1298[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1499631.	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 GRCh37: Chr1:24707696-41886350 GRCh38: Chr1:24381206-41401517	ADPRS, AGO1, CITED4, CLIC4, FAM167B, FAM229A, HCRTR1, LOC109851610, LOC110120621, LOC112577576, LOC112577577, LOC112577582, LOC115801417, LOC115801418, LOC115801419, LOC120893127, LOC120893128, LOC120893129, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893130, LOC120893131, LOC120893132, LOC121725005, LOC110120729, LOC110120958, LOC112577583, LOC112577584, LOC112577590, LOC112577591, LOC112590790, LOC113939988, LOC112577587, LOC112577588, LOC112577589, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC114803468, HDAC1, HEYL, KPNA6, AGO3, CLSPN, CNKSR1, FAM76A, FCN3, AGO4, CSMD2, CSMD2-AS1, FGR, FHL3, HMGB4, LAPTM5, LCK, LOC110120969, LOC110121002, LOC112577585, LOC112577586, LOC110594336, LOC111464991, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC115801420, LDLRAP1, LINC01778, LINC02574, LINC02811, LITATS1, LOC108254669, LOC101928728, LOC101929536, LOC107988049, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, KIAA0319L, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0754, KIAA1522, FNDC5, GJB4, GJB5, FOXO6, FOXO6-AS1, GJA4, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, GJA9, GJA9-MYCBP, CTPS1, DNAJC8, EPHA10, EVA1B, DCDC2B, GJB3, DNALI1, EIF3I, EPB41, ATP5IF1, C1orf94, CAP1, DHDDS, DHDDS-AS1, DLGAP3, C1orf216, C1orf232, AUNIP, AZIN2, BMP8A, BMP8B, ADGRB2, BSDC1, C1orf122, A3GALT2, AHDC1, AIRIM, AK2, AKIRIN1, ARID1A, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121725012, LOC121725013, LOC121725014, LOC121725016, LOC121725017, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC122056834, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC122056839, LOC122056840, LOC122056841, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC126805692, LOC126805693, LOC126805694, LOC126805695, LOC126805696, LOC126805697, LOC126805698, LOC126805699, LOC126805700, LOC126805701, LOC126805702, LOC126805703, LOC126805704, LOC126805705, LOC126805706, LOC126805707, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC128031832, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1, PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RRAGC-DT, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SCMH1-DT, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF593OS, ZNF683, ZNF684, ZPLD2P, ZSCAN20		See cases	Pathogenic (Jun 1, 2012)	no assertion criteria provided
Select item 599342.	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 GRCh37: Chr1:38574337-42793222 GRCh38: Chr1:38108665-42327551	AKIRIN1, BMP8A, BMP8B, CAP1, CITED4, COL9A2, CTPS1, EDN2, EXO5, FOXJ3, FOXO6, EXO5-DT, FOXO6-AS1, GJA9, GJA9-MYCBP, GUCA2A, GUCA2B, HEYL, HIVEP3, HPCAL4, KCNQ4, KIAA0754, LINC01343, LINC01685, LINC02811, LOC101929536, LOC110120958, LOC110120969, LOC110121002, LOC110121139, LOC110121256, LOC111464991, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC114803468, LOC115801425, LOC120893131, LOC120893132, LOC120893133, LOC121725014, LOC121725016, LOC121725017, LOC121725018, LOC121725019, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC122056848, LOC122056849, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC126805718, LOC128125817, MACF1, MFSD2A, MIR30C1, MIR30E, MIR3659HG, MYCBP, MYCL, MYCL-AS1, NDUFS5, NFYC, NFYC-AS1, NT5C1A, OXCT2, PABPC4, PABPC4-AS1, PPIE, PPT1, RHBDL2, RIMS3, RLF, RRAGC, RRAGC-DT, SCMH1, SCMH1-DT, SLFNL1, SLFNL1-AS1, SMAP2, SNORA55, TMCO2, TRIT1, ZFP69, ZFP69B, ZMPSTE24, ZNF684		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 580723.	