ClinVar for Gene (Select 1278) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064106	NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)	COL1A2 (G100D)	Single nucleotide variant (missense variant)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	GLikely pathogenic
Select item 3064039	NM_000089.4(COL1A2):c.67C>T (p.Gln23Ter)	COL1A2 (Q23*)	Single nucleotide variant (nonsense)	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +4 more	Gnot provided
Select item 3050714	NM_000089.4(COL1A2):c.1252-29C>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition	GLikely benign
Select item 3036963	NM_000089.4(COL1A2):c.3998C>T (p.Thr1333Ile)	COL1A2 (T1333I)	Single nucleotide variant (missense variant)	COL1A2-related condition	GUncertain significance
Select item 3032861	NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)	COL1A2 (G967V)	Single nucleotide variant (missense variant)	COL1A2-related condition	GLikely pathogenic
Select item 3031364	NM_000089.4(COL1A2):c.1217G>A (p.Gly406Asp)	COL1A2 (G406D)	Single nucleotide variant (missense variant)	COL1A2-related condition	GLikely pathogenic
Select item 3031081	NM_000089.4(COL1A2):c.81+9A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition	GLikely benign
Select item 3030367	NM_000089.4(COL1A2):c.1350+3A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition	GLikely benign
Select item 3027129	NM_000089.4(COL1A2):c.2426C>A (p.Pro809His)	COL1A2 (P809H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026184	NM_000089.4(COL1A2):c.125G>A (p.Gly42Glu)	COL1A2 (G42E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954461	NM_000089.4(COL1A2):c.278T>C (p.Met93Thr)	COL1A2 (M93T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2954296	NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)	COL1A2 (G33V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2954292	NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)	COL1A2 (K1157E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2953897	NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)	COL1A2 (A260T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2953770	NM_000089.4(COL1A2):c.133-19C>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2953762	NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)	COL1A2 (N1274K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2953761	NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)	COL1A2 (Q1207H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2953730	NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2953416	NM_000089.4(COL1A2):c.2998-18C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2953269	NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)	COL1A2 (G685C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2953147	NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2953083	NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)	COL1A2 (I1211M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2953009	NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)	COL1A2 (Q1083H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2952919	NM_000089.4(COL1A2):c.2026-5A>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2952764	NM_000089.4(COL1A2):c.325-19C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2952532	NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2952503	NM_000089.4(COL1A2):c.70+8C>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2952303	NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)	COL1A2 (P116S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2952293	NM_000089.4(COL1A2):c.541-9T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2952262	NM_000089.4(COL1A2):c.855G>A (p.Val285=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2952148	NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)	COL1A2 (V1245M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2952035	NM_000089.4(COL1A2):c.1350+13C>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2951926	NM_000089.4(COL1A2):c.1351-9A>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2951624	NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)	COL1A2 (G769S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2951485	NM_000089.4(COL1A2):c.3227C>A (p.Pro1076His)	COL1A2 (P1076H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2951396	NM_000089.4(COL1A2):c.1707A>G (p.Lys569=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2951395	NM_000089.4(COL1A2):c.70+18G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2951347	NM_000089.4(COL1A2):c.1765-2del	COL1A2	Deletion (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2951085	NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)	COL1A2 (G502D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2950900	NM_000089.4(COL1A2):c.3200G>T (p.Arg1067Leu)	COL1A2 (R1067L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950876	NM_000089.4(COL1A2):c.2088T>A (p.Ala696=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2950816	NM_000089.4(COL1A2):c.2188-6_2188-1dup	COL1A2	Duplication (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950794	NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)	COL1A2 (G109R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2950645	NM_000089.4(COL1A2):c.1090-18G>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2950629	NM_000089.4(COL1A2):c.412C>T (p.Pro138Ser)	COL1A2 (P138S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950522	NM_000089.4(COL1A2):c.2782-13G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950429	NM_000089.4(COL1A2):c.245A>G (p.Asp82Gly)	COL1A2 (D82G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2950426	NM_000089.4(COL1A2):c.486+1G>A	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2950227	NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)	COL1A2 (G298V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2950146	NM_000089.4(COL1A2):c.694-1G>C	COL1A2	