COL9A3[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1269

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1183916	NC_000020.11:g.62817046G>T	COL9A3	Single nucleotide variant	not provided	GLikely benign
Select item 2429509	NM_001853.4(COL9A3):c.5C>T (p.Ala2Val)	COL9A3 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235240	NM_001853.4(COL9A3):c.5C>A (p.Ala2Asp)	COL9A3 (A2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2034095	NM_001853.4(COL9A3):c.9del (p.Pro4fs)	COL9A3 (P4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1921205	NM_001853.4(COL9A3):c.7G>C (p.Gly3Arg)	COL9A3 (G3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507726	NM_001853.4(COL9A3):c.10C>G (p.Pro4Ala)	COL9A3 (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314108	NM_001853.4(COL9A3):c.11C>T (p.Pro4Leu)	COL9A3 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804296	NM_001853.4(COL9A3):c.13C>A (p.Arg5Ser)	COL9A3 (R5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315133	NM_001853.4(COL9A3):c.13C>T (p.Arg5Cys)	COL9A3 (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843948	NM_001853.4(COL9A3):c.15C>T (p.Arg5=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1058937	NM_001853.4(COL9A3):c.17C>T (p.Ala6Val)	COL9A3 (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013729	NM_001853.4(COL9A3):c.18G>A (p.Ala6=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576341	NM_001853.4(COL9A3):c.18G>T (p.Ala6=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426860	NM_001853.4(COL9A3):c.19T>A (p.Cys7Ser)	COL9A3 (C7S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1540539	NM_001853.4(COL9A3):c.21C>T (p.Cys7=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915027	NM_001853.4(COL9A3):c.22G>A (p.Ala8Thr)	COL9A3 (A8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819384	NM_001853.4(COL9A3):c.23C>T (p.Ala8Val)	COL9A3 (A8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464984	NM_001853.4(COL9A3):c.25C>T (p.Pro9Ser)	COL9A3 (P9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1943211	NM_001853.4(COL9A3):c.26C>G (p.Pro9Arg)	COL9A3 (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486712	NM_001853.4(COL9A3):c.31CTGCTC[5] (p.Leu13_Leu16dup)	COL9A3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1422320	NM_001853.4(COL9A3):c.31CTGCTC[4] (p.Leu15_Leu16dup)	COL9A3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1224425	NM_001853.4(COL9A3):c.26C>T (p.Pro9Leu)	COL9A3 (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980903	NM_001853.4(COL9A3):c.27G>T (p.Pro9=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912695	NM_001853.4(COL9A3):c.31CTGCTC[2] (p.Leu15_Leu16del)	COL9A3	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2847848	NM_001853.4(COL9A3):c.28C>G (p.Leu10Val)	COL9A3 (L10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652508	NM_001853.4(COL9A3):c.33G>A (p.Leu11=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471822	NM_001853.4(COL9A3):c.38_49dup (p.Leu16_Gly17insValLeuLeuLeu)	COL9A3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2784581	NM_001853.4(COL9A3):c.38T>C (p.Leu13Pro)	COL9A3 (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979723	NM_001853.4(COL9A3):c.39G>T (p.Leu13=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897166	NM_001853.4(COL9A3):c.39G>C (p.Leu13=)	COL9A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3067632	NM_001853.4(COL9A3):c.40C>G (p.Leu14Val)	COL9A3 (L14V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095391	NM_001853.4(COL9A3):c.43C>T (p.Leu15=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737336	NM_001853.4(COL9A3):c.46C>T (p.Leu16Phe)	COL9A3 (L16F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844434	NM_001853.4(COL9A3):c.48C>G (p.Leu16=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652509	NM_001853.4(COL9A3):c.49G>C (p.Gly17Arg)	COL9A3 (G17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193218	NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)	COL9A3 (G17E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2060515	NM_001853.4(COL9A3):c.51G>A (p.Gly17=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954178	NM_001853.4(COL9A3):c.57T>A (p.Leu19=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716531	NM_001853.4(COL9A3):c.58C>A (p.Leu20Met)	COL9A3 (L20M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671260	NM_001853.4(COL9A3):c.60G>A (p.Leu20=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056783	NM_001853.4(COL9A3):c.62C>A (p.Ala21Glu)	COL9A3 (A21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088652	NM_001853.4(COL9A3):c.63G>A (p.Ala21=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289663	NM_001853.4(COL9A3):c.72G>A (p.Gly24=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1938738	NM_001853.4(COL9A3):c.73G>A (p.Ala25Thr)	COL9A3 (A25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510445	NM_001853.4(COL9A3):c.74C>A (p.Ala25Glu)	COL9A3 (A25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989542	NM_001853.4(COL9A3):c.76C>A (p.Gln26Lys)	COL9A3 (Q26K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020927	NM_001853.4(COL9A3):c.77A>C (p.Gln26Pro)	COL9A3 (Q26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339263	NM_001853.4(COL9A3):c.78+6C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787118	NM_001853.4(COL9A3):c.78+18G>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212691	NM_001853.4(COL9A3):c.78+96C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228720	NM_001853.4(COL9A3):c.79-140del	COL9A3	Deletion (intron variant)	not provided	GBenign