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 GRCh37: Chr1:39826419-41366489 GRCh38: Chr1:39360747-40900817	BMP8A, BMP8B, CAP1, CITED4, COL9A2, EXO5, EXO5-DT, HEYL, HPCAL4, KCNQ4, KIAA0754, LINC02811, LOC101929536, LOC111464991, LOC112577597, LOC112577598, LOC112577599, LOC114803468, LOC121725014, LOC122056844, LOC122056845, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, MACF1, MFSD2A, MIR30C1, MIR30E, MYCL, MYCL-AS1, NFYC, NFYC-AS1, NT5C1A, OXCT2, PABPC4, PABPC4-AS1, PPIE, PPT1, RIMS3, RLF, SMAP2, SNORA55, TMCO2, TRIT1, ZFP69, ZFP69B, ZMPSTE24, ZNF684		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 2972784.	NM_001852.4(COL9A2):c.*683G>A GRCh37: Chr1:40766171 GRCh38: Chr1:40300499	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 2972795.	NM_001852.4(COL9A2):c.*578C>T GRCh37: Chr1:40766276 GRCh38: Chr1:40300604	COL9A2		Epiphyseal dysplasia, multiple, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8742786.	NM_001852.4(COL9A2):c.*561A>G GRCh37: Chr1:40766293 GRCh38: Chr1:40300621	COL9A2		Epiphyseal dysplasia, multiple, 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 2972807.	NM_001852.4(COL9A2):c.*543G>A GRCh37: Chr1:40766311 GRCh38: Chr1:40300639	COL9A2		Epiphyseal dysplasia, multiple, 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 2972818.	NM_001852.4(COL9A2):c.*443C>T GRCh37: Chr1:40766411 GRCh38: Chr1:40300739	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8752139.	NM_001852.4(COL9A2):c.*405G>A GRCh37: Chr1:40766449 GRCh38: Chr1:40300777	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29728210.	NM_001852.4(COL9A2):c.*386C>T GRCh37: Chr1:40766468 GRCh38: Chr1:40300796	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29728311.	NM_001852.4(COL9A2):c.*370G>A GRCh37: Chr1:40766484 GRCh38: Chr1:40300812	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87521412.	NM_001852.4(COL9A2):c.*369C>T GRCh37: Chr1:40766485 GRCh38: Chr1:40300813	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29728413.	NM_001852.4(COL9A2):c.*322G>A GRCh37: Chr1:40766532 GRCh38: Chr1:40300860	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29728514.	NM_001852.4(COL9A2):c.*312T>A GRCh37: Chr1:40766542 GRCh38: Chr1:40300870	COL9A2		Epiphyseal dysplasia, multiple, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87617115.	NM_001852.4(COL9A2):c.*263C>T GRCh37: Chr1:40766591 GRCh38: Chr1:40300919	COL9A2		Epiphyseal dysplasia, multiple, 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29728616.	NM_001852.4(COL9A2):c.*236G>A GRCh37: Chr1:40766618 GRCh38: Chr1:40300946	COL9A2		not provided, Epiphyseal dysplasia, multiple, 2	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29728717.	NM_001852.4(COL9A2):c.*230C>T GRCh37: Chr1:40766624 GRCh38: Chr1:40300952	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29728818.	NM_001852.4(COL9A2):c.*122T>C GRCh37: Chr1:40766732 GRCh38: Chr1:40301060	COL9A2		not provided, Epiphyseal dysplasia, multiple, 2	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 87617219.	NM_001852.4(COL9A2):c.*111C>T GRCh37: Chr1:40766743 GRCh38: Chr1:40301071	COL9A2		Epiphyseal dysplasia, multiple, 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 29728920.	NM_001852.4(COL9A2):c.*67A>G GRCh37: Chr1:40766787 GRCh38: Chr1:40301115	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87617321.	NM_001852.4(COL9A2):c.*38G>A GRCh37: Chr1:40766816 GRCh38: Chr1:40301144	COL9A2		Epiphyseal dysplasia, multiple, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 146930022.	