ClinVar for MedGen (Select 347615) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064491	NM_001854.4(COL11A1):c.3233G>C (p.Gly1078Ala)	COL11A1 (G1039A +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance
Select item 3064166	NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)	COL11A1 (G785E +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 2683754	NM_001854.4(COL11A1):c.3762+2T>C	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2	GLikely pathogenic
Select item 2664063	NM_001854.4(COL11A1):c.5041-2A>G	COL11A1, LOC126805814	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 2	GUncertain significance
Select item 2585280	NM_001854.4(COL11A1):c.3515C>T (p.Pro1172Leu)	COL11A1 (P1056L +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance
Select item 2581006	NM_001854.4(COL11A1):c.4140+8A>T	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2	GUncertain significance
Select item 2578029	NM_001854.4(COL11A1):c.4302G>A (p.Met1434Ile)	COL11A1 (M1318I +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	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 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 2444157	NM_001854.4(COL11A1):c.1927G>C (p.Gly643Arg)	COL11A1 (G527R +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance
Select item 2442232	NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)	COL11A1 (G1504D +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +2 more	GUncertain significance
Select item 2431602	NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)	COL11A1 (K1138N +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance
Select item 2431441	NM_001854.4(COL11A1):c.2862+3A>G	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2	GUncertain significance
Select item 2202829	NM_001854.4(COL11A1):c.1191del (p.Asn398fs)	COL11A1 (N410fs +2 more)	Deletion (frameshift variant +2 more)	Stickler syndrome type 2 +1 more	GPathogenic
Select item 1810297	NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)	COL11A1 (R1561G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1709141	NM_001854.4(COL11A1):c.4302+5G>A	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2	GUncertain significance
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 condition +1 more	GConflicting classifications of pathogenicity
Select item 1698902	NM_001854.4(COL11A1):c.1245+6T>A	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2	GUncertain significance
Select item 1698769	NM_001854.4(COL11A1):c.3276+1G>C	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2	GLikely pathogenic
Select item 1687305	NM_001854.4(COL11A1):c.2916+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	COL11A1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1679801	NM_001854.4(COL11A1):c.1351-1G>A	COL11A1	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal dominant 37 +2 more	GUncertain significance
Select item 1627745	NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GLikely benign
Select item 1527953	NM_001854.4(COL11A1):c.1487C>T (p.Pro496Leu)	COL11A1 (P380L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1526226	NM_001854.4(COL11A1):c.3816+6T>G	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2	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 1477869	NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu)	COL11A1 (D1086E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1424272	NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu)	COL11A1 (P1077L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	COL11A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1380051	NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile)	COL11A1 (T1353I +3 more)	Single nucleotide variant (missense variant +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 1357917	NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	COL11A1 (R762Q +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +5 more	GConflicting classifications of pathogenicity
Select item 1356260	NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del)	COL11A1 (K185del)	Microsatellite (inframe_deletion +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 1324096	NM_001854.4(COL11A1):c.1245+1G>A	COL11A1	Single nucleotide variant (splice donor variant +1 more)	Intervertebral disc disorder +5 more	GPathogenic/Likely pathogenic
Select item 1314615	NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)	COL11A1 (P189S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1300948	NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)	COL11A1 (R766C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1236179	NM_001854.4(COL11A1):c.3655-2del	COL11A1	Deletion (splice acceptor variant)	Stickler syndrome type 2	GPathogenic
Select item 1216773	NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	COL11A1 (G722E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1206960	NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	COL11A1 (A1023E +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1184490	NM_001854.4(COL11A1):c.2755-2A>G	COL11A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1184316	NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val)	COL11A1 (G788V +3 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 37 +2 more	GUncertain significance
Select item 1179083	NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	COL11A1 (G1280C +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +4 more	GLikely pathogenic
Select item 1175708	NM_001854.4(COL11A1):c.4519-2del	COL11A1	Deletion (splice acceptor variant)	Hearing loss, autosomal dominant 37 +2 more	GPathogenic
Select item 1174529	NC_000001.10:g.(103388956_103400026)_(104094395_?)del	COL11A1, RNPC3	Deletion	Stickler syndrome type 2 +2 more	GLikely pathogenic
Select item 1169323	NM_001854.4(COL11A1):c.4032+16A>G	COL11A1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1047474	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	COL11A1 (G1757R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1038628	NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	COL11A1 (G1243V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1029385	NM_001854.4(COL11A1):c.1684-1G>C	COL11A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 2	GLikely pathogenic
