ClinVar for MedGen (Select 1790497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585126	NM_080680.3(COL11A2):c.3509C>G (p.Thr1170Arg)	COL11A2 (T1084R +6 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive	GUncertain significance
Select item 2572424	NM_080680.3(COL11A2):c.1408C>T (p.Gln470Ter)	COL11A2 (Q363* +2 more)	Single nucleotide variant (nonsense)	Otospondylomegaepiphyseal dysplasia, autosomal recessive	GLikely pathogenic
Select item 2441818	NM_080680.3(COL11A2):c.2482C>T (p.Arg828Trp)	COL11A2 (R721W +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 2185359	NM_080680.3(COL11A2):c.5102G>A (p.Arg1701Gln)	COL11A2 (R1615Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1975014	NM_080680.3(COL11A2):c.1672C>T (p.Arg558Ter)	COL11A2 (R558* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1879657	NM_080680.3(COL11A2):c.4G>A (p.Glu2Lys)	COL11A2 (E2K)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +1 more	GUncertain significance
Select item 1804120	NM_080680.3(COL11A2):c.2086del (p.Glu696fs)	COL11A2 (E589fs +2 more)	Deletion (frameshift variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive	GPathogenic
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 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 1405947	NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys)	COL11A2 (E681K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GUncertain significance
Select item 1403624	NM_080680.3(COL11A2):c.362G>A (p.Arg121His)	COL11A2 (R121H)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GUncertain significance
Select item 1334114	NM_080680.3(COL11A2):c.3080G>A (p.Gly1027Glu)	COL11A2 (G1027E +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive	GLikely pathogenic
Select item 1302953	NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val)	COL11A2 (A300V +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GUncertain significance
Select item 1206629	NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys)	COL11A2 (R93C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GUncertain significance
Select item 1187127	NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn)	COL11A2 (D1152N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GUncertain significance
Select item 1031066	NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)	COL11A2 (R1126C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1031065	NM_080680.3(COL11A2):c.2682+5G>A	COL11A2	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 907893	NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)	COL11A2 (R1150C +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 907531	NM_080680.3(COL11A2):c.-82C>G	COL11A2	Single nucleotide variant (5 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 907291	NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)	COL11A2 (H486N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 906906	NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His)	COL11A2 (D1153H +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 906835	NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu)	COL11A2 (R1213L +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GUncertain significance
Select item 906714	NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)	COL11A2 (R1462H +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 906713	NM_080680.3(COL11A2):c.4751-12C>G	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 906636	NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 906520	NM_080680.3(COL11A2):c.-79T>C	COL11A2	Single nucleotide variant (5 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 906471	NM_080680.3(COL11A2):c.622C>T (p.Leu208=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 906412	NM_080680.3(COL11A2):c.920T>A (p.Leu307His)	COL11A2 (L281H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 906099	NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu)	COL11A2 (G803E +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 906098	NM_080680.3(COL11A2):c.2676A>T (p.Gly892=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 905655	NM_080680.3(COL11A2):c.2431-4C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 905654	NM_080680.3(COL11A2):c.2477G>C (p.Gly826Ala)	COL11A2 (G740A +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 905304	NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser)	COL11A2 (N1179S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 905130	NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser)	COL11A2 (G1593S +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GUncertain significance
Select item 904983	NM_080680.3(COL11A2):c.*393A>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904929	NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln)	COL11A2 (R64Q)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 904928	NM_080680.3(COL11A2):c.*788A>C	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904927	NM_080680.3(COL11A2):c.*819C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904728	NM_080680.3(COL11A2):c.3150+7G>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 904520	NM_080680.3(COL11A2):c.3907-5C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 904454	NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu)	COL11A2 (K1303E +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 904453	NM_080680.3(COL11A2):c.4231-4C>G	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 904203	NM_080680.3(COL11A2):c.*429G>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904202	NM_080680.3(COL11A2):c.*485G>C	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904148	NM_080680.3(COL11A2):c.222G>A (p.Gln74=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 904086	NM_080680.3(COL11A2):c.799-3C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904020	NM_080680.3(COL11A2):c.1231G>T (p.Gly411Cys)	COL11A2 (G304C +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 903951	NM_080680.3(COL11A2):c.1697T>G (p.Leu566Arg)	COL11A2 (L459R +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 903890	NM_080680.3(COL11A2):c.1869C>G (p.Pro623=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 903738	NM_080680.3(COL11A2):c.2530-4G>A	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 809916	NM_080680.3(COL11A2):c.1698C>T (p.Leu566=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 807387	NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)	COL11A2 (E589fs +2 more)	Microsatellite (frameshift variant)	Fibrochondrogenesis 2	GPathogenic
