ClinVar for Gene (Select 1278) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366900	NM_000089.4(COL1A2):c.2025+6T>C	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 3366899	NM_000089.4(COL1A2):c.242A>G (p.Tyr81Cys)	COL1A2 (Y81C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 3366898	NM_000089.4(COL1A2):c.2179G>T (p.Gly727Cys)	COL1A2 (G727C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3366897	NM_000089.4(COL1A2):c.2612G>C (p.Gly871Ala)	COL1A2 (G871A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form	GLikely pathogenic
Select item 3366142	NM_000089.4(COL1A2):c.2465G>T (p.Arg822Leu)	COL1A2 (R822L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365106	NM_000089.4(COL1A2):c.4055C>A (p.Ala1352Asp)	COL1A2 (A1352D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364917	NM_000089.4(COL1A2):c.*6C>T	COL1A2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 3363158	NM_000089.4(COL1A2):c.2187+1G>C	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3363155	NM_000089.4(COL1A2):c.2234G>A (p.Gly745Glu)	COL1A2 (G745E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3361538	NM_000089.4(COL1A2):c.1850C>G (p.Pro617Arg)	COL1A2 (P617R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361537	NM_000089.4(COL1A2):c.1022C>T (p.Ala341Val)	COL1A2 (A341V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361178	NM_000089.4(COL1A2):c.3280C>T (p.Pro1094Ser)	COL1A2 (P1094S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352763	NM_000089.4(COL1A2):c.1581C>A (p.Asn527Lys)	COL1A2 (N527K)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GUncertain significance
Select item 3352665	NM_000089.4(COL1A2):c.1252-23G>T	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	GLikely benign
Select item 3347781	NM_000089.4(COL1A2):c.325-24_325-1del	COL1A2	Deletion (splice acceptor variant)	COL1A2-related disorder	GUncertain significance
Select item 3345514	NM_000089.4(COL1A2):c.325G>A (p.Gly109Ser)	COL1A2 (G109S)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 3344912	NM_000089.4(COL1A2):c.650G>A (p.Gly217Glu)	COL1A2 (G217E)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 3340561	NM_000089.4(COL1A2):c.1658G>T (p.Gly553Val)	COL1A2 (G553V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3338018	NM_000089.4(COL1A2):c.1207G>T (p.Gly403Cys)	COL1A2 (G403C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3337937	NM_000089.4(COL1A2):c.1971+1G>T	COL1A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3337936	NM_000089.4(COL1A2):c.1451G>T (p.Gly484Val)	COL1A2 (G484V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337934	NM_000089.4(COL1A2):c.982G>T (p.Gly328Cys)	COL1A2 (G328C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337933	NM_000089.4(COL1A2):c.324+1G>C	COL1A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3268614	NM_000089.4(COL1A2):c.3339T>C (p.Asp1113=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268613	NM_000089.4(COL1A2):c.3324T>C (p.Tyr1108=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268612	NM_000089.4(COL1A2):c.3756C>T (p.Thr1252=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268610	NM_000089.4(COL1A2):c.2977G>T (p.Val993Phe)	COL1A2 (V993F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3268609	NM_000089.4(COL1A2):c.609C>T (p.Ala203=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3268608	NM_000089.4(COL1A2):c.512C>T (p.Pro171Leu)	COL1A2 (P171L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3257375	NM_000089.4(COL1A2):c.3103G>A (p.Ala1035Thr)	COL1A2 (A1035T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253585	NM_000089.4(COL1A2):c.3305G>T (p.Gly1102Val)	COL1A2 (G1102V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3252707	NM_000089.4(COL1A2):c.2863G>A (p.Gly955Ser)	COL1A2 (G955S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3252549	NM_000089.4(COL1A2):c.1958G>A (p.Gly653Asp)	COL1A2 (G653D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252204	NM_000089.4(COL1A2):c.3322T>A (p.Tyr1108Asn)	COL1A2 (Y1108N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252038	NM_000089.4(COL1A2):c.928G>A (p.Gly310Ser)	COL1A2 (G310S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245693	NC_000007.13:g.(?_94028341)_(94030952_?)del	COL1A2	Deletion	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3245692	NC_000007.13:g.(?_94024344)_(94285410_?)del	CASD1, COL1A2 +1 more	Deletion	Ehlers-Danlos syndrome, classic type, 1 +1 more	GPathogenic
Select item 3242194	NM_000089.4(COL1A2):c.2404G>A (p.Gly802Ser)	COL1A2 (G802S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