Select item 989250	NM_001854.4(COL11A1):c.1568C>G (p.Ala523Gly)	COL11A1 (A407G +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance
Select item 973212	NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	COL11A1 (E351* +2 more)	Single nucleotide variant (nonsense +2 more)	Stickler syndrome type 2 +2 more	GLikely pathogenic
Select item 973080	NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	COL11A1 (T94I)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 929473	NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	COL11A1 (G1000S +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +1 more	GLikely pathogenic
Select item 876983	NM_001854.4(COL11A1):c.-115C>T	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876927	NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)	COL11A1 (A160T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876781	NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)	COL11A1 (P873L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 876730	NM_001854.4(COL11A1):c.3384+13T>G	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 876729	NM_001854.4(COL11A1):c.3424G>A (p.Asp1142Asn)	COL11A1 (D1026N +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 876587	NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp)	COL11A1, LOC126805814 (E1702D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876586	NM_001854.4(COL11A1):c.5275-15T>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876585	NM_001854.4(COL11A1):c.5275-9A>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876500	NM_001854.4(COL11A1):c.*1301T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876499	NM_001854.4(COL11A1):c.*1322G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 876498	NM_001854.4(COL11A1):c.*1535A>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875940	NM_001854.4(COL11A1):c.511G>A (p.Val171Met)	COL11A1 (V171M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875938	NM_001854.4(COL11A1):c.652-13T>G	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 875887	NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875886	NM_001854.4(COL11A1):c.1341A>G (p.Ala447=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875591	NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu)	COL11A1 (P1801L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875590	NM_001854.4(COL11A1):c.*40C>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875530	NM_001854.4(COL11A1):c.*876G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 875529	NM_001854.4(COL11A1):c.*901T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 875067	NM_001854.4(COL11A1):c.174G>A (p.Thr58=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874960	NM_001854.4(COL11A1):c.1351-3T>A	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 874959	NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)	COL11A1 (D354H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874900	NM_001854.4(COL11A1):c.2044G>A (p.Gly682Ser)	COL11A1 (G682S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874753	NM_001854.4(COL11A1):c.4230G>A (p.Arg1410=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874648	NM_001854.4(COL11A1):c.*184A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874607	NM_001854.4(COL11A1):c.*1082G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874195	NM_001854.4(COL11A1):c.-248G>A	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874194	NM_001854.4(COL11A1):c.-222G>T	COL11A1	Single nucleotide variant (5 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 874080	NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala)	COL11A1 (T291A)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874022	NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)	COL11A1 (P490L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 874021	NM_001854.4(COL11A1):c.1845+11T>G	COL11A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 873962	NM_001854.4(COL11A1):c.2394+8T>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 873961	NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser)	COL11A1 (G817S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873960	NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)	COL11A1 (R818Q +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 873959	NM_001854.4(COL11A1):c.2506A>G (p.Lys836Glu)	COL11A1 (K836E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 873901	NM_001854.4(COL11A1):c.3343C>T (p.Pro1115Ser)	COL11A1 (P1076S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873741	NM_001854.4(COL11A1):c.5009G>A (p.Ser1670Asn)	COL11A1 (S1670N +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873740	NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 873664	NM_001854.4(COL11A1):c.*426A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873663	NM_001854.4(COL11A1):c.*486T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873662	NM_001854.4(COL11A1):c.*535A>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873606	NM_001854.4(COL11A1):c.*1230G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 804698	NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu)	COL11A1 (P1269L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 801530	NM_001854.4(COL11A1):c.3978+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 735693	NM_001854.4(COL11A1):c.924A>G (p.Glu308=)	COL11A1	Single nucleotide variant (synonymous variant +2 more)	Stickler syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 731001	NM_001854.4(COL11A1):c.456C>T (p.Pro152=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 2 +3 more	GConflicting classifications of pathogenicity
Select item 728988	NM_001854.4(COL11A1):c.489-4T>A	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 681382	NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	COL11A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 672677	NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 637032	NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln)	COL11A1 (K1143Q +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance

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