ClinVar for MedGen (Select 322091) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17055451.	NM_001853.4(COL9A3):c.433G>T (p.Gly145Ter) GRCh37: Chr20:61453472 GRCh38: Chr20:62822120	COL9A3	G145*	Epiphyseal dysplasia, multiple, 3	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16834562.	NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) GRCh37: Chr20:61468560 GRCh38: Chr20:62837208	COL9A3	R577*	Stickler syndrome, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, not provided	Pathogenic/Likely pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16834543.	NM_001853.4(COL9A3):c.183+2T>C GRCh37: Chr20:61449907 GRCh38: Chr20:62818555	COL9A3		Epiphyseal dysplasia, multiple, 3	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16395554.	NM_001853.4(COL9A3):c.577-20G>A GRCh37: Chr20:61456300 GRCh38: Chr20:62824948	COL9A3		not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Likely benign (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14758035.	NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) GRCh37: Chr20:61468606 GRCh38: Chr20:62837254	COL9A3	P592L	not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13141176.	NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) GRCh37: Chr20:61450608 GRCh38: Chr20:62819256	COL9A3	P73L	not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13078637.	NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser) GRCh37: Chr20:61467587 GRCh38: Chr20:62836235	COL9A3, LOC126863084	G484S	not provided, Intervertebral disc disorder, Epiphyseal dysplasia, multiple, 3	Uncertain significance (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12988748.	NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) GRCh37: Chr20:61471935 GRCh38: Chr20:62840583	COL9A3	G636S	Intervertebral disc disorder, Epiphyseal dysplasia, multiple, 3, not provided	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12216929.	NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) GRCh37: Chr20:61471947 GRCh38: Chr20:62840595	COL9A3	E640K	not provided, Intervertebral disc disorder, Epiphyseal dysplasia, multiple, 3	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121447410.	NM_001853.4(COL9A3):c.1547C>T (p.Pro516Leu) GRCh37: Chr20:61467684 GRCh38: Chr20:62836332	COL9A3, LOC126863084	P516L	not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112182011.	NM_001853.4(COL9A3):c.1548+8G>A GRCh37: Chr20:61467693 GRCh38: Chr20:62836341	COL9A3, LOC126863084		not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111241712.	NM_001853.4(COL9A3):c.346-19C>T GRCh37: Chr20:61452840 GRCh38: Chr20:62821488	COL9A3		Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, not provided	Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104878313.	NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser) GRCh37: Chr20:61453136 GRCh38: Chr20:62821784	COL9A3	G133S	Epiphyseal dysplasia, multiple, 3	Uncertain significance	no assertion criteria provided
Select item 98352014.	NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) GRCh37: Chr20:61458133 GRCh38: Chr20:62826781	COL9A3	F251L	not provided, Epiphyseal dysplasia, multiple, 3	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93146015.	NM_001853.4(COL9A3):c.184-2A>G GRCh37: Chr20:61450572 GRCh38: Chr20:62819220	COL9A3		Epiphyseal dysplasia, multiple, 3	Likely pathogenic (Jul 10, 2019)	criteria provided, single submitter
Select item 68961516.	NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del) GRCh37: Chr20:61467559-61467576 GRCh38: Chr20:62836207-62836224	COL9A3, LOC126863084		Inborn genetic diseases, Epiphyseal dysplasia, multiple, 3	Uncertain significance (Jul 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63237917.	NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) GRCh37: Chr20:61472061-61472062 GRCh38: Chr20:62840709-62840710	COL9A3	G680fs	Epiphyseal dysplasia, multiple, 3	Uncertain significance (Dec 8, 2018)	criteria provided, single submitter
Select item 63237818.	NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) GRCh37: Chr20:61457571 GRCh38: Chr20:62826219	COL9A3	R234*	Inborn genetic diseases, Epiphyseal dysplasia, multiple, 3	Conflicting interpretations of pathogenicity (Jul 17, 2023)	criteria provided, conflicting interpretations
