ClinVar for Gene (Select 1305) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147187	NM_001368882.1(COL13A1):c.898A>G (p.Ile300Val)	COL13A1 (I100V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147186	NM_001368882.1(COL13A1):c.685-1207A>G	COL13A1 (M225V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147185	NM_001368882.1(COL13A1):c.682C>T (p.Arg228Trp)	COL13A1 (R198W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147184	NM_001368882.1(COL13A1):c.671A>G (p.Glu224Gly)	COL13A1 (E177G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147182	NM_001368882.1(COL13A1):c.422T>A (p.Met141Lys)	COL13A1 (M141K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147181	NM_001368882.1(COL13A1):c.252G>A (p.Met84Ile)	COL13A1 (M84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147180	NM_001368882.1(COL13A1):c.1438C>T (p.Pro480Ser)	COL13A1 (P418S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147179	NM_001368882.1(COL13A1):c.1406G>A (p.Arg469Gln)	COL13A1 (R248Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147178	NM_001368882.1(COL13A1):c.1207C>A (p.Leu403Ile)	COL13A1 (L182I +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147177	NM_001368882.1(COL13A1):c.1153G>A (p.Gly385Ser)	COL13A1 (G352S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065133	NM_001368882.1(COL13A1):c.462+1G>T	COL13A1	Single nucleotide variant (splice donor variant +1 more)	Congenital myasthenic syndrome 19	GUncertain significance
Select item 3058234	NM_001368882.1(COL13A1):c.66G>A (p.Ala22=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related condition	GLikely benign
Select item 3053229	NM_001368882.1(COL13A1):c.1914+10A>G	COL13A1	Single nucleotide variant (intron variant)	COL13A1-related condition	GLikely benign
Select item 3053066	NM_001368882.1(COL13A1):c.1221A>C (p.Pro407=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related condition	GLikely benign
Select item 3034514	NM_001368882.1(COL13A1):c.540T>C (p.Pro180=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related condition	GLikely benign
Select item 3032604	NM_001368882.1(COL13A1):c.1921C>T (p.Pro641Ser)	COL13A1 (P393S +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3026789	NM_001368882.1(COL13A1):c.685-1192C>T	COL13A1 (R201C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3023208	NM_001368882.1(COL13A1):c.657+16G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012105	NM_001368882.1(COL13A1):c.1481A>G (p.Gln494Arg)	COL13A1 (Q464R +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006824	NM_001368882.1(COL13A1):c.2058+16T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006700	NM_001368882.1(COL13A1):c.1683+13G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000946	NM_001368882.1(COL13A1):c.1764A>G (p.Gly588=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000482	NM_001368882.1(COL13A1):c.1729-18C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999939	NM_001368882.1(COL13A1):c.400-18T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999527	NM_001368882.1(COL13A1):c.1221A>G (p.Pro407=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998194	NM_001368882.1(COL13A1):c.514-5_514-4del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 2996693	NM_001368882.1(COL13A1):c.2061G>C (p.Gly687=)	COL13A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2992725	NM_001368882.1(COL13A1):c.886-4C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991942	NM_001368882.1(COL13A1):c.2146-17T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989281	NM_001368882.1(COL13A1):c.1329+18C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988900	NM_001368882.1(COL13A1):c.1329+13C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988784	NM_001368882.1(COL13A1):c.780T>C (p.Gly260=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988334	NM_001368882.1(COL13A1):c.399+12T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985587	NM_001368882.1(COL13A1):c.1878+20C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985338	NM_001368882.1(COL13A1):c.514-15T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984873	NM_001368882.1(COL13A1):c.1878+10T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984003	NM_001368882.1(COL13A1):c.294+17G>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983625	NM_001368882.1(COL13A1):c.463-19C>G	COL13A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2981993	NM_001368882.1(COL13A1):c.1146A>T (p.Gly382=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981863	NM_001368882.1(COL13A1):c.1968+15G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980567	NM_001368882.1(COL13A1):c.2022+11T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978728	NM_001368882.1(COL13A1):c.603+9C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976719	NM_001368882.1(COL13A1):c.1287G>A (p.Gly429=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976640	NM_001368882.1(COL13A1):c.885+8T>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976260	NM_001368882.1(COL13A1):c.1144-19C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974157	NM_001368882.1(COL13A1):c.2184+7C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974110	NM_001368882.1(COL13A1):c.463-18C>T	COL13A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2971268	NM_001368882.1(COL13A1):c.1879-11C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968209	