1297[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 1130

<< First< Prev

Page of 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1544601.	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 GRCh37: Chr6:65259548-84136510 GRCh38: Chr6:64549655-83426791	ADGRB3, ADGRB3-DT, B3GAT2, BCKDHB, C6orf147, CD109, CD109-AS1, CGAS, COL12A1, COL19A1, COL9A1, COX7A2, DDX43, DOP1A, DPPA5, EEF1A1, EEF1A1-AS1, ELOVL4, ERVH-3, EYS, FAM135A, FAM135A-AS1, FILIP1, HMGN3, HMGN3-AS1, HTR1B, IBTK, IMPG1, IRAK1BP1, KCNQ5, KCNQ5-AS1, KCNQ5-DT, KCNQ5-IT1, KHDC1, KHDC1-AS1, KHDC1L, KHDC3L, LCA5, LCAL1, LINC00472, LINC01526, LINC01610, LINC01621, LINC01626, LINC02540, LINC02542, LINC02549, LMBRD1, LOC101928516, LOC101928540, LOC102723883, LOC105377858, LOC105377862, LOC113175017, LOC113175018, LOC114004403, LOC114004404, LOC121132691, LOC121132692, LOC121132693, LOC121132694, LOC121132695, LOC121740655, LOC121740656, LOC121740657, LOC122539213, LOC123744837, LOC123744838, LOC123744839, LOC123744840, LOC123744841, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC126859701, LOC126859702, LOC126859703, LOC126859704, LOC126859705, LOC126859706, LOC126859707, LOC126859708, LOC126859709, LOC126859710, LOC126859711, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC127898563, LOC129389546, LOC129389547, LOC129389548, LOC129389549, LOC129389550, LOC129389551, LOC129389552, LOC129389553, LOC129389554, LOC129389555, LOC129389556, LOC129389557, LOC129389558, LOC129389559, LOC129389560, LOC129389561, LOC129389562, LOC129389563, LOC129389564, LOC129389565, LOC129389566, LOC129996684, LOC129996685, LOC129996686, LOC129996687, LOC129996688, LOC129996689, LOC129996690, LOC129996691, LOC129996692, LOC129996693, LOC129996694, LOC129996695, LOC129996696, LOC129996697, LOC129996698, LOC129996699, LOC129996700, LOC129996701, LOC129996702, LOC129996703, LOC129996704, LOC129996705, LOC129996706, LOC129996707, LOC129996708, LOC129996709, LOC129996710, LOC129996711, LOC129996712, LOC129996713, LOC129996714, LOC129996715, LOC129996716, LOC129996717, LOC129996718, LOC129996719, LOC129996720, LOC129996721, LOC129996722, LOC129996723, LOC129996724, LOC129996725, LOC129996726, LOC129996727, LOC129996728, LOC129996729, LOC129996730, LOC129996731, LOC129996732, LOC129996733, LOC129996734, LOC129996735, LOC129996736, LOC129996737, LOC129996738, LOC129996739, LOC129996740, LOC129996741, LOC129996742, LOC129996743, LOC129996744, LOC129996745, LOC129996746, LOC129996747, LOC129996748, LOC129996749, LOC129996750, LOC129996751, LOC129996752, LOC129996753, LOC129996754, LOC129996755, LOC129996756, LOC129996757, LOC129996758, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC132089414, LOC132089415, LOC132089416, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132089426, LOC132089427, LOC132089428, LOC132089429, LOC132089430, LOC132089431, LOC132089432, LOC132089433, LOC132089434, LOC132089435, LOC132089436, LOC132089437, LOC132089438, LOC132089439, LOC132089440, LOC132089441, LOC132089442, LOC132089443, LOC132089444, LOC132089445, LOC132089446, LOC132089448, LOC132089449, LOC132089450, LOC132089451, LOC132089452, LOC132089453, LOC132089454, LOC132089455, LOC132089456, LOC132089457, LOC132089458, LOC132089459, LOC132089460, LOC132089461, LOC132089462, LOC132089463, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132090758, LOC132090759, LOC132090760, LOC132090761, LOC132090762, LOC132090763, LOC132205963, LOC132205964, LOC132205965, ME1, MEI4, MIR10524, MIR30A, MIR30C2, MIR4282, MIR4463, MTO1, MYO6, OGFRL1, OOEP, OOEP-AS1, ORI343, PGM3, PHIP, RIMS1, RWDD2A, SDHAF4, SENP6, SH3BGRL2, SLC17A5, SMAP1, SNORD156, TENT5A, TMEM30A, TMEM30A-DT, TPBG, TTK, UBE3D, ZC3H11C		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 1489922.	GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4 GRCh37: Chr6:69445541-71504096 GRCh38: Chr6:68735649-70794393	ADGRB3, COL19A1, COL9A1, FAM135A, FAM135A-AS1, LINC01610, LMBRD1, LOC114004404, LOC121132692, LOC121132693, LOC121132694, LOC123744838, LOC126859704, LOC126859705, LOC126859706, LOC129389551, LOC129389552, LOC129996686, LOC129996687, LOC129996688, LOC129996689, LOC129996690, LOC129996691, LOC129996692, LOC129996693, LOC129996694, LOC129996695, LOC129996696, LOC129996697, LOC129996698, LOC129996699, LOC129996700, LOC129996701, LOC129996702, LOC132089445, SDHAF4, SMAP1		See cases	Pathogenic (Jan 3, 2012)	no assertion criteria provided
Select item 1551763.	GRCh38/hg38 6q13(chr6:70026943-70923391)x3 GRCh37: Chr6:70736835-71633094 GRCh38: Chr6:70026943-70923391	B3GAT2, COL19A1, COL9A1, FAM135A, FAM135A-AS1, LINC01610, LOC123744838, LOC129389552, LOC129996692, LOC129996693, LOC129996694, LOC129996695, LOC129996696, LOC129996697, LOC129996698, LOC129996699, LOC129996700, LOC129996701, LOC129996702, LOC129996703, SDHAF4, SMAP1		See cases	Uncertain significance (Dec 10, 2012)	no assertion criteria provided
Select item 12718914.	NM_001851.6(COL9A1):c.*266T>C GRCh37: Chr6:70926334 GRCh38: Chr6:70216631	COL9A1		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 3577925.	NM_001851.6(COL9A1):c.*247dup GRCh37: Chr6:70926352-70926353 GRCh38: Chr6:70216649-70216650	COL9A1		Stickler Syndrome, Recessive, Multiple Epiphyseal Dysplasia, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 12592196.	NM_001851.6(COL9A1):c.241_242dup GRCh37: Chr6:70926357-70926358 GRCh38: Chr6:70216654-70216655	COL9A1		not provided	Benign (Aug 6, 2019)	criteria provided, single submitter
Select item 3577937.	NM_001851.6(COL9A1):c.*242dup GRCh37: Chr6:70926357-70926358 GRCh38: Chr6:70216654-70216655	COL9A1		Stickler Syndrome, Recessive, Multiple Epiphyseal Dysplasia, Dominant, not provided	Benign (Aug 18, 2019)	criteria provided, multiple submitters, no conflicts
Select item 11895268.	NM_001851.6(COL9A1):c.*242del GRCh37: Chr6:70926358 GRCh38: Chr6:70216655	COL9A1		not provided	Likely benign (Aug 10, 2019)	criteria provided, single submitter
Select item 12307099.	NM_001851.6(COL9A1):c.*229T>C GRCh37: Chr6:70926371 GRCh38: Chr6:70216668	COL9A1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 35779510.	NM_001851.6(COL9A1):c.*174T>C GRCh37: Chr6:70926426 GRCh38: Chr6:70216723	COL9A1		Stickler Syndrome, Recessive, Multiple Epiphyseal Dysplasia, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 104391511.	NM_001851.6(COL9A1):c.2761C>T (p.Pro921Ser) GRCh37: Chr6:70926605 GRCh38: Chr6:70216902	COL9A1	P688S, P921S, P629S, P678S	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 115394912.	NM_001851.6(COL9A1):c.2754G>A (p.Gly918=) GRCh37: Chr6:70926612 GRCh38: Chr6:70216909	COL9A1		not provided	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 154650113.	NM_001851.6(COL9A1):c.2739A>G (p.Arg913=) GRCh37: Chr6:70926627 GRCh38: Chr6:70216924	COL9A1		not provided	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 102443514.	