"COL11A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1515896	NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)	COL11A1 (Q1752R +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2630909	NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs)	COL11A1 (N1670fs +3 more)	Duplication (frameshift variant +1 more)	COL11A1-related disorder +1 more	GUncertain significance
Select item 198360	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	COL11A1, LOC126805814 (R1745H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 806176	NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GLikely benign
Select item 392007	NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	COL11A1 (T1601N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1373782	NM_001854.4(COL11A1):c.4763A>G (p.Gln1588Arg)	COL11A1 (Q1549R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1188027	NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GLikely benign
Select item 1418086	NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	COL11A1 (L1531P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1186423	NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GBenign/Likely benign
Select item 1540103	NM_001854.4(COL11A1):c.4609-8C>A	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1203770	NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 291500	NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)	COL11A1 (P1511S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 198019	NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)	COL11A1 (D1484E +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +5 more	GBenign/Likely benign
Select item 1576666	NM_001854.4(COL11A1):c.4380G>A (p.Leu1460=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GLikely benign
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 2637383	NM_001854.4(COL11A1):c.4303-1G>C	COL11A1	Single nucleotide variant (splice acceptor variant)	COL11A1-related disorder	GLikely pathogenic
Select item 3051089	NM_001854.4(COL11A1):c.4249-3T>C	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 3051653	NM_001854.4(COL11A1):c.4203A>G (p.Ala1401=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder	GLikely benign
Select item 1089460	NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)	COL11A1 (Q1282P +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1957904	NM_001854.4(COL11A1):c.4176C>T (p.Thr1392=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1495389	NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GLikely benign
Select item 514876	NM_001854.4(COL11A1):c.4087-4A>G	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3031281	NM_001854.4(COL11A1):c.4071T>G (p.Gly1357=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder	GLikely benign
Select item 197964	NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)	COL11A1 (A1365T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 1424069	NM_001854.4(COL11A1):c.3874C>A (p.Pro1292Thr)	COL11A1 (P1176T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1554319	NM_001854.4(COL11A1):c.3817-15_3817-13dup	COL11A1	Duplication (intron variant)	COL11A1-related disorder +1 more	GBenign/Likely benign
Select item 1599104	NM_001854.4(COL11A1):c.3817-14_3817-13del	COL11A1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1627745	NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Intervertebral disc disorder +6 more	GLikely benign
Select item 3029370	NM_001854.4(COL11A1):c.3708+436A>G	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 2008903	NM_001854.4(COL11A1):c.3492+9T>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder +1 more	GLikely benign
Select item 2630884	NM_001854.4(COL11A1):c.3492+1_3492+3del	COL11A1	Deletion (splice donor variant)	COL11A1-related disorder	GLikely pathogenic
Select item 1364086	NM_001854.4(COL11A1):c.3492+3G>A	COL11A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439187	NM_001854.4(COL11A1):c.3438+2T>C	COL11A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3031585	NM_001854.4(COL11A1):c.3397G>A (p.Glu1133Lys)	COL11A1 (E1017K +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 2996012	NM_001854.4(COL11A1):c.3385-8A>C	COL11A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 444174	NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3060584	NM_001854.4(COL11A1):c.3259G>A (p.Gly1087Arg)	COL11A1 (G1048R +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 3047374	NM_001854.4(COL11A1):c.3175C>T (p.Pro1059Ser)	COL11A1 (P1020S +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 1990098	NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)	COL11A1 (P1020A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3053670	NM_001854.4(COL11A1):c.3169-2A>G	COL11A1	Single nucleotide variant (splice acceptor variant)	COL11A1-related disorder	GLikely pathogenic
Select item 738607	NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1206960	NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	COL11A1 (A1023E +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +6 more	GConflicting classifications of pathogenicity
Select item 737759	NM_001854.4(COL11A1):c.2922A>C (p.Pro974=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 197066	NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)	COL11A1 (P986Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 507173	NM_001854.4(COL11A1):c.2916+3A>G	COL11A1	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1687305	NM_001854.4(COL11A1):c.2916+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	COL11A1-related disorder +2 more	GPathogenic/Likely pathogenic
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 3055079	NM_001854.4(COL11A1):c.2886T>C (p.Pro962=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder	GLikely benign
Select item 3054135	NM_001854.4(COL11A1):c.2862+9C>T	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 3038687	NM_001854.4(COL11A1):c.2862+2_2862+3del	COL11A1	Deletion (splice donor variant)	COL11A1-related disorder	GPathogenic
