ClinVar for MedGen (Select 400917) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3593499	NM_080680.3(COL11A2):c.129_132dup (p.Asp45delinsProTer)	COL11A2	Microsatellite (nonsense +2 more)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3593497	NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)	COL11A2 (G406R +6 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3593495	NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)	COL11A2 (G796E +6 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3593494	NM_080680.3(COL11A2):c.2589dup (p.Ser864fs)	COL11A2 (S864fs +6 more)	Duplication (frameshift variant)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3593493	NM_080680.3(COL11A2):c.2734_2736+14del	COL11A2	Deletion (splice donor variant)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3593492	NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)	COL11A2 (G1142E +6 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3593490	NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)	COL11A2 (K1254* +6 more)	Single nucleotide variant (nonsense)	Fibrochondrogenesis 2 +4 more	GLikely pathogenic
Select item 3572968	NM_080680.3(COL11A2):c.1218dup (p.Ala407fs)	COL11A2 (A125fs +5 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 13	GLikely pathogenic
Select item 3377126	NM_080680.3(COL11A2):c.2114A>G (p.Gln705Arg)	COL11A2 (Q23R +6 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13	GUncertain significance
Select item 3376722	NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)	COL11A2 (L1322P +6 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13	GUncertain significance
Select item 3336497	NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)	COL11A2 (G1013R +6 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GConflicting classifications of pathogenicity
Select item 3233727	NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)	COL11A2 (G1039E +6 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +5 more	GConflicting classifications of pathogenicity
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 3017031	NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)	COL11A2 (R151* +5 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GPathogenic
Select item 2913625	NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)	COL11A2 (R918* +6 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2757004	NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)	COL11A2 (G1004fs +6 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GPathogenic/Likely pathogenic
Select item 2445627	NM_080680.3(COL11A2):c.3852+1G>T	COL11A2	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 13	GLikely pathogenic
Select item 2127651	NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)	COL11A2 (G653S +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 2116161	NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)	COL11A2 (G1276A +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1613061	NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 1597965	NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)	COL11A2 (G353W +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +2 more	GConflicting classifications of pathogenicity
Select item 1555440	NM_080680.3(COL11A2):c.2737-4C>T	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GLikely benign
Select item 1524943	NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)	COL11A2 (T469A +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1502435	NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)	COL11A2 (R913Q +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +1 more	GConflicting classifications of pathogenicity
Select item 1482614	NM_080680.3(COL11A2):c.29T>G (p.Leu10Arg)	COL11A2 (L10R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1449218	NM_080680.3(COL11A2):c.182G>A (p.Arg61Gln)	COL11A2 (R61Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GUncertain significance
Select item 1439011	NM_080680.3(COL11A2):c.283G>C (p.Gly95Arg)	COL11A2 (G95R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1405947	NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys)	COL11A2 (E681K +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1403624	NM_080680.3(COL11A2):c.362G>A (p.Arg121His)	COL11A2 (R121H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1398032	NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg)	COL11A2 (G727R +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1393041	NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr)	COL11A2 (P1011T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +1 more	GUncertain significance
Select item 1375471	NM_080680.3(COL11A2):c.1399G>A (p.Val467Met)	COL11A2 (V467M +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1302953	NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)	COL11A2 (A300V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1213287	NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser)	COL11A2 (G560S +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1206629	NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys)	COL11A2 (R93C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1200125	NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn)	COL11A2 (D325N)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1187127	NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn)	COL11A2 (D1152N +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1129450	NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp)	COL11A2 (E633D +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1034218	NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser)	COL11A2 (P418S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +1 more	GConflicting classifications of pathogenicity
Select item 982752	NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)	COL11A2 (D1180H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976074	NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys)	COL11A2 (E1119K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 812160	NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)	COL11A2 (P603S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +2 more	GUncertain significance
Select item 807387	NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)	COL11A2 (E589fs +2 more)	Microsatellite (frameshift variant)	Fibrochondrogenesis 2	GPathogenic
Select item 675092	NM_080680.3(COL11A2):c.877-34C>T	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674799	NM_080680.3(COL11A2):c.4339-49G>T	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 674781	NM_080680.3(COL11A2):c.3853-39G>A	COL11A2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 667220	NM_080680.3(COL11A2):c.3313-3C>T	COL11A2	Single nucleotide variant (intron variant)	not specified +6 more	GUncertain significance
Select item 637964	NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn)	COL11A2 (D33N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 508771	NM_080680.3(COL11A2):c.4230+13C>G	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +5 more	GLikely benign
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 444675	NM_080680.3(COL11A2):c.939+1G>A	COL11A2	Single nucleotide variant (intron variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 424385	NM_080680.3(COL11A2):c.798+67C>T	COL11A2 (P289S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423882	NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)	COL11A2 (R1020* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GPathogenic/Likely pathogenic
Select item 392807	NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser)	COL11A2 (G1048S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GConflicting classifications of pathogenicity
Select item 391897	NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro)	COL11A2 (T1097P +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 356412	NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)	COL11A2 (E2G)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GConflicting classifications of pathogenicity
Select item 356387	NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	COL11A2 (E1295K +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +6 more	GConflicting classifications of pathogenicity
Select item 288340	NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)	COL11A2 (R846W +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 262310	NM_080680.3(COL11A2):c.2682+26A>C	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +6 more	GBenign
Select item 262309	NM_080680.3(COL11A2):c.2484+22C>G	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +6 more	GBenign
Select item 226535	NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)	COL11A2	Single nucleotide variant (synonymous variant)	Fibrochondrogenesis 2 +7 more	GBenign
Select item 225318	NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)	COL11A2 (G230W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 198609	NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)	COL11A2 (G297S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 178927	NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	COL11A2 (A974V +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GConflicting classifications of pathogenicity
Select item 178812	NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)	COL11A2 (N1311S +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 178688	NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)	COL11A2 (R1569C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 178604	NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)	COL11A2 (R1600Q +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 162992	NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)	COL11A2 (R729Q +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign/Likely benign
Select item 162981	NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)	COL11A2 (P1347Q +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 46570	NM_080680.3(COL11A2):c.877-4T>A	COL11A2	Single nucleotide variant (intron variant)	not specified +8 more	GBenign
Select item 46569	NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys)	COL11A2 (E276K)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 2 +7 more	GBenign
Select item 46566	NM_080680.3(COL11A2):c.3313-11C>T	COL11A2	Single nucleotide variant (intron variant)	not provided +7 more	GBenign
Select item 46565	NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 46564	NM_080680.3(COL11A2):c.3150+15A>C	COL11A2	Single nucleotide variant (intron variant)	not provided +7 more	GBenign
Select item 46562	NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 46560	NM_080680.3(COL11A2):c.2628+3G>A	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +7 more	GBenign
Select item 46558	NM_080680.3(COL11A2):c.2136A>T (p.Gly712=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 46555	NM_080680.3(COL11A2):c.1360-7A>C	COL11A2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign
Select item 17129	NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	COL11A2 (P621T +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +7 more	GConflicting classifications of pathogenicity
Select item 17128	NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)	COL11A2 (R1224* +2 more)	Single nucleotide variant (nonsense)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +5 more	GPathogenic
Select item 17127	NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)	COL11A2 (R1272* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17125	NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)	COL11A2 (G701E +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13	GPathogenic
Select item 17124	NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)	COL11A2 (R1034C +2 more)	Single nucleotide variant (missense variant)	COL11A2-related disorder +2 more	GPathogenic/Likely pathogenic

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Items: 83