ClinVar for MedGen (Select 78664) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3778712	NM_000088.4(COL1A1):c.299-10C>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 3776259	NM_000088.4(COL1A1):c.932G>T (p.Gly311Val)	COL1A1 (G311V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3767984	NM_000088.4(COL1A1):c.503del (p.Asp168fs)	COL1A1 (D168fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +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 type I +7 more	GLikely pathogenic
Select item 3758891	NM_000089.4(COL1A2):c.1459G>C (p.Gly487Arg)	COL1A2 (G487R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +4 more	GPathogenic/Likely pathogenic
Select item 3594955	NM_000089.4(COL1A2):c.2990G>T (p.Gly997Val)	COL1A2 (G997V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type +6 more	GLikely pathogenic
Select item 3594954	NM_000089.4(COL1A2):c.1523G>T (p.Gly508Val)	COL1A2 (G508V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, cardiac valvular type +6 more	GPathogenic
Select item 3582318	NM_000088.4(COL1A1):c.1563A>T (p.Gly521=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta, perinatal lethal +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)	Infantile cortical hyperostosis +7 more	GLikely pathogenic
Select item 3382832	NM_000088.4(COL1A1):c.644G>A (p.Gly215Asp)	COL1A1 (G215D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3382710	NM_000088.4(COL1A1):c.3263del	COL1A1	Deletion (splice acceptor variant)	Infantile cortical hyperostosis +7 more	GLikely pathogenic
Select item 3382556	NM_000088.4(COL1A1):c.1742G>A (p.Gly581Glu)	COL1A1 (G581E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +1 more	GLikely pathogenic
Select item 3363155	NM_000089.4(COL1A2):c.2234G>A (p.Gly745Glu)	COL1A2 (G745E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3338018	NM_000089.4(COL1A2):c.1207G>T (p.Gly403Cys)	COL1A2 (G403C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3242194	NM_000089.4(COL1A2):c.2404G>A (p.Gly802Ser)	COL1A2 (G802S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3066077	NM_000088.4(COL1A1):c.64= (p.Gly22=)	COL1A1	Variation (no sequence alteration)	Osteogenesis imperfecta, perinatal lethal +3 more	GPathogenic
Select item 3062269	NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)	COL1A1 (E1401*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta, perinatal lethal +3 more	GLikely pathogenic
Select item 2780397	NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser)	COL1A1 (G200S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +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 2674616	NM_000088.4(COL1A1):c.1461+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +5 more	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 2628084	NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val)	COL1A1 (G350V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 2628083	NM_000089.4(COL1A2):c.1927G>A (p.Gly643Arg)	COL1A2 (G643R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 2577428	NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)	COL1A2 (G1093C)	Single nucleotide variant (missense variant)	COL1A2-related disorder +2 more	GPathogenic/Likely pathogenic
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 2572560	NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)	COL1A2 (C1195S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +2 more	GPathogenic/Likely pathogenic
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 1806464	NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser)	COL1A2 (G952S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1806460	NM_000088.4(COL1A1):c.4352_4356del (p.Asp1451fs)	COL1A1 (D1451fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1806459	NM_000088.4(COL1A1):c.3880dup (p.Glu1294fs)	COL1A1 (E1294fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1806458	NM_000088.4(COL1A1):c.3119G>C (p.Gly1040Ala)	COL1A1 (G1040A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1804634	NM_000089.4(COL1A2):c.2010_2013delinsG (p.Arg671del)	COL1A2 (R671del)	Indel (inframe_deletion)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1709942	NM_000089.4(COL1A2):c.1018G>C (p.Gly340Arg)	COL1A2 (G340R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 1705642	NM_000089.4(COL1A2):c.1163G>A (p.Gly388Glu)	COL1A2 (G388E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 1699981	NM_000089.4(COL1A2):c.1631G>C (p.Gly544Ala)	COL1A2 (G544A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
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)	Ehlers-Danlos syndrome, arthrochalasia type, 2 +7 more	GConflicting classifications of pathogenicity
Select item 1687324	NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr)	COL1A1 (A1387T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +3 more	GPathogenic/Likely pathogenic
Select item 1687168	NM_000088.4(COL1A1):c.104-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type III +1 more	GPathogenic/Likely 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 1488079	NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)	COL1A2 (G625C)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1468991	NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)	COL1A2 (G772R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely 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 type I +7 more	GPathogenic
Select item 1424024	NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)	COL1A1 (R1260H)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +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 type I +7 more	GUncertain significance
Select item 1343415	NM_000088.4(COL1A1):c.3064G>T (p.Gly1022Cys)	COL1A1 (G1022C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
