ClinVar for Gene (Select 1302) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336497	NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)	COL11A2 (G1013R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335961	NM_080680.3(COL11A2):c.1945G>A (p.Gly649Arg)	COL11A2 (G307R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268513	NM_080680.3(COL11A2):c.4097G>A (p.Gly1366Asp)	COL11A2 (G1024D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252808	NM_080680.3(COL11A2):c.4195G>A (p.Gly1399Ser)	COL11A2 (G1057S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252609	NM_080680.3(COL11A2):c.3852+6T>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252582	NM_080680.3(COL11A2):c.3852+1G>A	COL11A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3252536	NM_080680.3(COL11A2):c.652T>C (p.Tyr218His)	COL11A2 (Y218H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3246246	NC_000006.11:g.(?_33131455)_(33139617_?)dup	COL11A2	Duplication	not provided	GUncertain significance
Select item 3246245	NC_000006.11:g.(?_33141105)_(33141542_?)dup	COL11A2	Duplication	not provided	GUncertain significance
Select item 3246243	NC_000006.11:g.(?_33141105)_(33141723_?)dup	COL11A2	Duplication	not provided	GUncertain significance
Select item 3246242	NC_000006.11:g.(?_33096257)_(33142299_?)del	COL11A2	Deletion	not provided	GUncertain significance
Select item 3246241	NC_000006.11:g.(?_33131455)_(33144283_?)del	COL11A2	Deletion	not provided	GUncertain significance
Select item 3246013	NC_000006.11:g.(?_33131455)_(33388128_?)dup	B3GALT4, COL11A2 +17 more	Duplication	MHC class I deficiency	GUncertain significance
Select item 3233727	NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)	COL11A2 (G1039E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147166	NM_080680.3(COL11A2):c.4198C>G (p.Leu1400Val)	COL11A2 (L1293V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147162	NM_080680.3(COL11A2):c.1699C>T (p.Pro567Ser)	COL11A2 (P460S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068800	NM_080680.3(COL11A2):c.607-2A>T	COL11A2	Single nucleotide variant (splice acceptor variant)	COL11A2-related disorder	GLikely pathogenic
Select item 3068368	NM_080680.3(COL11A2):c.3890G>T (p.Gly1297Val)	COL11A2 (G1015V +6 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13	GUncertain significance
Select item 3064507	NM_080680.3(COL11A2):c.1471C>T (p.Pro491Ser)	COL11A2 (P149S +5 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant	GUncertain significance
Select item 3061690	NM_080680.3(COL11A2):c.201G>A (p.Gln67=)	COL11A2	Single nucleotide variant (synonymous variant +2 more)	COL11A2-related disorder	GLikely benign
Select item 3053088	NM_080680.3(COL11A2):c.3259-4C>G	COL11A2	Single nucleotide variant (intron variant)	COL11A2-related disorder	GLikely benign
Select item 3036974	NM_080680.3(COL11A2):c.1798C>T (p.Arg600Ter)	COL11A2 (R258* +5 more)	Single nucleotide variant (nonsense)	COL11A2-related disorder	GLikely pathogenic
Select item 3031757	NM_080680.3(COL11A2):c.5131C>T (p.Leu1711=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related disorder	GLikely benign
Select item 3030712	NM_080680.3(COL11A2):c.4599C>G (p.Ala1533=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related disorder	GLikely benign
Select item 3030529	NM_080680.3(COL11A2):c.3150+8T>G	COL11A2	Single nucleotide variant (intron variant)	COL11A2-related disorder	GLikely benign
Select item 3023598	NM_080680.3(COL11A2):c.4482+9G>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023097	NM_080680.3(COL11A2):c.977G>A (p.Arg326Lys)	COL11A2 (R326K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022699	NM_080680.3(COL11A2):c.1819-14C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022107	NM_080680.3(COL11A2):c.1284+11_1284+12del	COL11A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3022039	NM_080680.3(COL11A2):c.2171G>A (p.Gly724Asp)	COL11A2 (G617D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021515	NM_080680.3(COL11A2):c.2116-15T>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021355	NM_080680.3(COL11A2):c.2902G>A (p.Asp968Asn)	COL11A2 (D861N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018228	NM_080680.3(COL11A2):c.3480G>A (p.Leu1160=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018220	NM_080680.3(COL11A2):c.2737-19T>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017814	NM_080680.3(COL11A2):c.963C>T (p.Pro321=)	COL11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017569	NM_080680.3(COL11A2):c.4014G>T (p.Lys1338Asn)	COL11A2 (K1056N +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3017438	NM_080680.3(COL11A2):c.4177-15C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017186	NM_080680.3(COL11A2):c.606+20G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017031	NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)	COL11A2 (R151* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3016898	NM_080680.3(COL11A2):c.4364T>C (p.Ile1455Thr)	COL11A2 (I1173T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016538	NM_080680.3(COL11A2):c.4207G>A (p.Asp1403Asn)	COL11A2 (D1061N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016519	NM_080680.3(COL11A2):c.3729G>T (p.Gly1243=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015301	NM_080680.3(COL11A2):c.2587A>T (p.Thr863Ser)	COL11A2 (T777S +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3015270	NM_080680.3(COL11A2):c.3983C>A (p.Ser1328Tyr)	COL11A2 (S1328Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014969	NM_080680.3(COL11A2):c.4319C>T (p.Pro1440Leu)	COL11A2 (P1440L +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3014895	NM_080680.3(COL11A2):c.4598C>T (p.Ala1533Val)	COL11A2 (A1191V +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3014609	