NM_001851.6(COL9A1):c.2737C>T (p.Arg913Ter) GRCh37: Chr6:70926629 GRCh38: Chr6:70216926	COL9A1	R621, R670, R680, R913	not provided	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 194746915.	NM_001851.6(COL9A1):c.2724G>A (p.Met908Ile) GRCh37: Chr6:70926642 GRCh38: Chr6:70216939	COL9A1	M908I, M675I, M616I, M665I	not provided	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 96126816.	NM_001851.6(COL9A1):c.2723T>C (p.Met908Thr) GRCh37: Chr6:70926643 GRCh38: Chr6:70216940	COL9A1	M665T, M908T, M616T, M675T	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 121456017.	NM_001851.6(COL9A1):c.2721C>T (p.Thr907=) GRCh37: Chr6:70926645 GRCh38: Chr6:70216942	COL9A1		not provided	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94386518.	NM_001851.6(COL9A1):c.2711C>G (p.Ala904Gly) GRCh37: Chr6:70926655 GRCh38: Chr6:70216952	COL9A1	A612G, A671G, A661G, A904G	not provided	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 171443919.	NM_001851.6(COL9A1):c.2702G>A (p.Cys901Tyr) GRCh37: Chr6:70926664 GRCh38: Chr6:70216961	COL9A1	C609Y, C658Y, C668Y, C901Y	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 191376220.	NM_001851.6(COL9A1):c.2695G>A (p.Gly899Ser) GRCh37: Chr6:70926671 GRCh38: Chr6:70216968	COL9A1	G656S, G666S, G899S, G607S	not provided	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 73738421.	NM_001851.6(COL9A1):c.2694C>T (p.Pro898=) GRCh37: Chr6:70926672 GRCh38: Chr6:70216969	COL9A1		not provided	Likely benign (Oct 23, 2021)	criteria provided, single submitter
Select item 201464222.	NM_001851.6(COL9A1):c.2684C>G (p.Pro895Arg) GRCh37: Chr6:70926682 GRCh38: Chr6:70216979	COL9A1	P895R, P652R, P662R, P603R	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 42633823.	NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu) GRCh37: Chr6:70926682 GRCh38: Chr6:70216979	COL9A1	P895L, P652L, P603L, P662L	not provided	Uncertain significance (Apr 20, 2017)	criteria provided, single submitter
Select item 35779824.	NM_001851.6(COL9A1):c.2676G>A (p.Pro892=) GRCh37: Chr6:70926690 GRCh38: Chr6:70216987	COL9A1		not provided	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 59364525.	NM_001851.6(COL9A1):c.2675C>T (p.Pro892Leu) GRCh37: Chr6:70926691 GRCh38: Chr6:70216988	COL9A1	P892L, P649L, P600L, P659L	not provided	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42362026.	NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser) GRCh37: Chr6:70926695 GRCh38: Chr6:70216992	COL9A1	P891S, P648S, P599S, P658S	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148678127.	NM_001851.6(COL9A1):c.2655T>G (p.Ile885Met) GRCh37: Chr6:70926711 GRCh38: Chr6:70217008	COL9A1	I652M, I642M, I885M, I593M	not provided	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 98439328.	NM_001851.6(COL9A1):c.2644del (p.Val882fs) GRCh37: Chr6:70926722 GRCh38: Chr6:70217019	COL9A1	V590fs, V639fs, V649fs, V882fs	Sensorineural hearing impairment	Pathogenic (Sep 30, 2020)	criteria provided, single submitter
Select item 111861529.	NM_001851.6(COL9A1):c.2643G>A (p.Gly881=) GRCh37: Chr6:70926723 GRCh38: Chr6:70217020	COL9A1		not provided	Likely benign (Aug 26, 2020)	criteria provided, single submitter
