"GeneDx"[submitter] AND "COL11A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 876499	NM_001854.4(COL11A1):c.*1322G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 291476	NM_001854.4(COL11A1):c.*1203G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 291477	NM_001854.4(COL11A1):c.*1183A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 291478	NM_001854.4(COL11A1):c.*1105C>T	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1321539	NM_001854.4(COL11A1):c.*704T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 291484	NM_001854.4(COL11A1):c.*632G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 291488	NM_001854.4(COL11A1):c.*301A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 291490	NM_001854.4(COL11A1):c.*105C>T	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +2 more	GBenign
Select item 291491	NM_001854.4(COL11A1):c.*17A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1196007	NM_001854.4(COL11A1):c.*9C>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 1401053	NM_001854.4(COL11A1):c.5414T>A (p.Leu1805His)	COL11A1 (L1817H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2444611	NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu)	COL11A1 (F1688L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878855	NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys)	COL11A1 (G1684C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1047474	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg)	COL11A1 (G1757R +3 more)	Single nucleotide variant (missense variant +1 more)	Intervertebral disc disorder +5 more	GUncertain significance
Select item 511574	NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1939269	NM_001854.4(COL11A1):c.5329C>G (p.Gln1777Glu)	COL11A1 (Q1738E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 514187	NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Fibrochondrogenesis 1 +2 more	GBenign/Likely benign
Select item 1306226	NM_001854.4(COL11A1):c.5294del (p.Lys1765fs)	COL11A1 (K1649fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2505905	NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp)	COL11A1 (E1648D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1189163	NM_001854.4(COL11A1):c.5275-178A>C	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202981	NM_001854.4(COL11A1):c.5275-295A>T	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263899	NM_001854.4(COL11A1):c.5274+261A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229009	NM_001854.4(COL11A1):c.5274+97C>T	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303460	NM_001854.4(COL11A1):c.5274G>A (p.Ala1758=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 284750	NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)	COL11A1, LOC126805814 (A1770V +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GUncertain significance
Select item 198360	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	COL11A1, LOC126805814 (R1745H +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1720209	NM_001854.4(COL11A1):c.5173T>A (p.Ser1725Thr)	COL11A1, LOC126805814 (S1609T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449987	NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)	COL11A1, LOC126805814 (H1715L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 720991	NM_001854.4(COL11A1):c.5136C>T (p.Tyr1712=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1001761	NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)	COL11A1, LOC126805814 (T1595I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1702542	NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln)	COL11A1, LOC126805814 (R1591Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1369352	NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp)	COL11A1, LOC126805814 (R1719W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1311019	NM_001854.4(COL11A1):c.5099A>C (p.Lys1700Thr)	COL11A1, LOC126805814 (K1584T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311737	NM_001854.4(COL11A1):c.5095C>G (p.Leu1699Val)	COL11A1, LOC126805814 (L1583V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 737368	NM_001854.4(COL11A1):c.5041-4C>T	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197874	NM_001854.4(COL11A1):c.5041-8A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681209	NM_001854.4(COL11A1):c.5041-272G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203041	NM_001854.4(COL11A1):c.5040+282T>C	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303430	NM_001854.4(COL11A1):c.4991C>A (p.Pro1664Gln)	COL11A1 (P1548Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1292480	NM_001854.4(COL11A1):c.4972-27A>G	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242196	NM_001854.4(COL11A1):c.4972-95T>C	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282298	NM_001854.4(COL11A1):c.4972-194A>G	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195751	NM_001854.4(COL11A1):c.4972-263G>T	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681208	NM_001854.4(COL11A1):c.4971+295T>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240987	NM_001854.4(COL11A1):c.4971+216C>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175556	NM_001854.4(COL11A1):c.4971+102T>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 291493	NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1328853	NM_001854.4(COL11A1):c.4961A>C (p.Lys1654Thr)	COL11A1 (K1538T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 258472	NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2579512	NM_001854.4(COL11A1):c.4903T>C (p.Phe1635Leu)	COL11A1 (F1519L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1193496	NM_001854.4(COL11A1):c.4886G>T (p.Gly1629Val)	COL11A1 (G1513V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309856	NM_001854.4(COL11A1):c.4865A>G (p.Tyr1622Cys)	COL11A1 (Y1506C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 390131	NM_001854.4(COL11A1):c.4859-19A>G	COL11A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1198517	NM_001854.4(COL11A1):c.4859-148G>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236017	NM_001854.4(COL11A1):c.4859-243C>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194627	NM_001854.4(COL11A1):c.4858+305_4858+306del	COL11A1	Deletion (intron variant)	not provided	GLikely benign
Select item 681207	NM_001854.4(COL11A1):c.4858+287G>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305797	NM_001854.4(COL11A1):c.4819T>C (p.Cys1607Arg)	COL11A1 (C1491R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976000	NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)	COL11A1 (R1566Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 291495	NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)	COL11A1 (N1602S +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 392007	NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	COL11A1 (T1601N +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1301266	NM_001854.4(COL11A1):c.4792G>A (p.Gly1598Ser)	COL11A1 (G1482S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663226	NM_001854.4(COL11A1):c.4771G>A (p.Glu1591Lys)	COL11A1 (E1475K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 258470	NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, autosomal dominant 37 +5 more	GBenign
Select item 1188027	NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 291497	NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 393244	NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)	COL11A1 (S1573L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2499281	NM_001854.4(COL11A1):c.4717T>G (p.Ser1573Ala)	COL11A1 (S1457A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304994	NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro)	COL11A1 (S1457P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1394936	NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr)	COL11A1 (D1455Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1175403	NM_001854.4(COL11A1):c.4710T>C (p.Leu1570=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1418086	NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	COL11A1 (L1531P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 258469	NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1065055	NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly)	COL11A1 (D1451G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1380533	NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)	COL11A1 (D1566Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 3371548	NM_001854.4(COL11A1):c.4685A>C (p.Gln1562Pro)	COL11A1 (Q1446P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1186423	NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1331153	NM_001854.4(COL11A1):c.4672A>G (p.Thr1558Ala)	COL11A1 (T1442A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817811	NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs)	COL11A1 (T1566fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 432840	NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)	COL11A1 (T1554M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1302271	NM_001854.4(COL11A1):c.4660A>C (p.Thr1554Pro)	COL11A1 (T1438P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212075	NM_001854.4(COL11A1):c.4656A>G (p.Lys1552=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 291498	NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)	COL11A1 (I1555L +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1304346	NM_001854.4(COL11A1):c.4619G>A (p.Gly1540Asp)	COL11A1 (G1424D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014453	NM_001854.4(COL11A1):c.4618G>A (p.Gly1540Ser)	COL11A1 (G1424S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309453	NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser)	COL11A1 (P1423S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1218804	NM_001854.4(COL11A1):c.4613C>T (p.Pro1538Leu)	COL11A1 (P1422L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1279227	NM_001854.4(COL11A1):c.4609-161G>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271639	NM_001854.4(COL11A1):c.4609-189C>T	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681206	NM_001854.4(COL11A1):c.4608+266G>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286059	NM_001854.4(COL11A1):c.4608+233T>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250166	NM_001854.4(COL11A1):c.4608+200C>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177764	NM_001854.4(COL11A1):c.4608+199G>A	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297255	NM_001854.4(COL11A1):c.4608+142A>T	COL11A1	Single nucleotide variant (intron variant)	not provided	GBenign

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