COL13A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	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 729637	NM_001368882.1(COL13A1):c.6A>G (p.Val2=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1353832	NM_001368882.1(COL13A1):c.7G>A (p.Ala3Thr)	COL13A1 (A3T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1507979	NM_001368882.1(COL13A1):c.13C>T (p.Arg5Cys)	COL13A1 (R5C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722791	NM_001368882.1(COL13A1):c.24A>G (p.Lys8=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 799523	NM_001368882.1(COL13A1):c.27G>A (p.Ala9=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1347947	NM_001368882.1(COL13A1):c.29C>T (p.Ala10Val)	COL13A1 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982643	NM_001368882.1(COL13A1):c.35C>G (p.Thr12Ser)	COL13A1 (T12S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444676	NM_001368882.1(COL13A1):c.55_62del (p.Glu19fs)	COL13A1 (E19fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1463841	NM_001368882.1(COL13A1):c.52_53delinsAA (p.Gly18Lys)	COL13A1 (G18K)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 3058234	NM_001368882.1(COL13A1):c.66G>A (p.Ala22=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	COL13A1-related disorder	GLikely benign
Select item 1953533	NM_001368882.1(COL13A1):c.66G>T (p.Ala22=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709699	NM_001368882.1(COL13A1):c.67C>A (p.Pro23Thr)	COL13A1 (P23T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2092037	NM_001368882.1(COL13A1):c.69C>G (p.Pro23=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	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 2009951	NM_001368882.1(COL13A1):c.84G>A (p.Leu28=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617573	NM_001368882.1(COL13A1):c.90G>T (p.Ala30=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2057440	NM_001368882.1(COL13A1):c.93G>A (p.Ala31=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1479046	NM_001368882.1(COL13A1):c.102G>T (p.Glu34Asp)	COL13A1 (E34D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402194	NM_001368882.1(COL13A1):c.109G>A (p.Ala37Thr)	COL13A1 (A37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1353231	NM_001368882.1(COL13A1):c.112C>T (p.Arg38Trp)	COL13A1 (R38W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2108401	NM_001368882.1(COL13A1):c.113G>C (p.Arg38Pro)	COL13A1 (R38P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2115941	NM_001368882.1(COL13A1):c.116T>G (p.Leu39Arg)	COL13A1 (L39R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1421228	NM_001368882.1(COL13A1):c.118C>T (p.Pro40Ser)	COL13A1 (P40S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1566380	NM_001368882.1(COL13A1):c.120G>A (p.Pro40=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1636132	NM_001368882.1(COL13A1):c.126A>G (p.Pro42=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	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 1381875	NM_001368882.1(COL13A1):c.133T>A (p.Cys45Ser)	COL13A1 (C45S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2077361	NM_001368882.1(COL13A1):c.138G>T (p.Gly46=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1549565	NM_001368882.1(COL13A1):c.162G>T (p.Ser54=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2087637	NM_001368882.1(COL13A1):c.166G>A (p.Ala56Thr)	COL13A1 (A56T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 773799	NM_001368882.1(COL13A1):c.180C>T (p.Leu60=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1977934	NM_001368882.1(COL13A1):c.181G>T (p.Ala61Ser)	COL13A1 (A61S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409283	NM_001368882.1(COL13A1):c.187T>C (p.Phe63Leu)	COL13A1 (F63L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1629832	NM_001368882.1(COL13A1):c.198C>T (p.Ala66=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1496879	NM_001368882.1(COL13A1):c.221G>A (p.Arg74His)	COL13A1 (R74H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1396387	NM_001368882.1(COL13A1):c.221G>T (p.Arg74Leu)	COL13A1 (R74L)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +2 more	GUncertain significance
