ClinVar for Gene (Select 1301) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370040	NM_001854.4(COL11A1):c.2204C>T (p.Pro735Leu)	COL11A1 (P619L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369562	NM_001854.4(COL11A1):c.3155C>T (p.Pro1052Leu)	COL11A1 (P1013L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368936	NM_001854.4(COL11A1):c.4807C>T (p.Pro1603Ser)	COL11A1 (P1487S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368924	NM_001854.4(COL11A1):c.4295G>C (p.Gly1432Ala)	COL11A1 (G1316A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368041	NM_001854.4(COL11A1):c.2029C>A (p.Pro677Thr)	COL11A1 (P561T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368008	NM_001854.4(COL11A1):c.4385G>A (p.Gly1462Asp)	COL11A1 (G1346D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3367683	NM_001854.4(COL11A1):c.4303-3del	COL11A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3367091	NM_001854.4(COL11A1):c.1630-3T>C	COL11A1	Single nucleotide variant (intron variant)	Stickler syndrome type 2	GUncertain significance
Select item 3366896	NM_001854.4(COL11A1):c.3277-1G>C	COL11A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 2	GLikely pathogenic
Select item 3366895	NM_001854.4(COL11A1):c.2143G>A (p.Gly715Arg)	COL11A1 (G599R +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GPathogenic
Select item 3366894	NM_001854.4(COL11A1):c.4537G>T (p.Gly1513Cys)	COL11A1 (G1397C +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GPathogenic
Select item 3366893	NM_001854.4(COL11A1):c.4459_4464+1del	COL11A1	Deletion (splice donor variant)	Stickler syndrome type 2	GPathogenic
Select item 3366883	NM_001854.4(COL11A1):c.4384G>T (p.Gly1462Cys)	COL11A1 (G1346C +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 3366882	NM_001854.4(COL11A1):c.3762+1G>A	COL11A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 2	GLikely pathogenic
Select item 3366881	NM_001854.4(COL11A1):c.4547G>A (p.Gly1516Asp)	COL11A1 (G1400D +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 3366880	NM_001854.4(COL11A1):c.4353_4356+4del	COL11A1	Deletion (splice donor variant)	Stickler syndrome type 2	GPathogenic
Select item 3366284	NM_001854.4(COL11A1):c.127A>C (p.Lys43Gln)	COL11A1 (K43Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366165	NM_001854.4(COL11A1):c.1756G>A (p.Gly586Arg)	COL11A1 (G470R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364135	NM_001854.4(COL11A1):c.4232G>T (p.Gly1411Val)	COL11A1 (G1295V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362911	NM_001854.4(COL11A1):c.4368_4391del (p.Leu1457_Pro1464del)	COL11A1	Deletion (inframe_deletion +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 3362775	NM_001854.4(COL11A1):c.4360C>T (p.His1454Tyr)	COL11A1 (H1338Y +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GUncertain significance
Select item 3362378	NM_001854.4(COL11A1):c.3245C>T (p.Pro1082Leu)	COL11A1 (P1043L +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GLikely pathogenic
Select item 3361950	NM_001854.4(COL11A1):c.3242G>A (p.Gly1081Asp)	COL11A1 (G1042D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361825	NM_001854.4(COL11A1):c.1630-2A>T	COL11A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3361804	NM_001854.4(COL11A1):c.5156C>G (p.Ala1719Gly)	COL11A1 (A1603G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361613	NM_001854.4(COL11A1):c.3685C>T (p.Pro1229Ser)	COL11A1 (P1113S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361455	NM_001854.4(COL11A1):c.3346G>C (p.Ala1116Pro)	COL11A1 (A1000P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359819	NM_001854.4(COL11A1):c.4938G>C (p.Glu1646Asp)	COL11A1 (E1530D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3355596	NM_001854.4(COL11A1):c.3448G>A (p.Gly1150Ser)	COL11A1 (G1034S +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 3352786	NM_001854.4(COL11A1):c.898-272A>G	COL11A1 (K283R)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
Select item 3351374	NM_001854.4(COL11A1):c.2911C>A (p.Pro971Thr)	COL11A1 (P855T +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder	GUncertain significance
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 3348627	NM_001854.4(COL11A1):c.1737+6G>C	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 3347290	NM_001854.4(COL11A1):c.3756_3762+1del	COL11A1	Deletion (splice donor variant)	COL11A1-related disorder	GLikely pathogenic
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 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 3345990	NM_001854.4(COL11A1):c.991-26C>G	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
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 3345190	NM_001854.4(COL11A1):c.2607_2608dup (p.Arg870fs)	COL11A1 (R754fs +3 more)	Duplication (frameshift variant +1 more)	COL11A1-related disorder	GPathogenic
Select item 3345070	NM_001854.4(COL11A1):c.3385-1G>T	COL11A1	Single nucleotide variant (splice acceptor variant)	COL11A1-related disorder	GLikely pathogenic
Select item 3344875	NM_001854.4(COL11A1):c.781-63C>T	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
Select item 3342843	NM_001854.4(COL11A1):c.898-228A>T	COL11A1 (K298*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3342481	NM_001854.4(COL11A1):c.109G>A (p.Ala37Thr)	COL11A1 (A37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342348	NM_001854.4(COL11A1):c.3787C>T (p.Pro1263Ser)	COL11A1 (P1147S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342110	NM_001854.4(COL11A1):c.3904G>T (p.Asp1302Tyr)	COL11A1 (D1186Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341059	NM_001854.4(COL11A1):c.356A>G (p.Tyr119Cys)	COL11A1 (Y119C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3340226	NM_001854.4(COL11A1):c.652-2del	COL11A1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3340194	NM_001854.4(COL11A1):c.1678C>A (p.Pro560Thr)	COL11A1 (P444T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337926	NM_001854.4(COL11A1):c.1386del (p.Gly463fs)	COL11A1 (G347fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3336601	NM_001854.4(COL11A1):c.4356G>A (p.Lys1452=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37	GLikely pathogenic
