1302[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 1289131	NC_000006.12:g.33162653G>A	COL11A2	Single nucleotide variant	not provided	GBenign
Select item 356372	NM_080680.3(COL11A2):c.*925G>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GLikely benign
Select item 356373	NM_080680.3(COL11A2):c.*822C>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GConflicting classifications of pathogenicity
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 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 356374	NM_080680.3(COL11A2):c.*706G>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 356375	NM_080680.3(COL11A2):c.*544C>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GUncertain significance
Select item 356376	NM_080680.3(COL11A2):c.*536C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 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 356377	NM_080680.3(COL11A2):c.*439C>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GUncertain significance
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 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 356378	NM_080680.3(COL11A2):c.*248C>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GUncertain significance
Select item 356379	NM_080680.3(COL11A2):c.*128C>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GLikely benign
Select item 356380	NM_080680.3(COL11A2):c.*119G>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GLikely benign
Select item 660703	NC_000006.11:g.(?_33131435)_(33419703_?)dup	B3GALT4, COL11A2 +26 more	Duplication	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 1342755	NM_080680.3(COL11A2):c.*7CT[1]	COL11A2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 178320	NM_080680.3(COL11A2):c.*4C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 2019158	NM_080680.3(COL11A2):c.5210A>G (p.Ter1737Trp)	COL11A2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2710871	NM_080680.3(COL11A2):c.5204T>C (p.Met1735Thr)	COL11A2 (M1453T +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1374688	NM_080680.3(COL11A2):c.5203A>T (p.Met1735Leu)	COL11A2 (M1628L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2682493	NM_080680.3(COL11A2):c.5195T>C (p.Val1732Ala)	COL11A2 (V1050A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074805	NM_080680.3(COL11A2):c.5194G>C (p.Val1732Leu)	COL11A2 (V1625L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816296	NM_080680.3(COL11A2):c.5191C>T (p.Pro1731Ser)	COL11A2 (P1449S +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2910873	NM_080680.3(COL11A2):c.5190G>C (p.Gly1730=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917338	NM_080680.3(COL11A2):c.5185C>T (p.Leu1729=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156698	NM_080680.3(COL11A2):c.5179G>T (p.Val1727Leu)	COL11A2 (V1620L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488474	NM_080680.3(COL11A2):c.5179G>A (p.Val1727Met)	COL11A2 (V1641M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138874	NM_080680.3(COL11A2):c.5175A>T (p.Gly1725=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397890	NM_080680.3(COL11A2):c.5171G>A (p.Arg1724Gln)	COL11A2 (R1724Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 439495	NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)	COL11A2 (R1724W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1939697	NM_080680.3(COL11A2):c.5168G>A (p.Arg1723Lys)	COL11A2 (R1637K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 517576	NM_080680.3(COL11A2):c.5166G>A (p.Pro1722=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 46568	NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	COL11A2 (P1722L +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 2019455	NM_080680.3(COL11A2):c.5160C>T (p.Ala1720=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 391882	NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition +2 more	GBenign/Likely benign
Select item 1184551	NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val)	COL11A2 (L1611V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449808	NM_080680.3(COL11A2):c.5152C>A (p.Leu1718Met)	COL11A2 (L1718M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517365	NM_080680.3(COL11A2):c.5150A>T (p.Asp1717Val)	COL11A2 (D1717V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2724957	NM_080680.3(COL11A2):c.5145C>T (p.Phe1715=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031757	NM_080680.3(COL11A2):c.5131C>T (p.Leu1711=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition	GLikely benign
Select item 1392725	NM_080680.3(COL11A2):c.5125C>T (p.Pro1709Ser)	COL11A2 (P1623S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667219	NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)	COL11A2 (Q1621H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1495532	NM_080680.3(COL11A2):c.5116G>A (p.Glu1706Lys)	COL11A2 (E1620K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217667	NM_080680.3(COL11A2):c.5113C>T (p.Leu1705=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2142548	NM_080680.3(COL11A2):c.5111T>G (p.Val1704Gly)	COL11A2 (V1597G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291006	NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition +2 more	GConflicting classifications of pathogenicity
