cirsium triple - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167868	NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)	COL8A2 (Q455V +1 more)	Indel (missense variant)	Corneal dystrophy, Fuchs endothelial, 1	GPathogenic
Select item 297291	NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)	COL9A2 (G612R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1217758	NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)	COL9A2 (V585M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297297	NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	COL9A2 (Q467R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1199096	NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)	COL9A2 (P228S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1174415	NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)	COL9A2 (P73S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2444611	NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu)	COL11A1 (F1688L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878855	NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)	COL11A1 (G1684C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047474	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	COL11A1 (G1757R +3 more)	Single nucleotide variant (missense variant +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 1939269	NM_001854.4(COL11A1):c.5329C>G (p.Gln1777Glu)	COL11A1 (Q1738E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2505905	NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp)	COL11A1 (E1648D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284750	NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)	COL11A1, LOC126805814 (A1770V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1449987	NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)	COL11A1, LOC126805814 (H1715L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1001761	NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)	COL11A1, LOC126805814 (T1595I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1702542	NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln)	COL11A1, LOC126805814 (R1591Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1369352	NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp)	COL11A1, LOC126805814 (R1719W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1311019	NM_001854.4(COL11A1):c.5099A>C (p.Lys1700Thr)	COL11A1, LOC126805814 (K1584T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1193496	NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val)	COL11A1 (G1513V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309856	NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys)	COL11A1 (Y1506C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976000	NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)	COL11A1 (R1566Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 392007	NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	COL11A1 (T1601N +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1301266	NM_001854.4(COL11A1):c.4792G>A (p.Gly1598Ser)	COL11A1 (G1482S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663226	NM_001854.4(COL11A1):c.4771G>A (p.Glu1591Lys)	COL11A1 (E1475K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499281	NM_001854.4(COL11A1):c.4717T>G (p.Ser1573Ala)	COL11A1 (S1457A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1418086	NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	COL11A1 (L1531P +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1065055	NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)	COL11A1 (D1451G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1380533	NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)	COL11A1 (D1566Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3367831	NM_001854.4(COL11A1):c.4694C>T (p.Ala1565Val)	COL11A1 (A1449V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302271	NM_001854.4(COL11A1):c.4660A>C (p.Thr1554Pro)	COL11A1 (T1438P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346120	NM_001854.4(COL11A1):c.4609G>T (p.Gly1537Cys)	COL11A1 (G1421C +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GLikely pathogenic
Select item 498797	NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	COL11A1 (G1516V +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +3 more	GPathogenic/Likely pathogenic
Select item 449528	NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp)	COL11A1 (G1513D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 382691	NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro)	COL11A1 (Q1509P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1304444	NM_001854.4(COL11A1):c.4518+5G>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3040363	NM_001854.4(COL11A1):c.4357G>C (p.Gly1453Arg)	COL11A1 (G1337R +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GLikely pathogenic
Select item 2630749	NM_001854.4(COL11A1):c.4323_4340del (p.Leu1442_Gly1447del)	COL11A1	Deletion (inframe_indel +2 more)	COL11A1-related disorder	GLikely pathogenic
Select item 291505	NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	COL11A1 (G1408S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +6 more	GConflicting classifications of pathogenicity
Select item 1202433	NM_001854.4(COL11A1):c.4177G>A (p.Gly1393Ser)	COL11A1 (G1277S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3347115	NM_001854.4(COL11A1):c.4151G>T (p.Gly1384Val)	COL11A1 (G1268V +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GLikely pathogenic
Select item 3059956	NM_001854.4(COL11A1):c.3980G>A (p.Gly1327Asp)	COL11A1 (G1211D +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 2572997	NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)	COL11A1 (A1179fs +3 more)	Deletion (frameshift variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 430119	NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)	COL11A1 (E1277D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 976188	NM_001854.4(COL11A1):c.3816+1G>C	COL11A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 39776	NM_001854.4(COL11A1):c.3816+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2 +3 more	GPathogenic
