ClinVar for MedGen (Select 9799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893257	NM_000088.4(COL1A1):c.1163del (p.Pro388fs)	COL1A1 (P388fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 3776115	NM_000088.4(COL1A1):c.3215del (p.Ala1072fs)	COL1A1 (A1072fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GLikely pathogenic
Select item 3768766	NM_000088.4(COL1A1):c.131_132del (p.Gly44fs)	COL1A1 (G44fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	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 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 3764021	NM_000089.4(COL1A2):c.2518C>T (p.Pro840Ser)	COL1A2 (P840S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 3764009	NM_000089.4(COL1A2):c.448C>T (p.Pro150Ser)	COL1A2 (P150S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 3763995	NM_000089.4(COL1A2):c.476T>C (p.Val159Ala)	COL1A2 (V159A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 3763722	NM_000089.4(COL1A2):c.2275G>T (p.Val759Phe)	COL1A2 (V759F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 3763695	NM_000089.4(COL1A2):c.3939T>G (p.Leu1313=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 3763649	NM_000089.4(COL1A2):c.640-10_640-9del	COL1A2	Deletion (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 3763423	NM_000089.4(COL1A2):c.2404-4A>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 3763010	NM_000089.4(COL1A2):c.2077C>A (p.Arg693=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762959	NM_000089.4(COL1A2):c.701G>T (p.Arg234Leu)	COL1A2 (R234L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762954	NM_000089.4(COL1A2):c.2690T>C (p.Leu897Pro)	COL1A2 (L897P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3762834	NM_000089.4(COL1A2):c.3777G>A (p.Leu1259=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762816	NM_000089.4(COL1A2):c.2294C>G (p.Ala765Gly)	COL1A2 (A765G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762667	NM_000089.4(COL1A2):c.1351-17C>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762537	NM_000089.4(COL1A2):c.1611+3G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762501	NM_000089.4(COL1A2):c.1322C>G (p.Pro441Arg)	COL1A2 (P441R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762439	NM_000089.4(COL1A2):c.1146C>A (p.Gly382=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762400	NM_000089.4(COL1A2):c.2080-7A>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762392	NM_000089.4(COL1A2):c.2350-10T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762368	NM_000089.4(COL1A2):c.540+15T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762292	NM_000089.4(COL1A2):c.1089+3A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762273	NM_000089.4(COL1A2):c.1198-14G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762272	NM_000089.4(COL1A2):c.2347C>A (p.Pro783Thr)	COL1A2 (P783T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762191	NM_000089.4(COL1A2):c.1349G>T (p.Arg450Ile)	COL1A2 (R450I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3762162	NM_000089.4(COL1A2):c.1557+20C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3762104	NM_000089.4(COL1A2):c.478G>C (p.Gly160Arg)	COL1A2 (G160R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3762017	NM_000089.4(COL1A2):c.2605G>A (p.Ala869Thr)	COL1A2 (A869T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3761856	NM_000089.4(COL1A2):c.1380C>T (p.Gly460=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3761832	NM_000089.4(COL1A2):c.3520A>C (p.Ser1174Arg)	COL1A2 (S1174R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761581	NM_000089.4(COL1A2):c.379-5C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3761524	NM_000089.4(COL1A2):c.3794C>G (p.Ser1265Cys)	COL1A2 (S1265C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761406	NM_000089.4(COL1A2):c.3464C>T (p.Ser1155Phe)	COL1A2 (S1155F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761364	NM_000089.4(COL1A2):c.280-12C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3761341	NM_000089.4(COL1A2):c.97-15G>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3761339	NM_000089.4(COL1A2):c.169G>A (p.Gly57Ser)	COL1A2 (G57S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761261	NM_000089.4(COL1A2):c.1404+14A>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3761225	NM_000089.4(COL1A2):c.1384G>T (p.Ala462Ser)	COL1A2 (A462S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761165	NM_000089.4(COL1A2):c.936+19C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3761096	NM_000089.4(COL1A2):c.2024G>C (p.Arg675Pro)	COL1A2 (R675P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761077	NM_000089.4(COL1A2):c.3490C>T (p.Arg1164Cys)	COL1A2 (R1164C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3761001	NM_000089.4(COL1A2):c.766G>A (p.Gly256Ser)	COL1A2 (G256S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3760971	NM_000089.4(COL1A2):c.1310A>T (p.Asp437Val)	COL1A2 (D437V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3760843	NM_000089.4(COL1A2):c.3992A>G (p.Tyr1331Cys)	COL1A2 (Y1331C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3760749	NM_000089.4(COL1A2):c.279+18T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3760671	NM_000089.4(COL1A2):c.3846G>C (p.Glu1282Asp)	COL1A2 (E1282D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3760572	NM_000089.4(COL1A2):c.3001C>T (p.Pro1001Ser)	COL1A2 (P1001S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3760551	NM_000089.4(COL1A2):c.3092T>A (p.Leu1031Gln)	COL1A2 (L1031Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3760488	