C0023931[trait identifier] AND "Department of Medical Sciences, Uppsal - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425658	NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)	COL1A2 (G109D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 265387	NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)	COL1A2 (G193S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic
Select item 425660	NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)	COL1A2 (G265R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425661	NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)	COL1A2 (G265D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425662	NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)	COL1A2 (G286S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425663	NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)	COL1A2 (G292S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425643	NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	COL1A2 (G337S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +8 more	GPathogenic
Select item 425645	NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)	COL1A2 (G391S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 425646	NM_000089.4(COL1A2):c.1197+5G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GPathogenic
Select item 425647	NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)	COL1A2 (R423H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GUncertain significance
Select item 425649	NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)	COL1A2 (G601S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +5 more	GPathogenic
Select item 425653	NM_000089.4(COL1A2):c.2835+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic
Select item 216908	NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	COL1A2 (G1012S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +9 more	GPathogenic/Likely pathogenic
Select item 425659	NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys)	COL1A2 (G1102C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425632	NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)	COL1A1 (F1463fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425631	NM_000088.4(COL1A1):c.4332dup (p.Asp1446fs)	COL1A1 (D1446fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425629	NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile)	COL1A1 (T1431I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425628	NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu)	COL1A1 (D1413E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 425626	NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)	COL1A1 (G1272V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 425625	NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val)	COL1A1 (M1264V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425624	NM_000088.4(COL1A1):c.3788del (p.Lys1263fs)	COL1A1 (K1263fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425623	NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs)	COL1A1 (S1251fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425621	NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter)	COL1A1 (Q1203*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 282016	NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)	COL1A1 (G1190fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425589	NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)	COL1A1 (G1169S)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 425620	NM_000088.4(COL1A1):c.3424-6C>G	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 425619	NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs)	COL1A1 (V1078fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 17322	NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)	COL1A1 (G1079S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 425618	NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	COL1A1 (G1076S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic/Likely pathogenic
Select item 17330	NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)	COL1A1 (G1040S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +2 more	GPathogenic
Select item 425587	NM_000088.4(COL1A1):c.3045+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425616	NM_000088.4(COL1A1):c.3026del (p.Pro1009fs)	COL1A1 (P1009fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425615	NM_000088.4(COL1A1):c.2934del (p.Ser979fs)	COL1A1 (S979fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425586	NM_000088.4(COL1A1):c.2881del (p.Val961fs)	COL1A1 (V961fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425614	NM_000088.4(COL1A1):c.2668-1G>A	COL1A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 425613	NM_000088.4(COL1A1):c.2667+3_2667+6del	COL1A1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 425612	NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser)	COL1A1 (G866S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425585	NM_000088.4(COL1A1):c.2550del (p.Gly851fs)	COL1A1 (G851fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 425584	NM_000088.4(COL1A1):c.2549del (p.Pro850fs)	COL1A1 (P850fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425611	NM_000088.4(COL1A1):c.2525del (p.Gly842fs)	COL1A1 (G842fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425610	NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser)	COL1A1 (G821S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic
Select item 425609	NM_000088.4(COL1A1):c.2424dup (p.Gly809fs)	COL1A1 (G809fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425583	NM_000088.4(COL1A1):c.2343+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 425606	NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)	COL1A1 (G719S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425605	NM_000088.4(COL1A1):c.2091_2092del (p.Ala699fs)	COL1A1 (A699fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 287320	NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)	COL1A1 (R697*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +7 more	GPathogenic
Select item 425580	NM_000088.4(COL1A1):c.1821+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +9 more	GPathogenic
Select item 425603	NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)	COL1A1 (R598*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta +3 more	GPathogenic
Select item 265433	NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	COL1A1 (G560S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 425602	NM_000088.4(COL1A1):c.1611del (p.Lys538fs)	COL1A1 (K538fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425582	NM_000088.4(COL1A1):c.1379del (p.Pro460fs)	COL1A1 (P460fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 372754	NM_000088.4(COL1A1):c.1354-12G>A	COL1A1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 425599	NM_000088.4(COL1A1):c.1299+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic
Select item 425579	NM_000088.4(COL1A1):c.1292del (p.Gly431fs)	COL1A1 (G431fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425578	NM_000088.4(COL1A1):c.1269del (p.Gly424fs)	COL1A1 (G424fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425598	NM_000088.4(COL1A1):c.1261del (p.Gln421fs)	COL1A1 (Q421fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425597	NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)	COL1A1 (R415*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +8 more	GConflicting classifications of pathogenicity
Select item 425596	NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser)	COL1A1 (G401S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425581	NM_000088.4(COL1A1):c.1127dup (p.Gly377fs)	COL1A1 (G377fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425594	NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs)	COL1A1 (S363fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425593	NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)	COL1A1 (R361*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 425591	NM_000088.4(COL1A1):c.1002+2T>C	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 17312	NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)	COL1A1 (G332R)	Single nucleotide variant (missense variant)	COL1A1-related disorder +9 more	GPathogenic
Select item 425641	NM_000088.4(COL1A1):c.972_978dup (p.Ala327Ter)	COL1A1 (A327*)	Duplication (nonsense)	Osteogenesis imperfecta type I	GPathogenic
Select item 425642	NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp)	COL1A1 (G326D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425640	NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala)	COL1A1, LOC126862586 (G284A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425590	NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser)	COL1A1, LOC126862586 (G281S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425639	NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)	COL1A1, LOC126862586 (G257R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +10 more	GPathogenic
Select item 425638	NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp)	COL1A1, LOC126862586 (G251D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425637	NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)	COL1A1 (R220*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 425635	NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys)	COL1A1 (G197C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 35925	NM_000088.4(COL1A1):c.579del (p.Gly194fs)	COL1A1 (G194fs)	Deletion (frameshift variant)	Postmenopausal osteoporosis +3 more	GPathogenic/Likely pathogenic
Select item 425634	NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)	COL1A1 (G188D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 425633	NM_000088.4(COL1A1):c.458dup (p.Gly154fs)	COL1A1 (G154fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 425630	NM_000088.4(COL1A1):c.432dup (p.Gly145fs)	COL1A1 (G145fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425588	NM_000088.4(COL1A1):c.333+2T>C	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425595	NM_000088.4(COL1A1):c.111_117del (p.Ile38fs)	COL1A1 (I38fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 425666	Single allele	PDK2, SGCA +4 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 425601	NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]			Osteogenesis imperfecta type I	GLikely pathogenic

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Items: 79