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2949774	NM_000089.4(COL1A2):c.110A>G (p.Asp37Gly)	COL1A2 (D37G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2949411	NM_000089.4(COL1A2):c.82-6T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2949052	NM_000089.4(COL1A2):c.3974G>A (p.Gly1325Glu)	COL1A2 (G1325E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2949050	NM_000089.4(COL1A2):c.639+4_639+7del	COL1A2	Microsatellite (splice donor variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2948732	NM_000089.4(COL1A2):c.3443C>T (p.Thr1148Ile)	COL1A2 (T1148I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2948723	NM_000089.4(COL1A2):c.3228T>C (p.Pro1076=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2948722	NM_000089.4(COL1A2):c.887C>A (p.Pro296His)	COL1A2 (P296H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2948466	NM_000089.4(COL1A2):c.3678C>T (p.Val1226=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2948244	NM_000089.4(COL1A2):c.2509G>A (p.Val837Ile)	COL1A2 (V837I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2948225	NM_000089.4(COL1A2):c.890C>T (p.Pro297Leu)	COL1A2 (P297L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2947944	NM_000089.4(COL1A2):c.3234C>T (p.Gly1078=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2947446	NM_000089.4(COL1A2):c.2464C>T (p.Arg822Cys)	COL1A2 (R822C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2947211	NM_000089.4(COL1A2):c.739-3C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2946960	NM_000089.4(COL1A2):c.2403+20C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2946877	NM_000089.4(COL1A2):c.595-5T>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2946769	NM_000089.4(COL1A2):c.2944-14T>G	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2946738	NM_000089.4(COL1A2):c.694-5C>T	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2946645	NM_000089.4(COL1A2):c.2038_2055dup (p.Gly685_Pro686insAlaValGlyAlaProGly)	COL1A2	Duplication (inframe_insertion)	Osteogenesis imperfecta type I +1 more	GPathogenic
Select item 2946512	NM_000089.4(COL1A2):c.2329_2331del (p.Arg777del)	COL1A2 (R777del)	Deletion (inframe_deletion)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2946499	NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)	COL1A2 (C1317*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2946497	NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)	COL1A2 (G1090S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2946398	NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)	COL1A2 (G331S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GLikely pathogenic
Select item 2946270	NM_000089.4(COL1A2):c.832C>G (p.Pro278Ala)	COL1A2 (P278A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2945773	NM_000089.4(COL1A2):c.279+7T>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2945741	NM_000089.4(COL1A2):c.978C>G (p.Pro326=)	COL1A2	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type I +1 more	GLikely benign
Select item 2945707	NM_000089.4(COL1A2):c.394C>T (p.Arg132Cys)	COL1A2 (R132C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2945596	NM_000089.4(COL1A2):c.2782-11T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2945563	NM_000089.4(COL1A2):c.597T>C (p.Gly199=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2945561	NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)	COL1A2 (G628D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 2945543	NM_000089.4(COL1A2):c.3711+3G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2945405	NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)	COL1A2	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 2945394	NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)	COL1A2 (G988C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2945135	NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)	COL1A2 (G592D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2945002	NM_000089.4(COL1A2):c.97-7C>T	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related condition +2 more	GLikely benign
Select item 2944962	NM_000089.4(COL1A2):c.3711+6G>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2944695	NM_000089.4(COL1A2):c.1555C>A (p.Arg519=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2944444	NM_000089.4(COL1A2):c.2026-20T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2944426	NM_000089.4(COL1A2):c.1416C>T (p.Gly472=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2944412	NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)	COL1A2	Microsatellite (inframe_insertion)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944354	NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)	COL1A2 (G103D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944253	NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)	COL1A2 (G1078V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944174	NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)	COL1A2 (G910D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2944089	NM_000089.4(COL1A2):c.1864-18A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2944072	NM_000089.4(COL1A2):c.2313C>A (p.Pro771=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2943699	NM_000089.4(COL1A2):c.3049A>G (p.Arg1017Gly)	COL1A2 (R1017G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2943698	NM_000089.4(COL1A2):c.3526+15C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2943694	NM_000089.4(COL1A2):c.719T>C (p.Val240Ala)	COL1A2 (V240A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2943647	NM_000089.4(COL1A2):c.1720-19A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2943428	NM_000089.4(COL1A2):c.2781+16G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type I +1 more	GUncertain significance
Select item 2943286	NM_000089.4(COL1A2):c.1036-1G>T	COL1A2	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type I +1 more	GPathogenic

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