Select item 189730430.	NM_001851.6(COL9A1):c.2637C>T (p.Pro879=) GRCh37: Chr6:70926729 GRCh38: Chr6:70217026	COL9A1		not provided	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 198166931.	NM_001851.6(COL9A1):c.2636C>A (p.Pro879His) GRCh37: Chr6:70926730 GRCh38: Chr6:70217027	COL9A1	P636H, P646H, P587H, P879H	not provided	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 131736132.	NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln) GRCh37: Chr6:70926736 GRCh38: Chr6:70217033	COL9A1	R585Q, R634Q, R644Q, R877Q	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168659333.	NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter) GRCh37: Chr6:70926737 GRCh38: Chr6:70217034	COL9A1	R585, R634, R644, R877	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 93438034.	NM_001851.6(COL9A1):c.2628G>T (p.Glu876Asp) GRCh37: Chr6:70926738 GRCh38: Chr6:70217035	COL9A1	E876D, E584D, E643D, E633D	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 147389035.	NM_001851.6(COL9A1):c.2626G>C (p.Glu876Gln) GRCh37: Chr6:70926740 GRCh38: Chr6:70217037	COL9A1	E633Q, E876Q, E584Q, E643Q	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 134732036.	NM_001851.6(COL9A1):c.2626G>A (p.Glu876Lys) GRCh37: Chr6:70926740 GRCh38: Chr6:70217037	COL9A1	E643K, E584K, E876K, E633K	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 211877237.	NM_001851.6(COL9A1):c.2623G>C (p.Gly875Arg) GRCh37: Chr6:70926743 GRCh38: Chr6:70217040	COL9A1	G632R, G875R, G583R, G642R	not provided	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 45103138.	NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) GRCh37: Chr6:70926743 GRCh38: Chr6:70217040	COL9A1	G875S, G632S, G583S, G642S	not provided, Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4	Uncertain significance (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 35779939.	NM_001851.6(COL9A1):c.2622C>T (p.Asp874=) GRCh37: Chr6:70926744 GRCh38: Chr6:70217041	COL9A1		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 218859140.	NM_001851.6(COL9A1):c.2618G>A (p.Arg873Gln) GRCh37: Chr6:70926748 GRCh38: Chr6:70217045	COL9A1	R640Q, R873Q, R581Q, R630Q	not provided	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 132832341.	NM_001851.6(COL9A1):c.2618G>T (p.Arg873Leu) GRCh37: Chr6:70926748 GRCh38: Chr6:70217045	COL9A1	R581L, R630L, R640L, R873L	not provided	Uncertain significance	no assertion criteria provided
Select item 196754542.	NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter) GRCh37: Chr6:70926749 GRCh38: Chr6:70217046	COL9A1	R873, R581, R630, R640	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 35780043.	NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly) GRCh37: Chr6:70926749 GRCh38: Chr6:70217046	COL9A1	R873G, R630G, R581G, R640G	not provided, Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108153044.	NM_001851.6(COL9A1):c.2613T>C (p.Asn871=) GRCh37: Chr6:70926753 GRCh38: Chr6:70217050	COL9A1		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 131618445.	NM_001851.6(COL9A1):c.2605G>C (p.Gly869Arg) GRCh37: Chr6:70926761 GRCh38: Chr6:70217058	COL9A1	G577R, G626R, G636R, G869R	not provided	Uncertain significance (Jul 30, 2019)	criteria provided, single submitter
