ClinVar for MedGen (Select 78665) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 182

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236715	NM_000089.4(COL1A2):c.3256C>T (p.Gln1086Ter)	COL1A2 (Q1086*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 3236266	NM_000089.4(COL1A2):c.2783G>T (p.Gly928Val)	COL1A2 (G928V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	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 3061969	NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg)	COL1A1 (G1448R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2692362	NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]	COL1A2	Variation	Osteogenesis imperfecta with normal sclerae, dominant form	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 2628085	NM_000089.4(COL1A2):c.1028G>A (p.Gly343Glu)	COL1A2 (G343E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2626748	NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser)	COL1A1 (G1001S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2582559	NM_000089.4(COL1A2):c.1504-2A>G	COL1A2	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 2572450	NM_000088.4(COL1A1):c.1631del (p.Pro544fs)	COL1A1 (P544fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2572380	NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala)	COL1A1 (G890A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 2571594	NM_000089.4(COL1A2):c.821G>T (p.Gly274Val)	COL1A2, COL1A2-AS1 (G274V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2444032	NM_000088.4(COL1A1):c.423del (p.Gly142fs)	COL1A1 (G142fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 2136566	NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)	COL1A2 (G550S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 1806466	NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1806462	NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys)	COL1A2 (G553C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1806457	NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp)	COL1A1 (N1222D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I	GUncertain significance
Select item 1709348	NM_000089.4(COL1A2):c.3355G>A (p.Ala1119Thr)	COL1A2 (A1119T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic/Likely pathogenic
Select item 1708264	NM_000089.4(COL1A2):c.1351G>A (p.Gly451Ser)	COL1A2 (G451S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
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 1687556	NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer)	COL1A1	Deletion (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1687533	NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg)	COL1A2 (G391R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1683639	NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)	COL1A2 (G292C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic/Likely pathogenic
Select item 1683584	NM_000088.4(COL1A1):c.2990dup (p.Gly998fs)	COL1A1 (G998fs)	Duplication (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	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 1498972	NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)	COL1A2 (C1195R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +3 more	GPathogenic/Likely 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 1382447	NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp)	COL1A1, LOC126862586 (G260D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic/Likely pathogenic
Select item 1368199	NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala)	COL1A1 (G413A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GConflicting classifications of pathogenicity
Select item 1333364	NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala)	COL1A1 (G956A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 1302007	NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala)	COL1A2 (G874A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
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 1224430	NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp)	COL1A2 (G835D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1224380	NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)	COL1A2 (G901C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GLikely 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)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +8 more	GPathogenic
Select item 1074344	NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter)	COL1A1 (G602*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	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, perinatal lethal +9 more	GUncertain significance
Select item 993627	NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)	COL1A1 (G365V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +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 975940	NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala)	COL1A2 (G1102A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 972708	NM_000089.4(COL1A2):c.1604G>C (p.Gly535Ala)	COL1A2 (G535A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
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 937217	NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter)	COL1A1 (E1273*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic
Select item 931954	NM_000089.4(COL1A2):c.551G>A (p.Gly184Asp)	COL1A2 (G184D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 931916	NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)	COL1A2 (G769V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 931888	NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser)	COL1A1 (A847S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GUncertain significance
Select item 931711	NM_000088.4(COL1A1):c.3045+11C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GConflicting classifications of pathogenicity
Select item 931602	NM_000088.4(COL1A1):c.2490del (p.Asp831fs)	COL1A1 (D831fs)	Deletion (frameshift variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 931153	NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter)	COL1A1, LOC126862586 (E243*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 931099	NM_000088.4(COL1A1):c.103+16T>C	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 930902	NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)	COL1A1 (G362S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 930893	NM_000089.4(COL1A2):c.71-6C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 930782	NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro)	COL1A1 (R1217P)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GUncertain significance
Select item 930534	NM_000089.4(COL1A2):c.3854A>G (p.Asn1285Ser)	COL1A2 (N1285S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930491	NM_000088.4(COL1A1):c.3532-12C>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GConflicting classifications of pathogenicity
Select item 930288	NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)	COL1A2 (G877S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 872907	NM_000089.4(COL1A2):c.758G>T (p.Gly253Val)	COL1A2 (G253V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 872906	NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe)	COL1A2 (S251F)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 859292	NM_000088.4(COL1A1):c.1127del (p.Pro376fs)	COL1A1 (P376fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +1 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 807555	NM_000089.4(COL1A2):c.3088G>A (p.Gly1030Ser)	COL1A2 (G1030S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GPathogenic
Select item 697683	NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)	COL1A1	Single nucleotide variant (synonymous variant)	Infantile cortical hyperostosis +10 more	GLikely benign
Select item 691334	NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)	COL1A2 (G292D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
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 663292	NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)	COL1A2 (G631V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +3 more	GPathogenic
Select item 644457	NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	COL1A2 (G448R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +7 more	GPathogenic/Likely pathogenic
Select item 639690	NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser)	COL1A1 (G380S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +1 more	GPathogenic
Select item 638318	NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)	COL1A2 (G802V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III +4 more	GLikely pathogenic
Select item 637038	NM_000088.4(COL1A1):c.2523del (p.Gly842fs)	COL1A1 (G842fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 618024	NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser)	COL1A2 (G997S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 618023	NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	COL1A2 (G322S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +5 more	GPathogenic/Likely pathogenic
Select item 579862	NM_000089.4(COL1A2):c.1404+4A>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta with normal sclerae, dominant form +4 more	GUncertain significance
Select item 579070	NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	COL1A2 (G376V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +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)	Cardiovascular phenotype +10 more	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)	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)	Cardiovascular phenotype +10 more	GUncertain significance
Select item 520641	NM_000089.4(COL1A2):c.1557+3A>G	COL1A2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GPathogenic
Select item 517702	NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)	COL1A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not provided +8 more	GPathogenic
Select item 456844	NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)	COL1A2 (G262R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GLikely pathogenic
Select item 456827	NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)	COL1A2 (I954T)	Single nucleotide variant (missense variant)	Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more	GBenign/Likely benign
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 456799	NM_000088.4(COL1A1):c.903+1G>A	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I	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

<< First< Prev

Page of 2