Select item 3048826	NM_001854.4(COL11A1):c.2710-7G>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 3036103	NM_001854.4(COL11A1):c.2709+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	COL11A1-related disorder	GLikely pathogenic
Select item 2636763	NM_001854.4(COL11A1):c.2677G>A (p.Ala893Thr)	COL11A1 (A777T +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 2633890	NM_001854.4(COL11A1):c.2650C>T (p.Pro884Ser)	COL11A1 (P768S +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 289687	NM_001854.4(COL11A1):c.2610+9T>C	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 674755	NM_001854.4(COL11A1):c.2556+96C>G	COL11A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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	GConflicting classifications of pathogenicity
Select item 721212	NM_001854.4(COL11A1):c.2340+9_2340+13del	COL11A1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1597514	NM_001854.4(COL11A1):c.2295+6G>A	COL11A1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2794315	NM_001854.4(COL11A1):c.2247C>G (p.Pro749=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2629128	NM_001854.4(COL11A1):c.2177C>T (p.Pro726Leu)	COL11A1 (P610L +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GUncertain significance
Select item 3033930	NM_001854.4(COL11A1):c.2138A>G (p.Glu713Gly)	COL11A1 (E597G +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 514845	NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1599795	NM_001854.4(COL11A1):c.2098-4dup	COL11A1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1443407	NM_001854.4(COL11A1):c.2043+4T>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2179335	NM_001854.4(COL11A1):c.1999-9T>C	COL11A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3048534	NM_001854.4(COL11A1):c.1974A>C (p.Gly658=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder	GLikely benign
Select item 1149332	NM_001854.4(COL11A1):c.1945-7C>T	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder +1 more	GLikely benign
Select item 681382	NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +3 more	GConflicting classifications of pathogenicity
Select item 291528	NM_001854.4(COL11A1):c.1899+3A>G	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2 +3 more	GUncertain significance
Select item 1624889	NM_001854.4(COL11A1):c.1833C>T (p.Asp611=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2633892	NM_001854.4(COL11A1):c.1791G>A (p.Lys597=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 1575331	NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala)	COL11A1 (T457A +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GBenign/Likely benign
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 291533	NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 1450766	NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile)	COL11A1 (L369I +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 547201	NM_001854.4(COL11A1):c.1309-7G>A	COL11A1	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1202289	NM_001854.4(COL11A1):c.1246-6C>T	COL11A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2632889	NM_001854.4(COL11A1):c.1186C>T (p.Pro396Ser)	COL11A1 (P357S +2 more)	Single nucleotide variant (missense variant +2 more)	COL11A1-related disorder	GUncertain significance
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 1200169	NM_001854.4(COL11A1):c.1043A>T (p.Tyr348Phe)	COL11A1 (Y309F +2 more)	Single nucleotide variant (missense variant +2 more)	COL11A1-related disorder +1 more	GUncertain significance
Select item 198777	NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)	COL11A1 (E353Q +2 more)	Single nucleotide variant (missense variant +2 more)	Stickler syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 3061585	NM_001854.4(COL11A1):c.991-32G>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 3032673	NM_001854.4(COL11A1):c.991-33T>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 1210009	NM_001854.4(COL11A1):c.990+8G>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder +1 more	GLikely benign
Select item 510759	NM_001854.4(COL11A1):c.990+7C>T	COL11A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 198474	NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	COL11A1 (P334L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3036898	NM_001854.4(COL11A1):c.898-181G>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 1032777	NM_001854.4(COL11A1):c.898-185T>C	COL11A1	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3035758	NM_001854.4(COL11A1):c.898-193G>A	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related disorder	GLikely benign
Select item 1802058	NM_001854.4(COL11A1):c.898-216G>A	COL11A1 (A302T)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GUncertain significance
Select item 1187756	NM_001854.4(COL11A1):c.898-272A>C	COL11A1 (K283T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3055161	NM_001854.4(COL11A1):c.898-300G>A	COL11A1 (A274T)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	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 +1 more	GConflicting classifications of pathogenicity
Select item 668170	NM_001854.4(COL11A1):c.882A>G (p.Thr294=)	COL11A1	Single nucleotide variant (synonymous variant +2 more)	COL11A1-related disorder +1 more	GLikely benign
Select item 1664777	NM_001854.4(COL11A1):c.792G>A (p.Glu264=)	COL11A1	Single nucleotide variant (synonymous variant +2 more)	COL11A1-related disorder +1 more	GLikely benign
Select item 2629733	NM_001854.4(COL11A1):c.698A>T (p.Tyr233Phe)	COL11A1 (Y233F)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 3032439	NM_001854.4(COL11A1):c.652-8_652-6del	COL11A1	Deletion (intron variant)	COL11A1-related disorder	GLikely benign

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