NM_001852.4(COL9A2):c.2069G>A (p.Ter690=) GRCh37: Chr1:40766855 GRCh38: Chr1:40301183	COL9A2		not provided	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 201443623.	NM_001852.4(COL9A2):c.2061G>C (p.Lys687Asn) GRCh37: Chr1:40766863 GRCh38: Chr1:40301191	COL9A2	K687N	not provided	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 41790024.	NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) GRCh37: Chr1:40766865 GRCh38: Chr1:40301193	COL9A2	K687E	not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 29123025.	NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) GRCh37: Chr1:40766866 GRCh38: Chr1:40301194	COL9A2		not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 151198726.	NM_001852.4(COL9A2):c.2056A>G (p.Ile686Val) GRCh37: Chr1:40766868 GRCh38: Chr1:40301196	COL9A2	I686V	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214432527.	NM_001852.4(COL9A2):c.2051G>A (p.Gly684Glu) GRCh37: Chr1:40766873 GRCh38: Chr1:40301201	COL9A2	G684E	not provided	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 130601928.	NM_001852.4(COL9A2):c.2048C>T (p.Pro683Leu) GRCh37: Chr1:40766876 GRCh38: Chr1:40301204	COL9A2	P683L	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198345929.	NM_001852.4(COL9A2):c.2037C>T (p.Arg679=) GRCh37: Chr1:40766887 GRCh38: Chr1:40301215	COL9A2		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 87631130.	NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) GRCh37: Chr1:40766888 GRCh38: Chr1:40301216	COL9A2	R679H	not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 19677731.	NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) GRCh37: Chr1:40766905 GRCh38: Chr1:40301233	COL9A2		not specified, not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 204260432.	NM_001852.4(COL9A2):c.2018C>T (p.Ser673Leu) GRCh37: Chr1:40766906 GRCh38: Chr1:40301234	COL9A2	S673L	not provided	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 152014133.	NM_001852.4(COL9A2):c.2012G>A (p.Gly671Glu) GRCh37: Chr1:40766912 GRCh38: Chr1:40301240	COL9A2	G671E	not provided	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 193650834.	NM_001852.4(COL9A2):c.2005T>G (p.Cys669Gly) GRCh37: Chr1:40766919 GRCh38: Chr1:40301247	COL9A2	C669G	not provided	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 210962335.	NM_001852.4(COL9A2):c.2002G>A (p.Ala668Thr) GRCh37: Chr1:40766922 GRCh38: Chr1:40301250	COL9A2	A668T	not provided	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 25838336.	NM_001852.4(COL9A2):c.2001C>T (p.Ala667=) GRCh37: Chr1:40766923 GRCh38: Chr1:40301251	COL9A2		not specified, Epiphyseal dysplasia, multiple, 2, Connective tissue disorder, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143071637.	NM_001852.4(COL9A2):c.1993G>C (p.Glu665Gln) GRCh37: Chr1:40766931 GRCh38: Chr1:40301259	COL9A2	E665Q	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100039238.	NM_001852.4(COL9A2):c.1985G>A (p.Gly662Asp) GRCh37: Chr1:40766939 GRCh38: Chr1:40301267	COL9A2	G662D	Inborn genetic diseases, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101200339.	NM_001852.4(COL9A2):c.1983G>A (p.Pro661=) GRCh37: Chr1:40766941 GRCh38: Chr1:40301269	COL9A2		not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 120991440.	NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg) GRCh37: Chr1:40766942 GRCh38: Chr1:40301270	COL9A2	P661R	Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not provided	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19677841.	NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) GRCh37: Chr1:40766942 GRCh38: Chr1:40301270	COL9A2	P661L	not specified, Connective tissue disorder, not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 25838242.	NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) GRCh37: Chr1:40766943 GRCh38: Chr1:40301271	COL9A2	P661T	not provided, Connective tissue disorder, not specified, Epiphyseal dysplasia, multiple, 2	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50943443.	NM_001852.4(COL9A2):c.1980G>A (p.Leu660=) GRCh37: Chr1:40766944 GRCh38: Chr1:40301272	COL9A2		not specified, not provided	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203148044.	NM_001852.4(COL9A2):c.1977G>T (p.Gly659=) GRCh37: Chr1:40766947 GRCh38: Chr1:40301275	COL9A2		not provided	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 52195045.	NM_001852.4(COL9A2):c.1972G>A (p.Val658Met) GRCh37: Chr1:40766952 GRCh38: Chr1:40301280	COL9A2	V658M	Inborn genetic diseases, not provided	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192037846.	NM_001852.4(COL9A2):c.1971C>T (p.Pro657=) GRCh37: Chr1:40766953 GRCh38: Chr1:40301281	COL9A2		not provided	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 150376347.	NM_001852.4(COL9A2):c.1970C>G (p.Pro657Arg) GRCh37: Chr1:40766954 GRCh38: Chr1:40301282	COL9A2	P657R	not provided	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 164112748.	NM_001852.4(COL9A2):c.1968C>G (p.Gly656=) GRCh37: Chr1:40766956 GRCh38: Chr1:40301284	COL9A2		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 50877949.	NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) GRCh37: Chr1:40766962 GRCh38: Chr1:40301290	COL9A2		not provided	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141768150.	NM_001852.4(COL9A2):c.1961T>C (p.Leu654Pro) GRCh37: Chr1:40766963 GRCh38: Chr1:40301291	COL9A2	L654P	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 147862351.	NM_001852.4(COL9A2):c.1955C>G (p.Pro652Arg) GRCh37: Chr1:40766969 GRCh38: Chr1:40301297	COL9A2	P652R	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148873952.	NM_001852.4(COL9A2):c.1954C>A (p.Pro652Thr) GRCh37: Chr1:40766970 GRCh38: Chr1:40301298	COL9A2	P652T	not provided	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 136373253.	NM_001852.4(COL9A2):c.1952G>A (p.Arg651Gln) GRCh37: Chr1:40766972 GRCh38: Chr1:40301300	COL9A2	R651Q	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 205538954.	NM_001852.4(COL9A2):c.1951C>T (p.Arg651Ter) GRCh37: Chr1:40766973 GRCh38: Chr1:40301301	COL9A2	R651*	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 194103055.	NM_001852.4(COL9A2):c.1943A>C (p.Glu648Ala) GRCh37: Chr1:40766981 GRCh38: Chr1:40301309	COL9A2	E648A	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 141817856.	NM_001852.4(COL9A2):c.1940G>A (p.Gly647Glu) GRCh37: Chr1:40766984 GRCh38: Chr1:40301312	COL9A2	G647E	not provided	Uncertain significance (Nov 6, 2021)	criteria provided, single submitter
Select item 144502357.	NM_001852.4(COL9A2):c.1936C>T (p.Pro646Ser) GRCh37: Chr1:40766988 GRCh38: Chr1:40301316	COL9A2	P646S	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 119910658.	NM_001852.4(COL9A2):c.1925C>A (p.Ser642Tyr) GRCh37: Chr1:40766999 GRCh38: Chr1:40301327	COL9A2	S642Y	not provided	Uncertain significance (Aug 13, 2019)	criteria provided, single submitter