Select item 802200	NM_080680.3(COL11A2):c.67dup (p.Ala23fs)	COL11A2 (A23fs)	Duplication (frameshift variant)	See cases +1 more	GPathogenic
Select item 802199	NM_080680.3(COL11A2):c.1292del (p.Pro431fs)	COL11A2 (P324fs +2 more)	Deletion (frameshift variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive	GPathogenic
Select item 681633	NM_080680.3(COL11A2):c.579C>T (p.Ala193=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Autosomal dominant nonsyndromic hearing loss 13 +5 more	GBenign
Select item 674781	NM_080680.3(COL11A2):c.3853-39G>A	COL11A2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GBenign
Select item 561277	NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)	COL11A2 (V752M +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GConflicting classifications of pathogenicity
Select item 560983	NM_001844.5(COL2A1):c.1420-7_1430del	COL2A1	Deletion (splice acceptor variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive	GPathogenic
Select item 547218	NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 515825	NM_080680.3(COL11A2):c.-21C>G	COL11A2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 513695	NM_080680.3(COL11A2):c.2709G>A (p.Pro903=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 508771	NM_080680.3(COL11A2):c.4230+13C>G	COL11A2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 53 +5 more	GLikely benign
Select item 505075	NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)	COL11A2 (R1695Q +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GConflicting classifications of pathogenicity
Select item 504742	NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)	COL11A2	Single nucleotide variant (synonymous variant)	Fibrochondrogenesis 2 +4 more	GConflicting classifications of pathogenicity
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Short long bone +8 more	GPathogenic/Likely pathogenic
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)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GPathogenic/Likely pathogenic
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 369540	NM_080680.2(COL11A2):c.-241G>A	COL11A2	Single nucleotide variant (genic upstream transcript variant)	Fibrochondrogenesis 1 +5 more	GLikely benign
Select item 356416	NM_080680.3(COL11A2):c.-226C>T	COL11A2	Single nucleotide variant (5 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GUncertain significance
Select item 356415	NM_080680.3(COL11A2):c.-200G>A	COL11A2	Single nucleotide variant (5 prime UTR variant)	Stickler Syndrome, Dominant +4 more	GBenign/Likely benign
Select item 356414	NM_080680.3(COL11A2):c.-174C>A	COL11A2	Single nucleotide variant (5 prime UTR variant)	Stickler Syndrome, Dominant +4 more	GBenign
Select item 356413	NM_080680.3(COL11A2):c.-92A>G	COL11A2	Single nucleotide variant (5 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GUncertain significance
Select item 356412	NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)	COL11A2 (E2G)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356411	NM_080680.3(COL11A2):c.453T>C (p.Arg151=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356410	NM_080680.3(COL11A2):c.830C>A (p.Pro277His)	COL11A2 (P277H)	Single nucleotide variant (missense variant +1 more)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GUncertain significance
Select item 356409	NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp)	COL11A2 (E313D +1 more)	Single nucleotide variant (missense variant +1 more)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GUncertain significance
Select item 356408	NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu)	COL11A2 (P393L +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GUncertain significance
Select item 356407	NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)	COL11A2 (P403L +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 356406	NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)	COL11A2 (G461C +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356405	NM_080680.3(COL11A2):c.1818+15G>A	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356404	NM_080680.3(COL11A2):c.1873-14A>G	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +4 more	GBenign/Likely benign
Select item 356403	NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala)	COL11A2 (G685A +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GUncertain significance
Select item 356402	NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)	COL11A2 (I728F +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GConflicting classifications of pathogenicity
Select item 356401	NM_080680.3(COL11A2):c.2215-11A>G	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 356400	NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 356399	NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)	COL11A2 (R806C +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356398	NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)	COL11A2 (G895A +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356397	NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)	COL11A2 (V912A +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356396	NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)	COL11A2 (P950S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 356395	NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)	COL11A2 (P1031L +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356394	NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 356393	NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)	COL11A2 (P1110S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 356392	NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr)	COL11A2 (A1124T +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GUncertain significance
Select item 356391	NM_080680.3(COL11A2):c.3583-5T>C	COL11A2	Single nucleotide variant (intron variant)	Fibrochondrogenesis 2 +6 more	GBenign/Likely benign
Select item 356390	NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)	COL11A2	Single nucleotide variant (synonymous variant)	Fibrochondrogenesis 2 +5 more	GConflicting classifications of pathogenicity
Select item 356389	NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)	COL11A2 (S1242L +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +6 more	GConflicting classifications of pathogenicity

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