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 1333655	NM_000089.4(COL1A2):c.2161G>T (p.Gly721Cys)	COL1A2 (G721C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 1333647	NM_000089.4(COL1A2):c.3162_3224del (p.Pro1058_Gly1078del)	COL1A2	Deletion (inframe_deletion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 1333640	NM_000088.4(COL1A1):c.1082_1099dup (p.Arg361_Pro366dup)	COL1A1	Duplication (inframe_insertion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 1322116	NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter)	COL1A1 (G521*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type III +1 more	GPathogenic/Likely pathogenic
Select item 1311241	NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val)	COL1A1 (A735V)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +8 more	GPathogenic/Likely pathogenic
Select item 1224367	NM_000089.4(COL1A2):c.1847G>A (p.Gly616Glu)	COL1A2 (G616E)	Single nucleotide variant (missense variant)	not provided +1 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 1076006	NM_000088.4(COL1A1):c.288del (p.Asp97fs)	COL1A1 (D97fs)	Deletion (frameshift variant)	Cardiovascular phenotype +8 more	GPathogenic
Select item 1072429	NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser)	COL1A1 (G701S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +2 more	GPathogenic/Likely pathogenic
Select item 1068896	NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)	COL1A2 (G919S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 1027156	NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)	COL1A1 (R370H)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +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)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 982088	NM_000088.4(COL1A1):c.459del (p.Gly154fs)	COL1A1 (G154fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GUncertain significance
Select item 916285	NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn)	COL1A2 (D939N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 870103	NM_000088.4(COL1A1):c.1646del (p.Pro549fs)	COL1A1 (P549fs)	Deletion (frameshift variant)	Osteoporosis +8 more	GPathogenic
Select item 853946	NM_000088.4(COL1A1):c.2084del (p.Gly695fs)	COL1A1 (G695fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 848804	NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)	COL1A2 (G1084C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +10 more	GConflicting classifications of pathogenicity
Select item 811535	NM_000088.4(COL1A1):c.104-441G>T	COL1A1	Single nucleotide variant (intron variant)	not specified +9 more	GBenign/Likely benign
Select item 810133	NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)	COL1A2 (P770L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 803438	NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)	COL1A1 (R120*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type III +2 more	GPathogenic
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +9 more	GLikely benign
Select item 684756	NM_001854.4(COL11A1):c.3619G>A (p.Gly1207Ser)	COL11A1 (G1091S +3 more)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684755	NM_000393.5(COL5A2):c.4174C>A (p.Leu1392Ile)	COL5A2 (L1392I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684754	NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs)	SLC34A1 (G53fs)	Indel (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684753	NM_006129.5(BMP1):c.1215C>G (p.Ile405Met)	BMP1 (I405M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684752	NM_021939.4(FKBP10):c.523_552dup (p.Asp175_Thr184dup)	FKBP10	Duplication (inframe_insertion)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684751	NM_021939.4(FKBP10):c.1024dup (p.Thr342fs)	FKBP10 (T342fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684750	NM_021939.4(FKBP10):c.773T>G (p.Leu258Arg)	FKBP10 (L258R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684749	NM_000089.4(COL1A2):c.757G>C (p.Gly253Arg)	COL1A2 (G253R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684748	NM_005430.4(WNT1):c.501G>C (p.Trp167Cys)	WNT1 (W167C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +1 more	GConflicting classifications of pathogenicity
Select item 684747	NM_006129.5(BMP1):c.916A>C (p.Ser306Arg)	BMP1 (S306R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684746	NM_021939.4(FKBP10):c.918-2A>G	FKBP10	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 684745	NM_022356.4(P3H1):c.1980dup (p.Val661fs)	P3H1 (V661fs)	Duplication (frameshift variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 684744	NM_022356.4(P3H1):c.2131dup (p.Leu711fs)	P3H1 (L711fs)	Duplication (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 8 +1 more	GPathogenic/Likely pathogenic
Select item 684743	NM_002615.7(SERPINF1):c.868GAG[1] (p.Glu291del)	SERPINF1 (E104del +1 more)	Microsatellite (inframe_deletion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684742	NM_002615.7(SERPINF1):c.742_747del (p.Lys248_Ala249del)	SERPINF1	Deletion (inframe_deletion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684741	NM_002615.7(SERPINF1):c.621_623del (p.Leu208del)	SERPINF1 (L208del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 684740	NM_000089.4(COL1A2):c.2434C>T (p.Pro812Ser)	COL1A2 (P812S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 684739	NM_000089.4(COL1A2):c.2026-1_2042dup	COL1A2	Duplication (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 684738	NM_000089.4(COL1A2):c.1613G>A (p.Gly538Asp)	COL1A2 (G538D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 675050	NM_000088.4(COL1A1):c.588+33T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GBenign
Select item 674809	NM_000088.4(COL1A1):c.3815-35T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +5 more	GBenign
Select item 674808	NM_000088.4(COL1A1):c.3261+31T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674807	NM_000088.4(COL1A1):c.2830-33C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674805	NM_000088.4(COL1A1):c.2028+39C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign
Select item 674804	NM_000088.4(COL1A1):c.1984-41G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type III +5 more	GBenign

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