Select item 195370646.	NM_001851.6(COL9A1):c.2597C>A (p.Ala866Asp) GRCh37: Chr6:70926769 GRCh38: Chr6:70217066	COL9A1	A574D, A623D, A633D, A866D	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 171540347.	NM_001851.6(COL9A1):c.2596G>A (p.Ala866Thr) GRCh37: Chr6:70926770 GRCh38: Chr6:70217067	COL9A1	A574T, A623T, A633T, A866T	not provided	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 146765248.	NM_001851.6(COL9A1):c.2594C>T (p.Pro865Leu) GRCh37: Chr6:70926772 GRCh38: Chr6:70217069	COL9A1	P573L, P622L, P632L, P865L	not provided	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 151230249.	NM_001851.6(COL9A1):c.2593C>T (p.Pro865Ser) GRCh37: Chr6:70926773 GRCh38: Chr6:70217070	COL9A1	P622S, P632S, P865S, P573S	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 28815750.	NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser) GRCh37: Chr6:70926776 GRCh38: Chr6:70217073	COL9A1	G864S, G621S, G572S, G631S	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28465751.	NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) GRCh37: Chr6:70926781 GRCh38: Chr6:70217078	COL9A1	D862A, D619A, D570A, D629A	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 199432652.	NM_001851.6(COL9A1):c.2583T>G (p.Gly861=) GRCh37: Chr6:70926783 GRCh38: Chr6:70217080	COL9A1		not provided	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 120368253.	NM_001851.6(COL9A1):c.2582-3C>T GRCh37: Chr6:70926787 GRCh38: Chr6:70217084	COL9A1		not provided	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 163028454.	NM_001851.6(COL9A1):c.2582-11G>A GRCh37: Chr6:70926795 GRCh38: Chr6:70217092	COL9A1		not provided	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 204084855.	NM_001851.6(COL9A1):c.2582-13C>T GRCh37: Chr6:70926797 GRCh38: Chr6:70217094	COL9A1		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 68004656.	NM_001851.6(COL9A1):c.2582-103G>A GRCh37: Chr6:70926887 GRCh38: Chr6:70217184	COL9A1		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 126828557.	NM_001851.6(COL9A1):c.2582-114C>T GRCh37: Chr6:70926898 GRCh38: Chr6:70217195	COL9A1		not provided	Benign (Aug 8, 2019)	criteria provided, single submitter
Select item 129823458.	NM_001851.6(COL9A1):c.2582-149C>G GRCh37: Chr6:70926933 GRCh38: Chr6:70217230	COL9A1		not provided	Benign (Aug 18, 2019)	criteria provided, single submitter
Select item 67966059.	NM_001851.6(COL9A1):c.2582-164T>C GRCh37: Chr6:70926948 GRCh38: Chr6:70217245	COL9A1		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 118307260.	NM_001851.6(COL9A1):c.2582-231A>T GRCh37: Chr6:70927015 GRCh38: Chr6:70217312	COL9A1		not provided	Likely benign (Oct 1, 2018)	criteria provided, single submitter
Select item 196691961.	NM_001851.6(COL9A1):c.2581+15T>C GRCh37: Chr6:70935620 GRCh38: Chr6:70225917	COL9A1		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 194043162.	NM_001851.6(COL9A1):c.2581+5G>A GRCh37: Chr6:70935630 GRCh38: Chr6:70225927	COL9A1		not provided	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 204950063.	NM_001851.6(COL9A1):c.2579C>G (p.Pro860Arg) GRCh37: Chr6:70935637 GRCh38: Chr6:70225934	COL9A1	P627R, P860R, P568R, P617R	not provided	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 102637664.	NM_001851.6(COL9A1):c.2572G>T (p.Gly858Cys) GRCh37: Chr6:70935644 GRCh38: Chr6:70225941	COL9A1	G566C, G615C, G625C, G858C	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 140789165.	NM_001851.6(COL9A1):c.2569A>G (p.Ile857Val) GRCh37: Chr6:70935647 GRCh38: Chr6:70225944	COL9A1	I857V, I565V, I614V, I624V	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 11, 2023)	criteria provided, conflicting interpretations