NM_001368882.1(COL13A1):c.1755G>A (p.Gly585=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967564	NM_001368882.1(COL13A1):c.750+20C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966264	NM_001368882.1(COL13A1):c.400-17G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966047	NM_001368882.1(COL13A1):c.2185-15G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965874	NM_001368882.1(COL13A1):c.365-15C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963759	NM_001368882.1(COL13A1):c.372+16G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962567	NM_001368882.1(COL13A1):c.576+12C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961975	NM_001368882.1(COL13A1):c.1404C>T (p.Ile468=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961097	NM_001368882.1(COL13A1):c.751-12C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959142	NM_001368882.1(COL13A1):c.180C>A (p.Leu60=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957915	NM_001368882.1(COL13A1):c.1254G>A (p.Gln418=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906674	NM_001368882.1(COL13A1):c.1398+9G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900729	NM_001368882.1(COL13A1):c.798C>G (p.Gly266=)	COL13A1	Single nucleotide variant (synonymous variant)	COL13A1-related condition +1 more	GLikely benign
Select item 2900269	NM_001368882.1(COL13A1):c.400-5A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899505	NM_001368882.1(COL13A1):c.514-7T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898475	NM_001368882.1(COL13A1):c.685-1226C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897239	NM_001368882.1(COL13A1):c.1761C>T (p.Pro587=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896937	NM_001368882.1(COL13A1):c.2022+7C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896610	NM_001368882.1(COL13A1):c.1485+10A>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895874	NM_001368882.1(COL13A1):c.76del (p.Val26fs)	COL13A1 (V26fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2895061	NM_001368882.1(COL13A1):c.2031T>C (p.His677=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892416	NM_001368882.1(COL13A1):c.1800G>A (p.Gly600=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891129	NM_001368882.1(COL13A1):c.132G>C (p.Ser44=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878340	NM_001368882.1(COL13A1):c.2146-8C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877634	NM_001368882.1(COL13A1):c.957T>C (p.His319=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874399	NM_001368882.1(COL13A1):c.12G>A (p.Glu4=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873790	NM_001368882.1(COL13A1):c.365-20A>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871365	NM_001368882.1(COL13A1):c.1561C>T (p.Pro521Ser)	COL13A1 (P459S +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869541	NM_001368882.1(COL13A1):c.2146-11T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868635	NM_001368882.1(COL13A1):c.1470G>A (p.Gly490=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868488	NM_001368882.1(COL13A1):c.1914+11C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867168	NM_001368882.1(COL13A1):c.630+19T>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858067	NM_001368882.1(COL13A1):c.550-14C>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843596	NM_001368882.1(COL13A1):c.720A>T (p.Pro240=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2840979	NM_001368882.1(COL13A1):c.1776C>G (p.Leu592=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838699	NM_001368882.1(COL13A1):c.885+14T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832664	NM_001368882.1(COL13A1):c.2023-15T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831680	NM_001368882.1(COL13A1):c.967-16T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821165	NM_001368882.1(COL13A1):c.2062G>T (p.Glu688Ter)	COL13A1 (E605* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2820341	NM_001368882.1(COL13A1):c.1798-1G>T	COL13A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2812064	NM_001368882.1(COL13A1):c.399+8A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806697	NM_001368882.1(COL13A1):c.1284+11C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805635	NM_001368882.1(COL13A1):c.2022+12G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802665	NM_001368882.1(COL13A1):c.2058+12C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801621	NM_001368882.1(COL13A1):c.969G>A (p.Gly323=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800397	NM_001368882.1(COL13A1):c.2154T>C (p.Asp718=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800296	NM_001368882.1(COL13A1):c.999+7G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789702	NM_001368882.1(COL13A1):c.1023C>A (p.Thr341=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789002	NM_001368882.1(COL13A1):c.859-12T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787603	NM_001368882.1(COL13A1):c.372+10C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785099	NM_001368882.1(COL13A1):c.1729-20G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780891	NM_001368882.1(COL13A1):c.657+1G>A	COL13A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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