Select item 58749219.	NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) GRCh37: Chr20:61472016 GRCh38: Chr20:62840664	COL9A3	D663N	not provided, Epiphyseal dysplasia, multiple, 3	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52267020.	NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) GRCh37: Chr20:61461902 GRCh38: Chr20:62830550	COL9A3	P417A	Epiphyseal dysplasia, multiple, 3	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 52266421.	NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) GRCh37: Chr20:61460135 GRCh38: Chr20:62828783	COL9A3	G307D	Epiphyseal dysplasia, multiple, 3	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 48848622.	NM_001853.4(COL9A3):c.183+4A>C GRCh37: Chr20:61449909 GRCh38: Chr20:62818557	COL9A3		Epiphyseal dysplasia, multiple, 3	Likely pathogenic (Oct 19, 2017)	criteria provided, single submitter
Select item 39291823.	NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) GRCh37: Chr20:61453127 GRCh38: Chr20:62821775	COL9A3	G130S	Intervertebral disc disorder, Epiphyseal dysplasia, multiple, 3, Connective tissue disorder, not provided	Uncertain significance (Jul 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 38792524.	NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) GRCh37: Chr20:61453970 GRCh38: Chr20:62822618	COL9A3	A169T	Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37545725.	NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) GRCh37: Chr20:61468578 GRCh38: Chr20:62837226	COL9A3	R583C	Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, not provided, Bilateral sensorineural hearing impairment	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37432026.	NM_001853.4(COL9A3):c.369+2T>C GRCh37: Chr20:61452884 GRCh38: Chr20:62821532	COL9A3		not provided	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 33931027.	NM_001853.4(COL9A3):c.2010C>T (p.Ala670=) GRCh37: Chr20:61472039 GRCh38: Chr20:62840687	COL9A3		Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33927028.	NM_001853.4(COL9A3):c.309+11G>A GRCh37: Chr20:61451345 GRCh38: Chr20:62819993	COL9A3		Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25843729.	NM_001853.4(COL9A3):c.909G>A (p.Pro303=) GRCh37: Chr20:61460124 GRCh38: Chr20:62828772	COL9A3		not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25843330.	NM_001853.4(COL9A3):c.792+19G>A GRCh37: Chr20:61458191 GRCh38: Chr20:62826839	COL9A3		not specified, not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25842631.	NM_001853.4(COL9A3):c.520-6C>T GRCh37: Chr20:61455791 GRCh38: Chr20:62824439	COL9A3		Connective tissue disorder, not specified, not provided, Epiphyseal dysplasia, multiple, 3, Intervertebral disc disorder	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25841732.	NM_001853.4(COL9A3):c.1740T>C (p.Pro580=) GRCh37: Chr20:61468571 GRCh38: Chr20:62837219	COL9A3		not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25840233.	NM_001853.4(COL9A3):c.1008+10C>T GRCh37: Chr20:61460338 GRCh38: Chr20:62828986	COL9A3		not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19587334.	NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) GRCh37: Chr20:61463522 GRCh38: Chr20:62832170	COL9A3	A435E	Connective tissue disorder, not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19587235.	NM_001853.4(COL9A3):c.1288-5T>C GRCh37: Chr20:61463501 GRCh38: Chr20:62832149	COL9A3		not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19515436.	NM_001853.4(COL9A3):c.93C>A (p.Pro31=) GRCh37: Chr20:61448933 GRCh38: Chr20:62817581	COL9A3		not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19321837.	NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) GRCh37: Chr20:61448466 GRCh38: Chr20:62817114	COL9A3	G17E	Connective tissue disorder, not specified, not provided, Epiphyseal dysplasia, multiple, 3	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1714038.	NM_001853.4(COL9A3):c.183+5G>A GRCh37: Chr20:61449910 GRCh38: Chr20:62818558	COL9A3		Epiphyseal dysplasia, multiple, 3	Pathogenic (Jan 15, 2005)	no assertion criteria provided
Select item 1713839.	NM_001853.4(COL9A3):c.148-2A>T GRCh37: Chr20:61449868 GRCh38: Chr20:62818516	COL9A3		Epiphyseal dysplasia, multiple, 3	Pathogenic (Apr 1, 1999)	no assertion criteria provided

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Items: 39