Select item 444173	NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)	COL11A1 (A1272E +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 1207208	NM_001854.4(COL11A1):c.3708+2T>C	COL11A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2136092	NM_001854.4(COL11A1):c.3655-2A>G	COL11A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 426318	NM_001854.4(COL11A1):c.3652A>G (p.Met1218Val)	COL11A1 (M1218V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1002231	NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro)	COL11A1 (Q1065P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2446721	NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)	COL11A1 (G1055D +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 1800503	NM_001854.4(COL11A1):c.3429G>C (p.Lys1143Asn)	COL11A1 (K1027N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1503133	NM_001854.4(COL11A1):c.3276+5G>A	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 3350229	NM_001854.4(COL11A1):c.3062G>A (p.Gly1021Glu)	COL11A1 (G1021E +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GLikely pathogenic
Select item 1693331	NM_001854.4(COL11A1):c.2951G>A (p.Arg984His)	COL11A1 (R868H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3033739	NM_001854.4(COL11A1):c.2899G>A (p.Gly967Arg)	COL11A1 (G851R +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 1189120	NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val)	COL11A1 (G725V +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GLikely pathogenic
Select item 1304338	NM_001854.4(COL11A1):c.2241+5G>T	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1056960	NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)	COL11A1 (K628R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1155611	NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)	COL11A1 (D613E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1376360	NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg)	COL11A1 (Q601R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3345802	NM_001854.4(COL11A1):c.2026G>C (p.Gly676Arg)	COL11A1 (G560R +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GLikely pathogenic
Select item 1307849	NM_001854.4(COL11A1):c.2024C>T (p.Pro675Leu)	COL11A1 (P559L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1946210	NM_001854.4(COL11A1):c.1846G>A (p.Gly616Ser)	COL11A1 (G500S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1498055	NM_001854.4(COL11A1):c.1791+1G>T	COL11A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 29646	NM_001854.4(COL11A1):c.1786dup (p.Ala596fs)	COL11A1 (A557fs +3 more)	Duplication (frameshift variant +1 more)	Fibrochondrogenesis	GPathogenic
Select item 265698	NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp)	COL11A1 (G562D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1709094	NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)	COL11A1 (G443D +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 372792	NM_001854.4(COL11A1):c.1630-2del	COL11A1	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 502485	NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)	COL11A1 (T508A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291535	NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)	COL11A1 (R476H +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1208162	NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys)	COL11A1 (R360C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1486618	NM_001854.4(COL11A1):c.1367C>T (p.Pro456Leu)	COL11A1 (P456L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683983	NM_001854.4(COL11A1):c.1350+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2442473	NM_001854.4(COL11A1):c.1324G>A (p.Gly442Arg)	COL11A1 (G326R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308974	NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys)	COL11A1 (E325K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1056854	NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)	COL11A1 (A305V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3340922	NM_001854.4(COL11A1):c.1252G>T (p.Gly418Cys)	COL11A1 (G302C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312489	NM_001854.4(COL11A1):c.1245C>A (p.Ser415Arg)	COL11A1 (S376R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1057367	NM_001854.4(COL11A1):c.1244G>A (p.Ser415Asn)	COL11A1 (S376N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2581796	NM_001854.4(COL11A1):c.1232T>C (p.Ile411Thr)	COL11A1 (I372T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1301482	NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp)	COL11A1 (G365D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1191016	NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)	COL11A1 (G365S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1151636	NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)	COL11A1 (E351G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1084797	NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)	COL11A1 (E341K +2 more)	Single nucleotide variant (missense variant +2 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2446282	NM_001854.4(COL11A1):c.1081G>A (p.Glu361Lys)	COL11A1 (E322K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 452469	NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)	COL11A1 (S355P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1364021	NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn)	COL11A1 (K353N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1486056	NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp)	COL11A1 (R352W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1198815	NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys)	COL11A1 (Q312K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 373597	NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)	COL11A1 (D347N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1911139	NM_001854.4(COL11A1):c.991C>T (p.Pro331Ser)	COL11A1 (P292S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 198474	NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	COL11A1 (P334L +2 more)	Single nucleotide variant (missense variant +2 more)	Fibrochondrogenesis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1105830	NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)	COL11A1 (D266Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1021355	NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)	COL11A1 (V264I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1314428	NM_001854.4(COL11A1):c.898-187G>T	COL11A1 (K311N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1196356	NM_001854.4(COL11A1):c.898-201A>G	COL11A1 (K307E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212109	NM_001854.4(COL11A1):c.898-263C>T	COL11A1 (P286L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1187756	NM_001854.4(COL11A1):c.898-272A>C	COL11A1 (K283T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676931	NM_001854.4(COL11A1):c.898-285G>C	COL11A1 (E279Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1137995	NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)	COL11A1 (T298A)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity

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