic

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