1303[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1289475	NM_004370.6(COL12A1):c.*210T>G	COL12A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1204035	NM_004370.6(COL12A1):c.*16G>T	COL12A1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1318548	NM_004370.6(COL12A1):c.*6T>C	COL12A1	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 566830	NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)	COL12A1 (G3063S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1101365	NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2165579	NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)	COL12A1 (S1898F +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2080078	NM_004370.6(COL12A1):c.9182-11A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1568765	NM_004370.6(COL12A1):c.9182-19C>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1264862	NM_004370.6(COL12A1):c.9182-115TA[13]	COL12A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228153	NM_004370.6(COL12A1):c.9182-115TA[14]	COL12A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1211533	NM_004370.6(COL12A1):c.9182-115TA[15]	COL12A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1252836	NM_004370.6(COL12A1):c.9182-115TA[11]	COL12A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1262030	NM_004370.6(COL12A1):c.9182-201C>A	COL12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262224	NM_004370.6(COL12A1):c.9181+295del	COL12A1	Deletion (intron variant)	not provided	GBenign
Select item 2929460	NM_004370.6(COL12A1):c.9181+20G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2198369	NM_004370.6(COL12A1):c.9181+18T>C	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2032556	NM_004370.6(COL12A1):c.9181+16T>C	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2930950	NM_004370.6(COL12A1):c.9181+11G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1723835	NM_004370.6(COL12A1):c.9181+5G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2952922	NM_004370.6(COL12A1):c.9181+4C>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2156736	NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)	COL12A1 (P1896S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2938675	NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)	COL12A1 (Y1895C +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1315694	NM_004370.6(COL12A1):c.9172_9173delinsAA (p.Gly3058Asn)	COL12A1 (G1894N +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 259358	NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)	COL12A1 (G3058S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2017423	NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)	COL12A1 (Q1893* +1 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 2 +1 more	GBenign
Select item 2929293	NM_004370.6(COL12A1):c.9168G>A (p.Gly3056=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2504938	NM_004370.6(COL12A1):c.9166G>A (p.Gly3056Arg)	COL12A1 (G1892R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707277	NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 259357	NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1986716	NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)	COL12A1 (A3050D +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 572743	NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr)	COL12A1 (C3049Y +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +1 more	GUncertain significance
Select item 969933	NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)	COL12A1 (Q1884H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 2055857	NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)	COL12A1 (Q1884P +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 430380	NM_004370.6(COL12A1):c.9142C>T (p.Gln3048Ter)	COL12A1 (Q3048* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 426769	NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val)	COL12A1 (D3045V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1397437	NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly)	COL12A1 (C3044G +1 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 2 +1 more	GUncertain significance
Select item 1400449	NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu)	COL12A1 (P1877L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1938081	NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)	COL12A1 (P3040L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1720763	NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)	COL12A1 (G1875S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 689549	NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)	COL12A1 (G1875fs +1 more)	Duplication (frameshift variant)	Abnormality of connective tissue	GLikely pathogenic
Select item 655423	NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)	COL12A1 (P3037L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +3 more	GUncertain significance
Select item 3025581	NM_004370.6(COL12A1):c.9109C>A (p.Pro3037Thr)	COL12A1 (P1873T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721994	NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)	COL12A1 (P1873S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 2064976	NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 475909	NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2922298	NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)	COL12A1 (G3036E +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1204084	NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)	COL12A1 (R1871Q +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 3377131	NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)	COL12A1 (R1871* +3 more)	Single nucleotide variant (nonsense)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely pathogenic
Select item 2930399	NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)	COL12A1 (N1867S +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 751898	NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2931030	NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)	COL12A1	Microsatellite (inframe_insertion)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 259356	NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	COL12A1 (R3028H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +4 more	GConflicting classifications of pathogenicity
Select item 1320338	NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys)	COL12A1 (R1864C +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 2934187	NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GBenign
Select item 1521594	NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)	COL12A1 (G1863fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 2934079	NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)	COL12A1 (P1862fs +3 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 861528	NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)	COL12A1 (P1862L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1040652	NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser)	COL12A1 (P3026S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 580957	NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)	COL12A1 (P3026A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2148969	NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)	COL12A1 (P3025H +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1505241	NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser)	COL12A1 (P1861S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1540715	NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1091030	NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2934423	NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)	COL12A1 (G1860D +3 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1492488	NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)	COL12A1 (P1858S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 998576	NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro)	COL12A1 (S1855P +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1701893	NM_004370.6(COL12A1):c.9053G>A (p.Gly3018Asp)	COL12A1 (G1854D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1007281	NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile)	COL12A1 (T1853I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 739813	NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 971330	NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)	COL12A1 (P3014L +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2018981	NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1318519	NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)	COL12A1 (P1849L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 858523	NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)	COL12A1 (T1847I +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1690610	NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu)	COL12A1 (P1841L +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 2930119	NM_004370.6(COL12A1):c.9011-8C>T	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 2416958	NM_004370.6(COL12A1):c.9011-20_9011-19del	COL12A1	Deletion (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1566671	NM_004370.6(COL12A1):c.9011-20T>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1196139	NM_004370.6(COL12A1):c.9011-86T>C	COL12A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232801	NM_004370.6(COL12A1):c.9010+233G>A	COL12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233234	NM_004370.6(COL12A1):c.9010+100G>T	COL12A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2926357	NM_004370.6(COL12A1):c.9010+15A>G	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GBenign
Select item 2580558	NM_004370.6(COL12A1):c.9010+6T>G	COL12A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1959814	NM_004370.6(COL12A1):c.9010+5G>A	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1389960	NM_004370.6(COL12A1):c.9010+4G>C	COL12A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1708979	NM_004370.6(COL12A1):c.9010+2T>C	COL12A1	Single nucleotide variant (splice donor variant)	Bethlem myopathy 2	GUncertain significance
Select item 475908	NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +2 more	GLikely benign
Select item 1878716	NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)	COL12A1 (P1838S +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GUncertain significance
Select item 1651935	NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1661050	NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 1108673	NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 763434	NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=)	COL12A1	Single nucleotide variant (synonymous variant)	Ullrich congenital muscular dystrophy 2 +1 more	GLikely benign
Select item 955982	NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)	COL12A1 (R1833Q +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 929449	NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)	COL12A1 (R1833W +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 259355	NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)	COL12A1 (S2994P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 542509	NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)	COL12A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2082737	NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)	COL12A1 (E1821G +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 852469	NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)	COL12A1 (E2985K +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 1012085	NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe)	COL12A1 (L1818F +1 more)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance

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