Select item 19700266.	NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) GRCh37: Chr6:70935654 GRCh38: Chr6:70225951	COL9A1		not provided, not specified, Connective tissue disorder	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 150226967.	NM_001851.6(COL9A1):c.2561C>T (p.Pro854Leu) GRCh37: Chr6:70935655 GRCh38: Chr6:70225952	COL9A1	P621L, P611L, P562L, P854L	not provided	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 96988468.	NM_001851.6(COL9A1):c.2558T>C (p.Leu853Ser) GRCh37: Chr6:70935658 GRCh38: Chr6:70225955	COL9A1	L561S, L610S, L620S, L853S	not provided	Uncertain significance (Sep 7, 2021)	criteria provided, single submitter
Select item 209832469.	NM_001851.6(COL9A1):c.2554G>C (p.Gly852Arg) GRCh37: Chr6:70935662 GRCh38: Chr6:70225959	COL9A1	G560R, G619R, G609R, G852R	not provided	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 113113970.	NM_001851.6(COL9A1):c.2553C>T (p.Asn851=) GRCh37: Chr6:70935663 GRCh38: Chr6:70225960	COL9A1		not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149337471.	NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) GRCh37: Chr6:70935664 GRCh38: Chr6:70225961	COL9A1	N559S, N608S, N851S, N618S	not provided, Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131897572.	NM_001851.6(COL9A1):c.2546G>A (p.Gly849Asp) GRCh37: Chr6:70935670 GRCh38: Chr6:70225967	COL9A1	G557D, G606D, G616D, G849D	not provided	Uncertain significance (Apr 15, 2019)	criteria provided, single submitter
Select item 139613173.	NM_001851.6(COL9A1):c.2537C>G (p.Pro846Arg) GRCh37: Chr6:70935679 GRCh38: Chr6:70225976	COL9A1	P603R, P613R, P846R, P554R	not provided	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 108151874.	NM_001851.6(COL9A1):c.2535T>C (p.Pro845=) GRCh37: Chr6:70935681 GRCh38: Chr6:70225978	COL9A1		not provided	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 137734675.	NM_001851.6(COL9A1):c.2528G>A (p.Arg843His) GRCh37: Chr6:70935688 GRCh38: Chr6:70225985	COL9A1	R551H, R843H, R600H, R610H	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 144674276.	NM_001851.6(COL9A1):c.2527C>T (p.Arg843Cys) GRCh37: Chr6:70935689 GRCh38: Chr6:70225986	COL9A1	R610C, R843C, R600C, R551C	not provided	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 111395177.	NM_001851.6(COL9A1):c.2520G>A (p.Lys840=) GRCh37: Chr6:70935696 GRCh38: Chr6:70225993	COL9A1		not provided	Likely benign (Jul 9, 2021)	criteria provided, single submitter
Select item 230741178.	NM_001851.6(COL9A1):c.2510T>C (p.Leu837Ser) GRCh37: Chr6:70935706 GRCh38: Chr6:70226003	COL9A1	L545S, L594S, L604S, L837S	Inborn genetic diseases	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 111268679.	NM_001851.6(COL9A1):c.2504-5T>C GRCh37: Chr6:70935717 GRCh38: Chr6:70226014	COL9A1		not provided	Likely benign (Apr 27, 2020)	criteria provided, single submitter
Select item 263762180.	NM_001851.6(COL9A1):c.2504-11A>G GRCh37: Chr6:70935723 GRCh38: Chr6:70226020	COL9A1		not specified	Uncertain significance (Oct 6, 2023)	criteria provided, single submitter
Select item 202946681.	NM_001851.6(COL9A1):c.2504-13T>C GRCh37: Chr6:70935725 GRCh38: Chr6:70226022	COL9A1		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 157269782.	NM_001851.6(COL9A1):c.2504-17_2504-13del GRCh37: Chr6:70935725-70935729 GRCh38: Chr6:70226022-70226026	COL9A1		not provided	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 163901283.	NM_001851.6(COL9A1):c.2504-19T>C GRCh37: Chr6:70935731 GRCh38: Chr6:70226028	COL9A1		not provided	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 124129284.	NM_001851.6(COL9A1):c.2504-47A>G GRCh37: Chr6:70935759 GRCh38: Chr6:70226056	COL9A1		not provided	Benign (Jul 7, 2018)	criteria provided, single submitter