NM_000089.4(COL1A2):c.1249A>G (p.Met417Val)	COL1A2 (M417V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3760438	NM_000089.4(COL1A2):c.3470del (p.Lys1157fs)	COL1A2 (K1157fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3760322	NM_000089.4(COL1A2):c.225+13A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3760177	NM_000089.4(COL1A2):c.433-6G>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3760079	NM_000089.4(COL1A2):c.792+1G>C	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759821	NM_000089.4(COL1A2):c.1251_1251+17dup	COL1A2	Duplication (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3759789	NM_000089.4(COL1A2):c.144C>G (p.Gly48=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3759783	NM_000089.4(COL1A2):c.693+12C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3759703	NM_000089.4(COL1A2):c.465G>A (p.Glu155=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3759624	NM_000089.4(COL1A2):c.3636A>G (p.Pro1212=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3759549	NM_000089.4(COL1A2):c.1972-5T>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3759320	NM_000089.4(COL1A2):c.3160-17G>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3759254	NM_000089.4(COL1A2):c.1005T>C (p.Ala335=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3759192	NM_000089.4(COL1A2):c.487-3A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3759122	NM_000089.4(COL1A2):c.3527G>T (p.Gly1176Val)	COL1A2 (G1176V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3759121	NM_000089.4(COL1A2):c.3107G>T (p.Gly1036Val)	COL1A2 (G1036V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759120	NM_000089.4(COL1A2):c.3016G>A (p.Gly1006Ser)	COL1A2 (G1006S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759119	NM_000089.4(COL1A2):c.2638G>A (p.Gly880Ser)	COL1A2 (G880S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759118	NM_000089.4(COL1A2):c.1586G>A (p.Gly529Asp)	COL1A2 (G529D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759117	NM_000089.4(COL1A2):c.955G>A (p.Gly319Arg)	COL1A2 (G319R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759116	NM_000089.4(COL1A2):c.928G>C (p.Gly310Arg)	COL1A2 (G310R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759115	NM_000089.4(COL1A2):c.792+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759114	NM_000089.4(COL1A2):c.693+2T>A	COL1A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3759113	NM_000089.4(COL1A2):c.595G>C (p.Gly199Arg)	COL1A2 (G199R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3758919	NM_000089.4(COL1A2):c.844C>T (p.Arg282Cys)	COL1A2 (R282C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758897	NM_000089.4(COL1A2):c.3814T>A (p.Cys1272Ser)	COL1A2 (C1272S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3758896	NM_000089.4(COL1A2):c.3782C>G (p.Ala1261Gly)	COL1A2 (A1261G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758895	NM_000089.4(COL1A2):c.3695T>A (p.Ile1232Asn)	COL1A2 (I1232N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758894	NM_000089.4(COL1A2):c.2908G>T (p.Gly970Cys)	COL1A2 (G970C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3758893	NM_000089.4(COL1A2):c.2015A>G (p.Asp672Gly)	COL1A2 (D672G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758892	NM_000089.4(COL1A2):c.1810G>A (p.Gly604Ser)	COL1A2 (G604S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 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 3758890	NM_000089.4(COL1A2):c.1345C>T (p.Pro449Ser)	COL1A2 (P449S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758889	NM_000089.4(COL1A2):c.1216G>T (p.Gly406Cys)	COL1A2 (G406C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 3758888	NM_000089.4(COL1A2):c.683C>G (p.Pro228Arg)	COL1A2 (P228R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758887	NM_000089.4(COL1A2):c.494G>T (p.Arg165Leu)	COL1A2 (R165L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758875	NM_000089.4(COL1A2):c.2188-11A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3758781	NM_000089.4(COL1A2):c.817G>A (p.Ala273Thr)	COL1A2 (A273T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758300	NM_000089.4(COL1A2):c.3730G>A (p.Gly1244Arg)	COL1A2 (G1244R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758183	NM_000089.4(COL1A2):c.192_200dup (p.Gly72_Leu73insProProGly)	COL1A2	Duplication (inframe_insertion)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758169	NM_000089.4(COL1A2):c.1645C>A (p.Pro549Thr)	COL1A2 (P549T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3758054	NM_000089.4(COL1A2):c.792+4A>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3757863	NM_000089.4(COL1A2):c.2079+20A>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3757451	NM_000089.4(COL1A2):c.2206G>A (p.Gly736Ser)	COL1A2 (G736S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 3757105	NM_000089.4(COL1A2):c.4063G>C (p.Glu1355Gln)	COL1A2 (E1355Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3757057	NM_000089.4(COL1A2):c.772C>A (p.Pro258Thr)	COL1A2 (P258T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3756847	NM_000089.4(COL1A2):c.1828G>A (p.Gly610Ser)	COL1A2 (G610S)	Single nucleotide variant (missense variant)	Osteoporosis +2 more	GLikely pathogenic
Select item 3756783	NM_000089.4(COL1A2):c.693+11_693+14del	COL1A2	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 3756750	NM_000089.4(COL1A2):c.3832T>A (p.Tyr1278Asn)	COL1A2 (Y1278N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance

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