Select item 180418259.	NM_001852.4(COL9A2):c.1919G>A (p.Arg640Gln) GRCh37: Chr1:40767005 GRCh38: Chr1:40301333	COL9A2	R640Q	not provided	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48898260.	NM_001852.4(COL9A2):c.1918C>T (p.Arg640Ter) GRCh37: Chr1:40767006 GRCh38: Chr1:40301334	COL9A2	R640*	COL9A2-Related Disorders, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219566561.	NM_001852.4(COL9A2):c.1915G>A (p.Asp639Asn) GRCh37: Chr1:40767009 GRCh38: Chr1:40301337	COL9A2	D639N	not provided	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 150776362.	NM_001852.4(COL9A2):c.1914A>T (p.Gly638=) GRCh37: Chr1:40767010 GRCh38: Chr1:40301338	COL9A2		not provided	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 199720163.	NM_001852.4(COL9A2):c.1903G>C (p.Gly635Arg) GRCh37: Chr1:40767021 GRCh38: Chr1:40301349	COL9A2	G635R	not provided	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 147491564.	NM_001852.4(COL9A2):c.1903G>A (p.Gly635Ser) GRCh37: Chr1:40767021 GRCh38: Chr1:40301349	COL9A2	G635S	not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 25838165.	NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) GRCh37: Chr1:40767022 GRCh38: Chr1:40301350	COL9A2		not provided, not specified, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (May 19, 2022)	criteria provided, conflicting interpretations
Select item 143148266.	NM_001852.4(COL9A2):c.1901A>G (p.Asn634Ser) GRCh37: Chr1:40767023 GRCh38: Chr1:40301351	COL9A2	N634S	not provided	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158659967.	NM_001852.4(COL9A2):c.1883G>A (p.Arg628Gln) GRCh37: Chr1:40767041 GRCh38: Chr1:40301369	COL9A2	R628Q	not provided	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 141802868.	NM_001852.4(COL9A2):c.1882C>T (p.Arg628Trp) GRCh37: Chr1:40767042 GRCh38: Chr1:40301370	COL9A2	R628W	not provided	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 196203469.	NM_001852.4(COL9A2):c.1873C>T (p.Leu625Phe) GRCh37: Chr1:40767051 GRCh38: Chr1:40301379	COL9A2	L625F	not provided	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 25838070.	NM_001852.4(COL9A2):c.1871-8G>T GRCh37: Chr1:40767061 GRCh38: Chr1:40301389	COL9A2		not provided, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, not specified	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156079971.	NM_001852.4(COL9A2):c.1871-14T>G GRCh37: Chr1:40767067 GRCh38: Chr1:40301395	COL9A2		not provided	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 67873572.	NM_001852.4(COL9A2):c.1870+147G>A GRCh37: Chr1:40767337 GRCh38: Chr1:40301665	COL9A2		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 120045673.	NM_001852.4(COL9A2):c.1870+119del GRCh37: Chr1:40767365 GRCh38: Chr1:40301693	COL9A2		not provided	Likely benign (Sep 7, 2018)	criteria provided, single submitter
Select item 124547574.	NM_001852.4(COL9A2):c.1870+92C>T GRCh37: Chr1:40767392 GRCh38: Chr1:40301720	COL9A2		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 126800375.	NM_001852.4(COL9A2):c.1870+58T>C GRCh37: Chr1:40767426 GRCh38: Chr1:40301754	COL9A2		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 156199576.	NM_001852.4(COL9A2):c.1870+20C>T GRCh37: Chr1:40767464 GRCh38: Chr1:40301792	COL9A2		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 157330177.	NM_001852.4(COL9A2):c.1870+19C>G GRCh37: Chr1:40767465 GRCh38: Chr1:40301793	COL9A2		not provided	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 161822678.	NM_001852.4(COL9A2):c.1870+17G>A GRCh37: Chr1:40767467 GRCh38: Chr1:40301795	COL9A2		not provided	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 195434579.	NM_001852.4(COL9A2):c.1870+16T>G GRCh37: Chr1:40767468 GRCh38: Chr1:40301796	COL9A2		not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 193385080.	NM_001852.4(COL9A2):c.1870+15del GRCh37: Chr1:40767469 GRCh38: Chr1:40301797	COL9A2		not provided	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 205209981.	NM_001852.4(COL9A2):c.1870+13C>T GRCh37: Chr1:40767471 GRCh38: Chr1:40301799	COL9A2		not provided	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 200480182.	