ClinVar for Gene (Select 1299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3147840	NM_001853.4(COL9A3):c.830G>A (p.Gly277Asp)	COL9A3 (G277D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147838	NM_001853.4(COL9A3):c.395C>A (p.Pro132Gln)	COL9A3 (P132Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147837	NM_001853.4(COL9A3):c.1310C>G (p.Pro437Arg)	COL9A3 (P437R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147836	NM_001853.4(COL9A3):c.1153G>T (p.Gly385Cys)	COL9A3 (G385C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068975	NM_001853.4(COL9A3):c.423+11G>A	COL9A3	Single nucleotide variant (intron variant)	not specified	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 3062402	GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1	ARFGAP1, BHLHE23 +15 more	Copy number loss	not specified	GPathogenic
Select item 3061663	NM_001853.4(COL9A3):c.424-10C>T	COL9A3	Single nucleotide variant (intron variant)	COL9A3-related disorder	GLikely benign
Select item 3031298	NM_001853.4(COL9A3):c.799C>T (p.Arg267Ter)	COL9A3 (R267*)	Single nucleotide variant (nonsense)	COL9A3-related disorder	GLikely pathogenic
Select item 3022470	NM_001853.4(COL9A3):c.1281C>T (p.Gly427=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021919	NM_001853.4(COL9A3):c.736C>G (p.Arg246Gly)	COL9A3 (R246G)	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 3020673	NM_001853.4(COL9A3):c.954+8T>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020218	NM_001853.4(COL9A3):c.1772_1786+7dup	COL9A3	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3018258	NM_001853.4(COL9A3):c.1215+20G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017749	NM_001853.4(COL9A3):c.1161+19_1161+35dup	COL9A3	Duplication (intron variant)	not provided	GLikely benign
Select item 3016521	NM_001853.4(COL9A3):c.711A>G (p.Pro237=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015700	NM_001853.4(COL9A3):c.309+10T>G	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015273	NM_001853.4(COL9A3):c.1917C>T (p.Gly639=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015118	NM_001853.4(COL9A3):c.1548+12T>C	COL9A3, LOC126863084	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014489	NM_001853.4(COL9A3):c.1141G>T (p.Ala381Ser)	COL9A3 (A381S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013876	NM_001853.4(COL9A3):c.1828G>A (p.Gly610Arg)	COL9A3 (G610R)	Single nucleotide variant (missense variant)	not provided +1 more	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 3013241	NM_001853.4(COL9A3):c.1610T>C (p.Ile537Thr)	COL9A3 (I537T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012851	NM_001853.4(COL9A3):c.1485C>G (p.Pro495=)	COL9A3, LOC126863084	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012821	NM_001853.4(COL9A3):c.259C>T (p.Leu87=)	COL9A3	Single nucleotide variant (synonymous variant)	COL9A3-related disorder +1 more	GLikely benign
Select item 3012735	NM_001853.4(COL9A3):c.345+17G>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009946	NM_001853.4(COL9A3):c.1267C>T (p.Arg423Ter)	COL9A3 (R423*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3009272	NM_001853.4(COL9A3):c.713G>C (p.Gly238Ala)	COL9A3 (G238A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007733	NM_001853.4(COL9A3):c.1546C>T (p.Pro516Ser)	LOC126863084, COL9A3 (P516S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006819	NM_001853.4(COL9A3):c.1986C>G (p.Cys662Trp)	COL9A3 (C662W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006182	NM_001853.4(COL9A3):c.1009-19G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004790	NM_001853.4(COL9A3):c.1657A>G (p.Ile553Val)	COL9A3 (I553V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004311	NM_001853.4(COL9A3):c.417C>T (p.Gly139=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004255	NM_001853.4(COL9A3):c.248G>C (p.Gly83Ala)	COL9A3 (G83A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003230	NM_001853.4(COL9A3):c.684+16G>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002531	NM_001853.4(COL9A3):c.954+19G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000337	NM_001853.4(COL9A3):c.1323+16G>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999322	NM_001853.4(COL9A3):c.1853A>G (p.Gln618Arg)	COL9A3 (Q618R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999086	NM_001853.4(COL9A3):c.1971G>T (p.Gly657=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996303	NM_001853.4(COL9A3):c.1604-15C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996210	NM_001853.4(COL9A3):c.622G>A (p.Gly208Ser)	COL9A3 (G208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995654	NM_001853.4(COL9A3):c.1054-1G>A	COL9A3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2992810	NM_001853.4(COL9A3):c.1732_1734del (p.Gly578del)	COL9A3 (G578del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2991973	NM_001853.4(COL9A3):c.962C>T (p.Ala321Val)	COL9A3 (A321V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990448	NM_001853.4(COL9A3):c.943G>C (p.Asp315His)	COL9A3 (D315H)	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 2989127	NM_001853.4(COL9A3):c.396_422del (p.Gly134_Gly142del)	COL9A3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2989003	NM_001853.4(COL9A3):c.577-7C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988175	