"GeneDx"[submitter] AND "COL13A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1269754	NM_001368882.1(COL13A1):c.-410G>A	COL13A1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1237469	NM_001368882.1(COL13A1):c.-86C>T	COL13A1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 784160	NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu)	COL13A1 (R79L)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 280688	NM_001368882.1(COL13A1):c.271C>T (p.Arg91Ter)	COL13A1 (R91*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1582318	NM_001368882.1(COL13A1):c.289G>T (p.Asp97Tyr)	COL13A1 (D97Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1229797	NM_001368882.1(COL13A1):c.294+264G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782866	NM_001368882.1(COL13A1):c.358C>T (p.Pro120Ser)	COL13A1 (P120S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 748553	NM_001368882.1(COL13A1):c.364+4dup	COL13A1	Duplication (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1276718	NM_001368882.1(COL13A1):c.364+177G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245398	NM_001368882.1(COL13A1):c.364+261G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224666	NM_001368882.1(COL13A1):c.364+1563C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269449	NM_001368882.1(COL13A1):c.365-297C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288222	NM_001368882.1(COL13A1):c.372+331_372+334del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1226753	NM_001368882.1(COL13A1):c.372+332_372+334del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 489155	NM_001368882.1(COL13A1):c.399+2T>C	COL13A1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1264786	NM_001368882.1(COL13A1):c.399+239G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268009	NM_001368882.1(COL13A1):c.399+252C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234536	NM_001368882.1(COL13A1):c.400-245A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189395	NM_001368882.1(COL13A1):c.435+2T>G	COL13A1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1278554	NM_001368882.1(COL13A1):c.435+50G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242307	NM_001368882.1(COL13A1):c.435+67A>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274825	NM_001368882.1(COL13A1):c.435+155G>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241026	NM_001368882.1(COL13A1):c.435+293C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278613	NM_001368882.1(COL13A1):c.463-209T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182141	NM_001368882.1(COL13A1):c.463-189del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1217332	NM_001368882.1(COL13A1):c.463-4G>A	COL13A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1251749	NM_001368882.1(COL13A1):c.513+182C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234746	NM_001368882.1(COL13A1):c.514-156C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183627	NM_001368882.1(COL13A1):c.514-43C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217334	NM_001368882.1(COL13A1):c.525A>C (p.Gly175=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1244290	NM_001368882.1(COL13A1):c.549+51G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265033	NM_001368882.1(COL13A1):c.550-282A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243364	NM_001368882.1(COL13A1):c.550-58C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229636	NM_001368882.1(COL13A1):c.576+230C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247898	NM_001368882.1(COL13A1):c.576+288G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283655	NM_001368882.1(COL13A1):c.577-305C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223125	NM_001368882.1(COL13A1):c.577-124G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274483	NM_001368882.1(COL13A1):c.603+113A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250559	NM_001368882.1(COL13A1):c.603+266T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221252	NM_001368882.1(COL13A1):c.603+271_603+273del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1237266	NM_001368882.1(COL13A1):c.603+275_603+279del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1274075	NM_001368882.1(COL13A1):c.604-302C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717621	NM_001368882.1(COL13A1):c.630+2T>C	COL13A1	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1304667	NM_001368882.1(COL13A1):c.641G>A (p.Gly214Glu)	COL13A1 (G184E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280690	NM_001368882.1(COL13A1):c.648del (p.Gly217fs)	COL13A1 (G17fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1287738	NM_001368882.1(COL13A1):c.657+145G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279447	NM_001368882.1(COL13A1):c.684+111G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241042	NM_001368882.1(COL13A1):c.685-1413G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217335	NM_001368882.1(COL13A1):c.685-1181A>G	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1288862	NM_001368882.1(COL13A1):c.685-964A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217336	NM_001368882.1(COL13A1):c.744G>A (p.Thr248=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1264464	NM_001368882.1(COL13A1):c.751-146C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228774	NM_001368882.1(COL13A1):c.858+172G>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257907	NM_001368882.1(COL13A1):c.858+232C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228088	NM_001368882.1(COL13A1):c.858+238T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255035	NM_001368882.1(COL13A1):c.859-12_859-11del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1225998	NM_001368882.1(COL13A1):c.859-11del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1175479	NM_001368882.1(COL13A1):c.886-122T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283043	NM_001368882.1(COL13A1):c.921+98G>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238125	NM_001368882.1(COL13A1):c.922-295G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283863	NM_001368882.1(COL13A1):c.966+172C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289419	NM_001368882.1(COL13A1):c.967-200A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270836	NM_001368882.1(COL13A1):c.967-44C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217337	NM_001368882.1(COL13A1):c.984C>G (p.Ala328=)	COL13A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1247360	NM_001368882.1(COL13A1):c.1026+235C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241097	NM_001368882.1(COL13A1):c.1090-108C>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262211	NM_001368882.1(COL13A1):c.1143+75A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271971	NM_001368882.1(COL13A1):c.1143+315del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1250577	NM_001368882.1(COL13A1):c.1285-189A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276239	NM_001368882.1(COL13A1):c.1330-28G>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217338	NM_001368882.1(COL13A1):c.1330-3C>T	COL13A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3372111	NM_001368882.1(COL13A1):c.1387G>A (p.Glu463Lys)	COL13A1 (E242K +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263778	NM_001368882.1(COL13A1):c.1398+233C>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280306	NM_001368882.1(COL13A1):c.1399-227T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275537	NM_001368882.1(COL13A1):c.1399-166G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242347	NM_001368882.1(COL13A1):c.1486-154T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423752	NM_001368882.1(COL13A1):c.1503dup (p.Gly502fs)	COL13A1 (G469fs +9 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1285924	NM_001368882.1(COL13A1):c.1530+12C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261099	NM_001368882.1(COL13A1):c.1530+132del	COL13A1	Deletion (intron variant)	not provided	GBenign
Select item 1252283	NM_001368882.1(COL13A1):c.1530+125G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267840	NM_001368882.1(COL13A1):c.1606G>A (p.Val536Met)	COL13A1 (V315M +9 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1260277	NM_001368882.1(COL13A1):c.1683+167C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261477	NM_001368882.1(COL13A1):c.1683+276C>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294649	NM_001368882.1(COL13A1):c.1728+123T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266324	NM_001368882.1(COL13A1):c.1728+196C>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263751	NM_001368882.1(COL13A1):c.1729-261dup	COL13A1	Duplication (intron variant)	not provided	GBenign
Select item 1229307	NM_001368882.1(COL13A1):c.1770+143T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247239	NM_001368882.1(COL13A1):c.1771-99C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240793	NM_001368882.1(COL13A1):c.1797+294C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226333	NM_001368882.1(COL13A1):c.1798-162A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277814	NM_001368882.1(COL13A1):c.1878+45G>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261407	NM_001368882.1(COL13A1):c.1878+160T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311164	NM_001368882.1(COL13A1):c.1914+3G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1665805	NM_001368882.1(COL13A1):c.1931T>C (p.Ile644Thr)	COL13A1 (I396T +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1243483	NM_001368882.1(COL13A1):c.1968+61A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221853	NM_001368882.1(COL13A1):c.1968+211C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221186	NM_001368882.1(COL13A1):c.1968+228A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285760	NM_001368882.1(COL13A1):c.1968+247T>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225836	NM_001368882.1(COL13A1):c.1968+298C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign

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