NM_001852.4(COL9A2):c.1870+11G>C GRCh37: Chr1:40767473 GRCh38: Chr1:40301801	COL9A2		not provided	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 29729083.	NM_001852.4(COL9A2):c.1870+9T>C GRCh37: Chr1:40767475 GRCh38: Chr1:40301803	COL9A2		not provided, Connective tissue disorder, not specified, Epiphyseal dysplasia, multiple, 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200020684.	NM_001852.4(COL9A2):c.1870+8A>G GRCh37: Chr1:40767476 GRCh38: Chr1:40301804	COL9A2		not provided	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 54630585.	NM_001852.4(COL9A2):c.1870+5G>C GRCh37: Chr1:40767479 GRCh38: Chr1:40301807	COL9A2		not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148126486.	NM_001852.4(COL9A2):c.1870+3A>G GRCh37: Chr1:40767481 GRCh38: Chr1:40301809	COL9A2		not provided	Uncertain significance (Nov 4, 2020)	criteria provided, single submitter
Select item 25837987.	NM_001852.4(COL9A2):c.1866C>T (p.Ile622=) GRCh37: Chr1:40767488 GRCh38: Chr1:40301816	COL9A2		not provided, not specified	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125428988.	NM_001852.4(COL9A2):c.1859C>T (p.Pro620Leu) GRCh37: Chr1:40767495 GRCh38: Chr1:40301823	COL9A2	P620L	not provided	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 59614889.	NM_001852.4(COL9A2):c.1857C>G (p.Pro619=) GRCh37: Chr1:40767497 GRCh38: Chr1:40301825	COL9A2		not provided	Conflicting interpretations of pathogenicity (May 8, 2022)	criteria provided, conflicting interpretations
Select item 216003290.	NM_001852.4(COL9A2):c.1855C>T (p.Pro619Ser) GRCh37: Chr1:40767499 GRCh38: Chr1:40301827	COL9A2	P619S	not provided	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 190085591.	NM_001852.4(COL9A2):c.1850C>G (p.Pro617Arg) GRCh37: Chr1:40767504 GRCh38: Chr1:40301832	COL9A2	P617R	not provided	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 141087592.	NM_001852.4(COL9A2):c.1849C>T (p.Pro617Ser) GRCh37: Chr1:40767505 GRCh38: Chr1:40301833	COL9A2	P617S	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 167536093.	NM_001852.4(COL9A2):c.1848G>A (p.Met616Ile) GRCh37: Chr1:40767506 GRCh38: Chr1:40301834	COL9A2	M616I	not provided	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 59410494.	NM_001852.4(COL9A2):c.1843G>A (p.Gly615Arg) GRCh37: Chr1:40767511 GRCh38: Chr1:40301839	COL9A2	G615R	not provided	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162584895.	NM_001852.4(COL9A2):c.1842C>T (p.Pro614=) GRCh37: Chr1:40767512 GRCh38: Chr1:40301840	COL9A2		not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 198006596.	NM_001852.4(COL9A2):c.1836G>A (p.Gly612=) GRCh37: Chr1:40767518 GRCh38: Chr1:40301846	COL9A2		not provided	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 191789397.	NM_001852.4(COL9A2):c.1836G>C (p.Gly612=) GRCh37: Chr1:40767518 GRCh38: Chr1:40301846	COL9A2		not provided	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 29729198.	NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg) GRCh37: Chr1:40767520 GRCh38: Chr1:40301848	COL9A2	G612R	not provided, Epiphyseal dysplasia, multiple, 2	Conflicting interpretations of pathogenicity (Dec 6, 2022)	criteria provided, conflicting interpretations
Select item 239319799.	NM_001852.4(COL9A2):c.1832G>A (p.Arg611Gln) GRCh37: Chr1:40767522 GRCh38: Chr1:40301850	COL9A2	R611Q	Inborn genetic diseases	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 1312989100.	NM_001852.4(COL9A2):c.1831C>T (p.Arg611Trp) GRCh37: Chr1:40767523 GRCh38: Chr1:40301851	COL9A2	R611W	not provided	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts

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