NM_001853.4(COL9A3):c.184-12C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987898	NM_001853.4(COL9A3):c.1944G>A (p.Gly648=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986889	NM_001853.4(COL9A3):c.1412G>T (p.Arg471Leu)	COL9A3, LOC126863084 (R471L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986785	NM_001853.4(COL9A3):c.1369-3C>T	COL9A3, LOC126863084	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986440	NM_001853.4(COL9A3):c.1888_1896dup (p.Asp632_Gly633insSerLysAsp)	COL9A3	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2985006	NM_001853.4(COL9A3):c.900+10C>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984776	NM_001853.4(COL9A3):c.1727C>T (p.Ala576Val)	COL9A3 (A576V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984603	NM_001853.4(COL9A3):c.955-13T>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984595	NM_001853.4(COL9A3):c.1787-18_1787-17del	COL9A3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2984588	NM_001853.4(COL9A3):c.1340A>T (p.Asp447Val)	COL9A3 (D447V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983991	NM_001853.4(COL9A3):c.792+7G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983635	NM_001853.4(COL9A3):c.361G>A (p.Gly121Arg)	COL9A3 (G121R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983451	NM_001853.4(COL9A3):c.158G>A (p.Gly53Asp)	COL9A3 (G53D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981723	NM_001853.4(COL9A3):c.1416G>C (p.Gly472=)	COL9A3, LOC126863084	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977607	NM_001853.4(COL9A3):c.654C>T (p.Pro218=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977598	NM_001853.4(COL9A3):c.256-18C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975764	NM_001853.4(COL9A3):c.1677T>C (p.Ala559=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974821	NM_001853.4(COL9A3):c.754C>T (p.Arg252Ter)	COL9A3 (R252*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2972416	NM_001853.4(COL9A3):c.310-10C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970531	NM_001853.4(COL9A3):c.435A>G (p.Gly145=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970350	NM_001853.4(COL9A3):c.687C>T (p.Gly229=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970075	NM_001853.4(COL9A3):c.411C>T (p.Leu137=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966679	NM_001853.4(COL9A3):c.1917C>A (p.Gly639=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966197	NM_001853.4(COL9A3):c.1288-17C>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966078	NM_001853.4(COL9A3):c.739-16C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965960	NM_001853.4(COL9A3):c.1709C>T (p.Ser570Phe)	COL9A3 (S570F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965659	NM_001853.4(COL9A3):c.684+15G>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2963796	NM_001853.4(COL9A3):c.1701C>T (p.Pro567=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962976	NM_001853.4(COL9A3):c.315T>G (p.Ser105Arg)	COL9A3 (S105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960889	NM_001853.4(COL9A3):c.1596G>A (p.Met532Ile)	COL9A3, LOC126863084 (M532I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958288	NM_001853.4(COL9A3):c.1787-13C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955526	NM_001853.4(COL9A3):c.1134C>A (p.Arg378=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2955127	NM_001853.4(COL9A3):c.1008+16G>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955015	NM_001853.4(COL9A3):c.1770A>G (p.Gly590=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954796	NM_001853.4(COL9A3):c.649G>C (p.Gly217Arg)	COL9A3 (G217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920288	NM_001853.4(COL9A3):c.1386C>T (p.Val462=)	COL9A3, LOC126863084	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919796	NM_001853.4(COL9A3):c.1052G>A (p.Arg351Gln)	COL9A3 (R351Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916155	NM_001853.4(COL9A3):c.1803A>G (p.Arg601=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910751	NM_001853.4(COL9A3):c.454C>T (p.Pro152Ser)	COL9A3 (P152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907925	NM_001853.4(COL9A3):c.147+7T>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907305	NM_001853.4(COL9A3):c.1604-17C>A	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901833	NM_001853.4(COL9A3):c.1627C>T (p.His543Tyr)	COL9A3 (H543Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892885	NM_001853.4(COL9A3):c.1324-10T>C	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891808	NM_001853.4(COL9A3):c.223G>C (p.Glu75Gln)	COL9A3 (E75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890769	NM_001853.4(COL9A3):c.1288-6A>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888050	NM_001853.4(COL9A3):c.1872A>T (p.Gln624His)	COL9A3 (Q624H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881976	NM_001853.4(COL9A3):c.577-13C>T	COL9A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880732	NM_001853.4(COL9A3):c.396A>C (p.Pro132=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880706	NM_001853.4(COL9A3):c.105C>T (p.Gly35=)	COL9A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874122	NM_001853.4(COL9A3):c.1994C>A (p.Ser665Ter)	COL9A3 (S665*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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