Select item 122493985.	NM_001851.6(COL9A1):c.2503+69C>T GRCh37: Chr6:70942217 GRCh38: Chr6:70232514	COL9A1		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 212607486.	NM_001851.6(COL9A1):c.2495G>T (p.Gly832Val) GRCh37: Chr6:70942294 GRCh38: Chr6:70232591	COL9A1	G589V, G599V, G832V, G540V	not provided	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 147744787.	NM_001851.6(COL9A1):c.2492G>A (p.Arg831Lys) GRCh37: Chr6:70942297 GRCh38: Chr6:70232594	COL9A1	R588K, R598K, R539K, R831K	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 209711688.	NM_001851.6(COL9A1):c.2489T>C (p.Leu830Ser) GRCh37: Chr6:70942300 GRCh38: Chr6:70232597	COL9A1	L587S, L597S, L830S, L538S	not provided	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 263733689.	NM_001851.6(COL9A1):c.2485G>A (p.Gly829Ser) GRCh37: Chr6:70942304 GRCh38: Chr6:70232601	COL9A1	G537S, G586S, G596S, G829S	COL9A1-related condition	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 25835990.	NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) GRCh37: Chr6:70942319 GRCh38: Chr6:70232616	COL9A1	P824T, P581T, P532T, P591T	Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, not specified, not provided, Connective tissue disorder	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138435891.	NM_001851.6(COL9A1):c.2457G>A (p.Pro819=) GRCh37: Chr6:70942332 GRCh38: Chr6:70232629	COL9A1		not provided	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 106495492.	NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu) GRCh37: Chr6:70942333 GRCh38: Chr6:70232630	COL9A1	P527L, P576L, P586L, P819L	not provided, Hearing impairment	Uncertain significance (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 199576693.	NM_001851.6(COL9A1):c.2454T>C (p.Leu818=) GRCh37: Chr6:70942335 GRCh38: Chr6:70232632	COL9A1		not provided	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 136958094.	NM_001851.6(COL9A1):c.2453T>A (p.Leu818His) GRCh37: Chr6:70942336 GRCh38: Chr6:70232633	COL9A1	L585H, L818H, L526H, L575H	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 198773695.	NM_001851.6(COL9A1):c.2451C>A (p.Gly817=) GRCh37: Chr6:70942338 GRCh38: Chr6:70232635	COL9A1		not provided	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 166578996.	NM_001851.6(COL9A1):c.2448T>C (p.Arg816=) GRCh37: Chr6:70942341 GRCh38: Chr6:70232638	COL9A1		not provided	Likely benign (Jun 14, 2021)	criteria provided, single submitter
Select item 189837897.	NM_001851.6(COL9A1):c.2447G>A (p.Arg816His) GRCh37: Chr6:70942342 GRCh38: Chr6:70232639	COL9A1	R573H, R583H, R816H, R524H	not provided	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 146903798.	NM_001851.6(COL9A1):c.2439G>A (p.Met813Ile) GRCh37: Chr6:70942350 GRCh38: Chr6:70232647	COL9A1	M813I, M521I, M570I, M580I	not provided	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 19697299.	NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) GRCh37: Chr6:70942353 GRCh38: Chr6:70232650	COL9A1	Q812H, Q569H, Q520H, Q579H	not provided	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 1430580100.	NM_001851.6(COL9A1):c.2416G>C (p.Glu806Gln) GRCh37: Chr6:70942373 GRCh38: Chr6:70232670	COL9A1	E514Q, E573Q, E806Q, E563Q	not provided	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter

<< First< Prev

Page of 12