Select item 1196919	NM_001853.4(COL9A3):c.79-131A>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108732	NM_001853.4(COL9A3):c.79-14T>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419592	NM_001853.4(COL9A3):c.79-11C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374632	NM_001853.4(COL9A3):c.79-9C>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724745	NM_001853.4(COL9A3):c.79-7G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 737679	NM_001853.4(COL9A3):c.79-4T>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935634	NM_001853.4(COL9A3):c.79-3C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2044201	NM_001853.4(COL9A3):c.79-2A>G	COL9A3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1380072	NM_001853.4(COL9A3):c.79-1G>A	COL9A3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1919919	NM_001853.4(COL9A3):c.80G>C (p.Arg27Thr)	COL9A3 (R27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133183	NM_001853.4(COL9A3):c.82G>C (p.Val28Leu)	COL9A3 (V28L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378298	NM_001853.4(COL9A3):c.82G>A (p.Val28Met)	COL9A3 (V28M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013128	NM_001853.4(COL9A3):c.85G>A (p.Gly29Arg)	COL9A3 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218322	NM_001853.4(COL9A3):c.86G>T (p.Gly29Val)	COL9A3 (G29V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2847862	NM_001853.4(COL9A3):c.93CGGCCCCCC[3] (p.Gly41_Lys42insProProGly)	COL9A3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1899452	NM_001853.4(COL9A3):c.93_110del (p.33PPG[1])	COL9A3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 339265	NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2])	COL9A3	Microsatellite (inframe_deletion)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 1471120	NM_001853.4(COL9A3):c.91C>T (p.Pro31Ser)	COL9A3 (P31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195154	NM_001853.4(COL9A3):c.93C>A (p.Pro31=)	COL9A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1467909	NM_001853.4(COL9A3):c.102dup (p.Gly35fs)	COL9A3 (G35fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1437544	NM_001853.4(COL9A3):c.95G>A (p.Gly32Asp)	COL9A3 (G32D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031897	NM_001853.4(COL9A3):c.96C>A (p.Gly32=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738208	NM_001853.4(COL9A3):c.96C>T (p.Gly32=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512599	NM_001853.4(COL9A3):c.97C>G (p.Pro33Ala)	COL9A3 (P33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426054	NM_001853.4(COL9A3):c.97C>A (p.Pro33Thr)	COL9A3 (P33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359740	NM_001853.4(COL9A3):c.97C>T (p.Pro33Ser)	COL9A3 (P33S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1352708	NM_001853.4(COL9A3):c.98C>A (p.Pro33His)	COL9A3 (P33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136477	NM_001853.4(COL9A3):c.99C>A (p.Pro33=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346745	NM_001853.4(COL9A3):c.101C>G (p.Pro34Arg)	COL9A3 (P34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550203	NM_001853.4(COL9A3):c.102C>T (p.Pro34=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462627	NM_001853.4(COL9A3):c.107_116del (p.Pro36fs)	COL9A3 (P36fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1440462	NM_001853.4(COL9A3):c.103G>A (p.Gly35Ser)	COL9A3 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686596	NM_001853.4(COL9A3):c.104G>A (p.Gly35Asp)	COL9A3 (G35D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2880706	NM_001853.4(COL9A3):c.105C>T (p.Gly35=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608363	NM_001853.4(COL9A3):c.105C>A (p.Gly35=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574274	NM_001853.4(COL9A3):c.109C>A (p.Pro37Thr)	COL9A3 (P37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196974	NM_001853.4(COL9A3):c.109C>T (p.Pro37Ser)	COL9A3 (P37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283360	NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)	COL9A3 (P37L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1604038	NM_001853.4(COL9A3):c.111A>G (p.Pro37=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 290023	NM_001853.4(COL9A3):c.113G>C (p.Gly38Ala)	COL9A3 (G38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614269	NM_001853.4(COL9A3):c.114G>A (p.Gly38=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049430	NM_001853.4(COL9A3):c.116C>G (p.Pro39Arg)	COL9A3 (P39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609940	NM_001853.4(COL9A3):c.117G>T (p.Pro39=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421660	NM_001853.4(COL9A3):c.118C>T (p.Pro40Ser)	COL9A3 (P40S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369148	NM_001853.4(COL9A3):c.122G>A (p.Gly41Glu)	COL9A3 (G41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173864	NM_001853.4(COL9A3):c.122G>C (p.Gly41Ala)	COL9A3 (G41A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975603	NM_001853.4(COL9A3):c.125A>G (p.Lys42Arg)	COL9A3 (K42R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304642	NM_001853.4(COL9A3):c.125A>T (p.Lys42Met)	COL9A3 (K42M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195155	NM_001853.4(COL9A3):c.129C>T (p.Pro43=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

<< First< Prev

Page of 13