Select item 2112451	NM_001368882.1(COL13A1):c.230C>T (p.Ala77Val)	COL13A1 (A77V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1941974	NM_001368882.1(COL13A1):c.231G>A (p.Ala77=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 784160	NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu)	COL13A1 (R79L)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 734155	NM_001368882.1(COL13A1):c.237C>A (p.Arg79=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2181592	NM_001368882.1(COL13A1):c.238G>C (p.Gly80Arg)	COL13A1 (G80R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2093095	NM_001368882.1(COL13A1):c.257C>G (p.Thr86Arg)	COL13A1 (T86R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1217331	NM_001368882.1(COL13A1):c.258G>A (p.Thr86=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 19 +1 more	GBenign
Select item 1372570	NM_001368882.1(COL13A1):c.262A>G (p.Ile88Val)	COL13A1 (I88V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1410022	NM_001368882.1(COL13A1):c.292G>A (p.Glu98Lys)	COL13A1 (E98K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084186	NM_001368882.1(COL13A1):c.294+9T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918456	NM_001368882.1(COL13A1):c.294+15T>C	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 1229797	NM_001368882.1(COL13A1):c.294+264G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1913268	NM_001368882.1(COL13A1):c.295-18G>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657866	NM_001368882.1(COL13A1):c.295-10C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608570	NM_001368882.1(COL13A1):c.295-7T>C	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657561	NM_001368882.1(COL13A1):c.295-5T>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1424031	NM_001368882.1(COL13A1):c.298T>A (p.Trp100Arg)	COL13A1 (W100R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1984010	NM_001368882.1(COL13A1):c.303G>A (p.Lys101=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717934	NM_001368882.1(COL13A1):c.304C>T (p.Leu102Phe)	COL13A1 (L102F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1494393	NM_001368882.1(COL13A1):c.305T>G (p.Leu102Arg)	COL13A1 (L102R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903980	NM_001368882.1(COL13A1):c.317G>A (p.Arg106Lys)	COL13A1 (R106K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2185000	NM_001368882.1(COL13A1):c.320G>A (p.Arg107His)	COL13A1 (R107H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491363	NM_001368882.1(COL13A1):c.323G>A (p.Arg108Gln)	COL13A1 (R108Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1520806	NM_001368882.1(COL13A1):c.328G>A (p.Ala110Thr)	COL13A1 (A110T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1455951	NM_001368882.1(COL13A1):c.330_354del (p.Pro111fs)	COL13A1 (P111fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1910444	NM_001368882.1(COL13A1):c.354C>T (p.Asn118=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954698	NM_001368882.1(COL13A1):c.357C>T (p.Cys119=)	COL13A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 782866	NM_001368882.1(COL13A1):c.358C>T (p.Pro120Ser)	COL13A1 (P120S)	Single nucleotide variant (missense variant +1 more)	COL13A1-related disorder +1 more	GBenign
Select item 2167337	NM_001368882.1(COL13A1):c.362C>G (p.Pro121Arg)	COL13A1 (P121R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2090233	NM_001368882.1(COL13A1):c.364G>C (p.Gly122Arg)	COL13A1 (G122R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 748553	NM_001368882.1(COL13A1):c.364+4dup	COL13A1	Duplication (intron variant)	not provided	GLikely benign
Select item 724461	NM_001368882.1(COL13A1):c.364+10C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2873790	NM_001368882.1(COL13A1):c.365-20A>C	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 1551369	NM_001368882.1(COL13A1):c.365-7C>T	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 1659937	NM_001368882.1(COL13A1):c.372+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 1672880	NM_001368882.1(COL13A1):c.372+20G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1915501	NM_001368882.1(COL13A1):c.373-18C>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1639241	NM_001368882.1(COL13A1):c.373-18C>T	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535207	NM_001368882.1(COL13A1):c.373-17G>A	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930696	NM_001368882.1(COL13A1):c.373-11_373-10del	COL13A1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1634597	NM_001368882.1(COL13A1):c.373-7A>G	COL13A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922536	NM_001368882.1(COL13A1):c.381T>G (p.Thr127=)	COL13A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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