Select item 3336377	NM_001854.4(COL11A1):c.2557-17T>C	COL11A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3268512	NM_001854.4(COL11A1):c.2018G>C (p.Gly673Ala)	COL11A1 (G557A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268511	NM_001854.4(COL11A1):c.3889G>T (p.Gly1297Trp)	COL11A1 (G1181W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268510	NM_001854.4(COL11A1):c.3633A>C (p.Glu1211Asp)	COL11A1 (E1095D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268509	NM_001854.4(COL11A1):c.1900G>C (p.Gly634Arg)	COL11A1 (G518R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268508	NM_001854.4(COL11A1):c.810C>G (p.Asp270Glu)	COL11A1 (D270E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3253324	NM_001854.4(COL11A1):c.4449A>T (p.Gly1483=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3253300	NM_001854.4(COL11A1):c.704A>C (p.Tyr235Ser)	COL11A1 (Y235S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253277	NM_001854.4(COL11A1):c.4518+6T>C	COL11A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3253248	NM_001854.4(COL11A1):c.4384G>C (p.Gly1462Arg)	COL11A1 (G1346R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252952	NM_001854.4(COL11A1):c.2705C>T (p.Pro902Leu)	COL11A1 (P786L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252936	NM_001854.4(COL11A1):c.4237C>T (p.Pro1413Ser)	COL11A1 (P1297S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252411	NM_001854.4(COL11A1):c.5326G>C (p.Asp1776His)	COL11A1 (D1660H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3247932	NC_000001.10:g.(?_103444631)_(103448784_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247931	NC_000001.10:g.(?_103363661)_(103364570_?)dup	COL11A1	Duplication	not provided	GUncertain significance
Select item 3247930	NC_000001.10:g.(?_103399985)_(104094402_?)dup	COL11A1, RNPC3	Duplication	not provided	GUncertain significance
Select item 3247928	NC_000001.10:g.(?_103444244)_(103573734_?)dup	COL11A1	Duplication	not provided	GUncertain significance
Select item 3247927	NC_000001.10:g.(?_103343575)_(103573734_?)dup	COL11A1	Duplication	not provided	GUncertain significance
Select item 3247926	NC_000001.10:g.(?_103377695)_(103379266_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247925	NC_000001.10:g.(?_103385847)_(103496820_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247924	NC_000001.10:g.(?_103477949)_(103496820_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247923	NC_000001.10:g.(?_103484354)_(103496820_?)del	COL11A1	Deletion	not provided	GUncertain significance
Select item 3247922	NC_000001.10:g.(?_103343575)_(103388965_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247921	NC_000001.10:g.(?_103444244)_(103444489_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 3247920	NC_000001.10:g.(?_103467461)_(103468844_?)del	COL11A1	Deletion	not provided	GUncertain significance
Select item 3247919	NC_000001.10:g.(?_103399985)_(104094402_?)del	COL11A1, RNPC3	Deletion	not provided	GPathogenic
Select item 3247917	NC_000001.10:g.(?_103480047)_(103480170_?)del	COL11A1	Deletion	not provided	GUncertain significance
Select item 3247916	NC_000001.10:g.(?_103481204)_(103481318_?)del	COL11A1	Deletion	not provided	GUncertain significance
Select item 3247915	NC_000001.10:g.(?_103343575)_(104094402_?)del	COL11A1, RNPC3	Deletion	not provided	GPathogenic
Select item 3236626	NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)	COL11A1 (R535* +3 more)	Single nucleotide variant (nonsense +1 more)	Marshall syndrome +1 more	GLikely pathogenic
Select item 3236191	NM_001854.4(COL11A1):c.298del (p.Ser100fs)	COL11A1 (S100fs)	Deletion (frameshift variant +1 more)	Marshall syndrome	GLikely pathogenic
Select item 3235930	NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)	COL11A1 (G1055R +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome +1 more	GUncertain significance
Select item 3234691	NM_001854.4(COL11A1):c.4967A>T (p.Glu1656Val)	COL11A1 (E1540V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3233956	NM_001854.4(COL11A1):c.1406G>T (p.Gly469Val)	COL11A1 (G353V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3233912	NM_001854.4(COL11A1):c.287C>T (p.Pro96Leu)	COL11A1 (P96L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147160	NM_001854.4(COL11A1):c.449A>T (p.Asp150Val)	COL11A1 (D150V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147159	NM_001854.4(COL11A1):c.3893C>G (p.Pro1298Arg)	COL11A1 (P1298R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147157	NM_001854.4(COL11A1):c.2546A>G (p.Gln849Arg)	COL11A1 (Q733R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068978	NM_001854.4(COL11A1):c.4249-6C>A	COL11A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3068977	NM_001854.4(COL11A1):c.42C>A (p.Leu14=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3068976	NM_001854.4(COL11A1):c.897+247T>G	COL11A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3062163	NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)	COL11A1 (M376* +3 more)	Inversion (nonsense +1 more)	Hearing loss, autosomal dominant 37	GLikely pathogenic
Select item 3061585	NM_001854.4(COL11A1):c.991-32G>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign
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 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 3055905	NM_001854.4(COL11A1):c.652-14T>G	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related disorder	GLikely benign

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