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 2185359	NM_080680.3(COL11A2):c.5102G>A (p.Arg1701Gln)	COL11A2 (R1615Q +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2832479	NM_080680.3(COL11A2):c.5088G>C (p.Thr1696=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504742	NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1300806	NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)	COL11A2 (T1589M +2 more)	Single nucleotide variant (missense variant)	COL11A2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 505075	NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)	COL11A2 (R1695Q +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2109254	NM_080680.3(COL11A2):c.5083C>G (p.Arg1695Gly)	COL11A2 (R1588G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391128	NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp)	COL11A2 (R1695W +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1614710	NM_080680.3(COL11A2):c.5073A>C (p.Thr1691=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894491	NM_080680.3(COL11A2):c.5071-1G>A	COL11A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 226539	NM_080680.3(COL11A2):c.5071-5T>G	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 2072538	NM_080680.3(COL11A2):c.5071-7C>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262312	NM_080680.3(COL11A2):c.5071-7C>G	COL11A2	Single nucleotide variant (intron variant)	COL11A2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 3008285	NM_080680.3(COL11A2):c.5071-9C>G	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824464	NM_080680.3(COL11A2):c.5071-10C>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512353	NM_080680.3(COL11A2):c.5071-10C>T	COL11A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2115379	NM_080680.3(COL11A2):c.5071-14G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640956	NM_080680.3(COL11A2):c.5071-18_5071-15del	COL11A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2123198	NM_080680.3(COL11A2):c.5071-16T>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766083	NM_080680.3(COL11A2):c.5071-17C>G	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286702	NM_080680.3(COL11A2):c.5071-139T>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222488	NM_080680.3(COL11A2):c.5070+151G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191522	NM_080680.3(COL11A2):c.5070+30T>G	COL11A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548260	NM_080680.3(COL11A2):c.5070+18dup	COL11A2	Duplication (intron variant)	not provided	GLikely benign
Select item 2138205	NM_080680.3(COL11A2):c.5070+6A>T	COL11A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2186132	NM_080680.3(COL11A2):c.5070+5G>A	COL11A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1402793	NM_080680.3(COL11A2):c.5070+5G>C	COL11A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1646874	NM_080680.3(COL11A2):c.5061T>C (p.Asp1687=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849579	NM_080680.3(COL11A2):c.5058A>G (p.Arg1686=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093418	NM_080680.3(COL11A2):c.5032_5044del (p.Thr1678fs)	COL11A2 (T1571fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1942060	NM_080680.3(COL11A2):c.5044G>A (p.Val1682Ile)	COL11A2 (V1575I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1658724	NM_080680.3(COL11A2):c.5043T>C (p.Tyr1681=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746638	NM_080680.3(COL11A2):c.5035A>G (p.Ser1679Gly)	COL11A2 (S1337G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700461	NM_080680.3(COL11A2):c.5031G>T (p.Glu1677Asp)	COL11A2 (E1570D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211399	NM_080680.3(COL11A2):c.5028G>A (p.Pro1676=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition +1 more	GBenign/Likely benign
Select item 1310528	NM_080680.3(COL11A2):c.5027C>A (p.Pro1676Gln)	COL11A2 (P1569Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010356	NM_080680.3(COL11A2):c.5027C>T (p.Pro1676Leu)	COL11A2 (P1569L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2730673	NM_080680.3(COL11A2):c.5024G>A (p.Ser1675Asn)	COL11A2 (S1393N +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1305904	NM_080680.3(COL11A2):c.5014G>A (p.Asp1672Asn)	COL11A2 (D1565N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415515	NM_080680.3(COL11A2):c.5011G>A (p.Glu1671Lys)	COL11A2 (E1564K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030988	NM_080680.3(COL11A2):c.5004G>A (p.Gly1668=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971173	NM_080680.3(COL11A2):c.5001T>G (p.Arg1667=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178321	NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	COL11A2 (R1667H +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 1462244	NM_080680.3(COL11A2):c.4999C>A (p.Arg1667Ser)	COL11A2 (R1560S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1437721	NM_080680.3(COL11A2):c.4999C>T (p.Arg1667Cys)	COL11A2 (R1581C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2061220	NM_080680.3(COL11A2):c.4994G>A (p.Arg1665Lys)	COL11A2 (R1665K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003129	NM_080680.3(COL11A2):c.4991T>G (p.Leu1664Arg)	COL11A2 (L1664R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840716	NM_080680.3(COL11A2):c.4990C>T (p.Leu1664=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371091	NM_080680.3(COL11A2):c.4984G>A (p.Gly1662Ser)	COL11A2 (G1555S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906636	NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1593826	NM_080680.3(COL11A2):c.4980T>G (p.Arg1660=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416490	NM_080680.3(COL11A2):c.4979G>A (p.Arg1660His)	COL11A2 (R1553H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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