NM_080680.3(COL11A2):c.2989-5C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013509	NM_080680.3(COL11A2):c.2989-11C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013506	NM_080680.3(COL11A2):c.3907-15T>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012822	NM_080680.3(COL11A2):c.3345T>C (p.Pro1115=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012672	NM_080680.3(COL11A2):c.975C>T (p.Asp325=)	COL11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3012283	NM_080680.3(COL11A2):c.3460C>T (p.Pro1154Ser)	COL11A2 (P1154S +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3010537	NM_080680.3(COL11A2):c.4123-15C>G	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010470	NM_080680.3(COL11A2):c.1743T>A (p.Leu581=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010134	NM_080680.3(COL11A2):c.4014+7G>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009785	NM_080680.3(COL11A2):c.651C>G (p.Ala217=)	COL11A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3009309	NM_080680.3(COL11A2):c.4014+18C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008383	NM_080680.3(COL11A2):c.2530-4G>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008285	NM_080680.3(COL11A2):c.5071-9C>G	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007857	NM_080680.3(COL11A2):c.3756G>T (p.Gly1252=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007263	NM_080680.3(COL11A2):c.5105C>T (p.Thr1702Met)	COL11A2 (T1420M +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3005960	NM_080680.3(COL11A2):c.807G>A (p.Glu269=)	COL11A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3005639	NM_080680.3(COL11A2):c.1926G>A (p.Gln642=)	COL11A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003109	NM_080680.3(COL11A2):c.2268+10G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001982	NM_080680.3(COL11A2):c.3960+14_3960+15insT	COL11A2	Insertion (intron variant)	not provided	GUncertain significance
Select item 3001292	NM_080680.3(COL11A2):c.2989-16A>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001225	NM_080680.3(COL11A2):c.688G>C (p.Gly230Arg)	COL11A2 (G230R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3000613	NM_080680.3(COL11A2):c.1171T>C (p.Leu391=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000533	NM_080680.3(COL11A2):c.3804T>C (p.Pro1268=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000298	NM_080680.3(COL11A2):c.3475-14G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999974	NM_080680.3(COL11A2):c.45T>G (p.Pro15=)	COL11A2	Single nucleotide variant (synonymous variant +1 more)	COL11A2-related disorder +1 more	GLikely benign
Select item 2999919	NM_080680.3(COL11A2):c.3486C>T (p.Gly1162=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999584	NM_080680.3(COL11A2):c.2737-17CT[2]	COL11A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2999386	NM_080680.3(COL11A2):c.3276C>G (p.Pro1092=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997145	NM_080680.3(COL11A2):c.1794G>A (p.Gly598=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996959	NM_080680.3(COL11A2):c.1842C>T (p.Pro614=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995388	NM_080680.3(COL11A2):c.3501G>A (p.Lys1167=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995332	NM_080680.3(COL11A2):c.1536G>A (p.Glu512=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994573	NM_080680.3(COL11A2):c.3583-8T>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993690	NM_080680.3(COL11A2):c.2070+9G>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993551	NM_080680.3(COL11A2):c.1296C>T (p.Gly432=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991625	NM_080680.3(COL11A2):c.1666-6T>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991144	NM_080680.3(COL11A2):c.4015-17C>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990868	NM_080680.3(COL11A2):c.3312+13G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990751	NM_080680.3(COL11A2):c.2795C>G (p.Ala932Gly)	COL11A2 (A250G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990094	NM_080680.3(COL11A2):c.795C>T (p.Ser265=)	COL11A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2988006	NM_080680.3(COL11A2):c.2159G>C (p.Arg720Pro)	COL11A2 (R634P +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2987600	NM_080680.3(COL11A2):c.1919G>T (p.Gly640Val)	COL11A2 (G358V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987234	NM_080680.3(COL11A2):c.4864-12C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987165	NM_080680.3(COL11A2):c.2061C>T (p.Asp687=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987016	NM_080680.3(COL11A2):c.2709G>C (p.Pro903=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986907	NM_080680.3(COL11A2):c.4542C>T (p.Arg1514=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986356	NM_080680.3(COL11A2):c.2827G>A (p.Gly943Ser)	COL11A2 (G261S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986192	NM_080680.3(COL11A2):c.2694G>A (p.Gly898=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986162	NM_080680.3(COL11A2):c.1271A>G (p.Asp424Gly)	COL11A2 (D364G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985944	NM_080680.3(COL11A2):c.1392C>T (p.Gly464=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984599	NM_080680.3(COL11A2):c.1972-13T>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984209	NM_080680.3(COL11A2):c.4939G>A (p.Ala1647Thr)	COL11A2 (A1305T +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2983523	NM_080680.3(COL11A2):c.1867C>A (p.Pro623Thr)	COL11A2 (P281T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980857	NM_080680.3(COL11A2):c.851C>T (p.Thr284Ile)	COL11A2 (T2I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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