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 3234650	NM_000089.4(COL1A2):c.1294C>G (p.Arg432Gly)	COL1A2 (R432G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3230290	NM_000089.4(COL1A2):c.786C>T (p.Gly262=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230289	NM_000089.4(COL1A2):c.4083C>T (p.Gly1361=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230288	NM_000089.4(COL1A2):c.4058A>G (p.Asp1353Gly)	COL1A2 (D1353G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230287	NM_000089.4(COL1A2):c.3910G>A (p.Gly1304Ser)	COL1A2 (G1304S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230286	NM_000089.4(COL1A2):c.346C>A (p.Pro116Thr)	COL1A2 (P116T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230285	NM_000089.4(COL1A2):c.342A>G (p.Gln114=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230284	NM_000089.4(COL1A2):c.3175T>C (p.Ser1059Pro)	COL1A2 (S1059P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230283	NM_000089.4(COL1A2):c.3102C>A (p.Ile1034=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230282	NM_000089.4(COL1A2):c.3048C>A (p.Pro1016=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230281	NM_000089.4(COL1A2):c.2970T>G (p.Ala990=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230280	NM_000089.4(COL1A2):c.2934T>C (p.Arg978=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230278	NM_000089.4(COL1A2):c.225+5G>A	COL1A2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230277	NM_000089.4(COL1A2):c.1434C>T (p.Gly478=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230276	NM_000089.4(COL1A2):c.1138A>C (p.Lys380Gln)	COL1A2 (K380Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230275	NM_000089.4(COL1A2):c.1014T>A (p.Ala338=)	COL1A2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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)	Osteogenesis imperfecta with normal sclerae, dominant form +4 more	Gnot provided
Select item 3050714	NM_000089.4(COL1A2):c.1252-29C>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	GLikely benign
Select item 3036963	NM_000089.4(COL1A2):c.3998C>T (p.Thr1333Ile)	COL1A2 (T1333I)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GUncertain significance
Select item 3032861	NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)	COL1A2 (G967V)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 3031364	NM_000089.4(COL1A2):c.1217G>A (p.Gly406Asp)	COL1A2 (G406D)	Single nucleotide variant (missense variant)	COL1A2-related disorder	GLikely pathogenic
Select item 3031081	NM_000089.4(COL1A2):c.81+9A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	GLikely benign
Select item 3030367	NM_000089.4(COL1A2):c.1350+3A>G	COL1A2	Single nucleotide variant (intron variant)	COL1A2-related disorder	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)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2954296	NM_000089.4(COL1A2):c.98G>T (p.Gly33Val)	COL1A2 (G33V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2954292	NM_000089.4(COL1A2):c.3469A>G (p.Lys1157Glu)	COL1A2 (K1157E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953897	NM_000089.4(COL1A2):c.778G>A (p.Ala260Thr)	COL1A2 (A260T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953770	NM_000089.4(COL1A2):c.133-19C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953762	NM_000089.4(COL1A2):c.3822C>G (p.Asn1274Lys)	COL1A2 (N1274K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953761	NM_000089.4(COL1A2):c.3621A>T (p.Gln1207His)	COL1A2 (Q1207H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953730	NM_000089.4(COL1A2):c.1188T>C (p.Pro396=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953416	NM_000089.4(COL1A2):c.2998-18C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953269	NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)	COL1A2 (G685C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2953147	NM_000089.4(COL1A2):c.2145T>G (p.Gly715=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2953083	NM_000089.4(COL1A2):c.3633C>G (p.Ile1211Met)	COL1A2 (I1211M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2953009	NM_000089.4(COL1A2):c.3249G>T (p.Gln1083His)	COL1A2 (Q1083H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2952919	NM_000089.4(COL1A2):c.2026-5A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952764	NM_000089.4(COL1A2):c.325-19C>T	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952532	NM_000089.4(COL1A2):c.1383C>A (p.Pro461=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952503	NM_000089.4(COL1A2):c.70+8C>A	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952303	NM_000089.4(COL1A2):c.346C>T (p.Pro116Ser)	COL1A2 (P116S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2952293	NM_000089.4(COL1A2):c.541-9T>C	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952262	NM_000089.4(COL1A2):c.855G>A (p.Val285=)	COL1A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2952148	NM_000089.4(COL1A2):c.3733G>A (p.Val1245Met)	COL1A2 (V1245M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2952035	NM_000089.4(COL1A2):c.1350+13C>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2951926	NM_000089.4(COL1A2):c.1351-9A>G	COL1A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +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

<< First< Prev

Page of 10