2186[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
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 876498	NM_001854.4(COL11A1):c.*1535A>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291473	NM_001854.4(COL11A1):c.*1488G>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
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 876500	NM_001854.4(COL11A1):c.*1301T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291474	NM_001854.4(COL11A1):c.*1239T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873606	NM_001854.4(COL11A1):c.*1230G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291475	NM_001854.4(COL11A1):c.*1227T>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GConflicting classifications of pathogenicity
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 291479	NM_001854.4(COL11A1):c.*1091A>T	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GLikely benign
Select item 874607	NM_001854.4(COL11A1):c.*1082G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291480	NM_001854.4(COL11A1):c.*953G>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 875529	NM_001854.4(COL11A1):c.*901T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 875530	NM_001854.4(COL11A1):c.*876G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 291481	NM_001854.4(COL11A1):c.*809C>T	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GConflicting classifications of pathogenicity
Select item 291482	NM_001854.4(COL11A1):c.*715A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
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 291483	NM_001854.4(COL11A1):c.*687C>T	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	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 291485	NM_001854.4(COL11A1):c.*628dup	COL11A1	Duplication (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +3 more	GUncertain significance
Select item 291486	NM_001854.4(COL11A1):c.*579A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873662	NM_001854.4(COL11A1):c.*535A>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 291487	NM_001854.4(COL11A1):c.*508G>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873663	NM_001854.4(COL11A1):c.*486T>C	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 873664	NM_001854.4(COL11A1):c.*426A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
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 291489	NM_001854.4(COL11A1):c.*240A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Stickler syndrome type 2 +1 more	GUncertain significance
Select item 874648	NM_001854.4(COL11A1):c.*184A>G	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
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 875590	NM_001854.4(COL11A1):c.*40C>A	COL11A1	Single nucleotide variant (3 prime UTR variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
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 2708584	NM_001854.4(COL11A1):c.5421A>G (p.Ter1807=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1993911	NM_001854.4(COL11A1):c.5420A>G (p.Ter1807=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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	GLikely benign
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 1473794	NM_001854.4(COL11A1):c.5410T>C (p.Phe1804Leu)	COL11A1 (F1816L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 875591	NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu)	COL11A1 (P1801L +3 more)	Single nucleotide variant (missense variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 2723170	NM_001854.4(COL11A1):c.5401C>T (p.Pro1801Ser)	COL11A1 (P1801S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623441	NM_001854.4(COL11A1):c.5401C>G (p.Pro1801Ala)	COL11A1 (P1762A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1488238	NM_001854.4(COL11A1):c.5398G>A (p.Gly1800Ser)	COL11A1 (G1761S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2547421	NM_001854.4(COL11A1):c.5390T>G (p.Phe1797Cys)	COL11A1 (F1797C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1491400	NM_001854.4(COL11A1):c.5372_5373delinsGC (p.Gln1791Arg)	COL11A1 (Q1752R +3 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1515896	NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)	COL11A1 (Q1752R +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2763316	NM_001854.4(COL11A1):c.5360A>T (p.Asp1787Val)	COL11A1 (D1799V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1065032	NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn)	COL11A1 (D1671N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2630909	NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs)	COL11A1 (N1670fs +3 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 2046935	NM_001854.4(COL11A1):c.5355C>A (p.Ile1785=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017271	NM_001854.4(COL11A1):c.5343T>G (p.Val1781=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1993994	NM_001854.4(COL11A1):c.5331A>C (p.Gln1777His)	COL11A1 (Q1738H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2840025	NM_001854.4(COL11A1):c.5307_5327del (p.Glu1769_Ile1775del)	COL11A1	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
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)	Stickler syndrome type 2 +2 more	GBenign/Likely benign
Select item 2977616	NM_001854.4(COL11A1):c.5323A>C (p.Ile1775Leu)	COL11A1 (I1736L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1346158	NM_001854.4(COL11A1):c.5317C>T (p.Pro1773Ser)	COL11A1 (P1773S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1056100	NM_001854.4(COL11A1):c.5317C>A (p.Pro1773Thr)	COL11A1 (P1657T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2973145	NM_001854.4(COL11A1):c.5312A>C (p.Asn1771Thr)	COL11A1 (N1771T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2104549	NM_001854.4(COL11A1):c.5312A>G (p.Asn1771Ser)	COL11A1 (N1655S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1091654	NM_001854.4(COL11A1):c.5304T>C (p.Ile1768=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863756	NM_001854.4(COL11A1):c.5303T>A (p.Ile1768Asn)	COL11A1 (I1768N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1414542	NM_001854.4(COL11A1):c.5296A>T (p.Thr1766Ser)	COL11A1 (T1778S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1981007	NM_001854.4(COL11A1):c.5292A>G (p.Glu1764=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917774	NM_001854.4(COL11A1):c.5291A>G (p.Glu1764Gly)	COL11A1 (E1776G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1029386	NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys)	COL11A1 (Y1724C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 2209748	NM_001854.4(COL11A1):c.5284G>A (p.Gly1762Ser)	COL11A1 (G1646S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1722112	NM_001854.4(COL11A1):c.5280A>T (p.Arg1760Ser)	COL11A1 (R1644S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615966	NM_001854.4(COL11A1):c.5277C>A (p.Ser1759=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 876585	NM_001854.4(COL11A1):c.5275-9A>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 876586	NM_001854.4(COL11A1):c.5275-15T>C	COL11A1	Single nucleotide variant (intron variant)	Fibrochondrogenesis 1 +1 more	GUncertain significance
Select item 2701184	NM_001854.4(COL11A1):c.5275-16C>T	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006099	NM_001854.4(COL11A1):c.5275-20A>G	COL11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1571975	NM_001854.4(COL11A1):c.5274+16G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798349	NM_001854.4(COL11A1):c.5274+11G>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180456	NM_001854.4(COL11A1):c.5274+7A>G	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1065087	NM_001854.4(COL11A1):c.5274+4A>C	COL11A1, LOC126805814	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 2547457	NM_001854.4(COL11A1):c.5273C>A (p.Ala1758Glu)	COL11A1, LOC126805814 (A1719E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	not provided +2 more	GUncertain significance
Select item 1398624	NM_001854.4(COL11A1):c.5261A>G (p.Tyr1754Cys)	COL11A1, LOC126805814 (Y1715C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3008394	NM_001854.4(COL11A1):c.5258T>C (p.Leu1753Pro)	COL11A1, LOC126805814 (L1765P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1470495	NM_001854.4(COL11A1):c.5258T>A (p.Leu1753Gln)	COL11A1, LOC126805814 (L1753Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122988	NM_001854.4(COL11A1):c.5250C>T (p.Ile1750=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354394	NM_001854.4(COL11A1):c.5249T>C (p.Ile1750Thr)	LOC126805814, COL11A1 (I1634T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058956	NM_001854.4(COL11A1):c.5247T>C (p.Phe1749=)	COL11A1, LOC126805814	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1390406	NM_001854.4(COL11A1):c.5243C>A (p.Pro1748His)	COL11A1, LOC126805814 (P1748H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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