ClinVar for MedGen (Select 78664) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2577428	NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)	COL1A2 (G1093C)	Single nucleotide variant (missense variant)	COL1A2-related condition	GLikely 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 with normal sclerae, dominant form +5 more	GPathogenic
Select item 1687324	NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr)	COL1A1 (A1387T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +1 more	GConflicting classifications of pathogenicity
Select item 1687168	NM_000088.4(COL1A1):c.104-2A>G	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely 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)	Ehlers-danlos syndrome, arthrochalasia type, 2 +8 more	GLikely benign
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)	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)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GPathogenic
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 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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1254747	NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)	COL1A1 (Q393*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, arthrochalasia type +8 more	GPathogenic/Likely pathogenic
Select item 1224367	NM_000089.4(COL1A2):c.1847G>A (p.Gly616Glu)	COL1A2 (G616E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +1 more	GPathogenic/Likely pathogenic
Select item 1215933	NM_000088.4(COL1A1):c.4006-33G>A	COL1A1	Single nucleotide variant (intron variant)	not specified +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 1008844	NM_000088.4(COL1A1):c.3531+4T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GUncertain significance
Select item 993627	NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)	COL1A1 (G365V)	Single nucleotide variant (missense variant)	COL1A1-related condition +5 more	GPathogenic/Likely pathogenic
Select item 982088	NM_000088.4(COL1A1):c.459del (p.Gly154fs)	COL1A1 (G154fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic
Select item 945567	NM_000089.4(COL1A2):c.2842C>T (p.Arg948Cys)	COL1A2 (R948C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +8 more	GUncertain significance
Select item 916285	NM_000089.4(COL1A2):c.2815G>A (p.Asp939Asn)	COL1A2 (D939N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 853946	NM_000088.4(COL1A1):c.2084del (p.Gly695fs)	COL1A1 (G695fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type III +2 more	GPathogenic
Select item 811535	NM_000088.4(COL1A1):c.104-441G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +8 more	GBenign/Likely benign
Select item 803438	NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)	COL1A1 (R120*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +10 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)	not provided +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 type III	GLikely 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)	Osteogenesis imperfecta type III +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)	Osteogenesis imperfecta type III +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)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GBenign
Select item 674809	NM_000088.4(COL1A1):c.3815-35T>C	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +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)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GBenign
Select item 674805	NM_000088.4(COL1A1):c.2028+39C>T	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GBenign
Select item 674804	NM_000088.4(COL1A1):c.1984-41G>A	COL1A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, arthrochalasia type +5 more	GBenign
Select item 647159	NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser)	COL1A1 (G425S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 644457	NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	COL1A2 (G448R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +7 more	GPathogenic/Likely pathogenic
Select item 638318	NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)	COL1A2 (G802V)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +4 more	GLikely pathogenic
Select item 637973	NM_000089.4(COL1A2):c.1244G>T (p.Gly415Val)	COL1A2 (G415V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GUncertain significance
Select item 580344	NM_000088.4(COL1A1):c.1128del (p.Gly377fs)	COL1A1 (G377fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type III +4 more	GPathogenic
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +8 more	GPathogenic
Select item 578894	NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)	COL1A1 (D1332N)	Single nucleotide variant (missense variant)	Infantile cortical hyperostosis +8 more	GConflicting classifications of pathogenicity
Select item 566740	NM_000088.4(COL1A1):c.1200+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal +10 more	GUncertain significance
Select item 560982	NM_000089.4(COL1A2):c.3287_3288insTCCCCCTGT (p.Pro1098_Gly1099insValProPro)	COL1A2	Insertion (inframe_insertion)	Osteogenesis imperfecta type III	GUncertain significance
Select item 526896	NM_000089.4(COL1A2):c.671G>A (p.Arg224His)	COL1A2 (R224H)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +9 more	GConflicting classifications of pathogenicity
Select item 526891	NM_000089.4(COL1A2):c.52T>C (p.Cys18Arg)	COL1A2 (C18R)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 526887	NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)	COL1A2 (R948H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 520400	NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val)	COL1A2 (G412V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 517702	NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	COL1A1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +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 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)	Ehlers-Danlos syndrome, cardiac valvular type +8 more	GPathogenic
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +12 more	GBenign/Likely benign
Select item 456803	NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile)	COL1A2 (V416I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GConflicting classifications of pathogenicity
Select item 456802	NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	COL1A2 (G358S)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +9 more	GPathogenic
Select item 456758	NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs)	COL1A1 (R970fs)	Microsatellite (frameshift variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 456752	NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)	COL1A1 (A868T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +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)	not provided +11 more	GBenign/Likely benign
Select item 450546	NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	COL1A1 (G329R)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +7 more	GPathogenic/Likely pathogenic
Select item 450185	NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)	COL1A1 (R1399H)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +8 more	GConflicting classifications of pathogenicity
Select item 447141	NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)	COL1A1 (G788S)	Single nucleotide variant (missense variant)	Postmenopausal osteoporosis +8 more	GPathogenic
Select item 444409	NM_000088.4(COL1A1):c.4005+5G>A	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +11 more	GUncertain significance
Select item 431028	NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp)	COL1A1 (G1148D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425665	LRG_2t1:c.(?_-471)_(738+1_739-1)del	COL1A2	Deletion	Osteogenesis imperfecta type III	GPathogenic
Select item 425664	NM_000089.4(COL1A2):c.992G>A (p.Gly331Asp)	COL1A2 (G331D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425656	NM_000089.4(COL1A2):c.3089G>C (p.Gly1030Ala)	COL1A2 (G1030A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425655	NM_000089.4(COL1A2):c.3008G>A (p.Gly1003Asp)	COL1A2 (G1003D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic
Select item 425654	NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val)	COL1A2 (G973V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GPathogenic

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