All variants in the LIG4 gene

Information The variants shown are described using the NM_002312.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.8C>T r.(?) p.(Ala3Val) - benign g.108863609G>A g.108211261G>A LIG4(NM_002312.3):c.8C>T (p.A3V) - LIG4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.8C>T r.(?) p.(Ala3Val) - likely benign g.108863609G>A g.108211261G>A LIG4(NM_002312.3):c.8C>T (p.A3V) - LIG4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.26C>T r.(?) p.(Thr9Ile) - benign g.108863591G>A g.108211243G>A LIG4(NM_002312.3):c.26C>T (p.T9I) - LIG4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.26C>T r.(?) p.(Thr9Ile) - likely benign g.108863591G>A g.108211243G>A LIG4(NM_002312.3):c.26C>T (p.T9I) - LIG4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.144_150del r.(?) p.(Phe49Metfs*18) - VUS g.108863467_108863473del g.108211119_108211125del - - LIG4_000041 - Liu submitted, 2021 - - Germline - - - 0 - Liu Wenbing
?/. - c.152_153del r.(?) p.(Asp51Glyfs*4) - VUS g.108863464_108863465del g.108211116_108211117del - - LIG4_000040 - Liu submitted, 2021 - - Germline - - - 0 - Liu Wenbing
-?/. - c.285G>A r.(?) p.(Glu95=) - likely benign g.108863332C>T - LIG4(NM_001098268.1):c.285G>A (p.(=)) - LIG4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.381G>C r.(?) p.(Met127Ile) - likely benign g.108863236C>G - LIG4(NM_001352599.1):c.381G>C (p.M127I) - LIG4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 c.613del r.(?) p.(Ser205Leufs*29) - pathogenic g.108863007del g.108210659del - - LIG4_000001 - PubMed: IJspeert 2013 - - Germline - - - 0 - Mirjam van der Burg
+/? 2 c.613del r.(?) p.(Ser205Leufs*29) - pathogenic g.108863007del g.108210659del - - LIG4_000001 - PubMed: IJspeert 2013 - - Germline - - - 0 - Jennie Murray
+/. - c.613del r.(?) p.(Ser205LeufsTer29) - pathogenic g.108863007del g.108210659del LIG4(NM_001352599.2):c.613delT (p.S205Lfs*29) - LIG4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.712A>G r.(?) p.(Ile238Val) - likely benign g.108862905T>C - LIG4(NM_001352599.1):c.712A>G (p.I238V) - LIG4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.787A>G r.(?) p.(Met263Val) - VUS g.108862830T>C g.108210482T>C LIG4(NM_002312.3):c.787A>G (p.M263V) - LIG4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.833G>A r.(?) p.(Arg278His) - pathogenic g.108862784C>T g.108210436C>T LIG4(NM_001352599.1):c.833G>A (p.R278H) - LIG4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.854G>T r.(?) p.(Gly285Val) - VUS g.108862763C>A - - - LIG4_000043 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.898G>A r.(?) p.(Asp300Asn) - likely benign g.108862719C>T g.108210371C>T LIG4(NM_001352599.2):c.898G>A (p.D300N) - LIG4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.915T>C r.(?) p.(Ser305=) - benign g.108862702A>G g.108210354A>G LIG4(NM_002312.3):c.915T>C (p.S305=) - LIG4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1193G>A r.(?) p.(Gly398Asp) - likely benign g.108862424C>T g.108210076C>T LIG4(NM_001098268.1):c.1193G>A (p.(Gly398Asp)) - LIG4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 c.1246_1250dup r.(?) p.(Leu418Metfs*3) - pathogenic g.108862367_108862371dup g.108210019_108210023dup 1246_1250dupGATGC - LIG4_000008 - - - - Unknown - - - 0 - Jennie Murray
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20) - pathogenic g.108862343_108862347del g.108209995_108209999del 1271_1275delAAAGA - LIG4_000004 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20) - pathogenic g.108862343_108862347del g.108209995_108209999del 1271_1275delAAAGA - LIG4_000004 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20) - pathogenic g.108862343_108862347del g.108209995_108209999del 1271_1275delAAAGA - LIG4_000004 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20) - pathogenic g.108862343_108862347del g.108209995_108209999del 1271_1275delAAAGA - LIG4_000004 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.1271_1275del r.(?) p.(Lys424Argfs*20) - pathogenic g.108862343_108862347del g.108209995_108209999del 1271_1275delAAAGA - LIG4_000004 - - - - Germline - - - 0 - Jennie Murray
?/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20) - VUS g.108862343_108862347del g.108209995_108209999del LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12... - LIG4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20) - pathogenic g.108862343_108862347del - LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12... - LIG4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1271_1275del r.(?) p.(Lys424Argfs*20) - VUS g.108862343_108862347del g.108209995_108209999del - - LIG4_000004 - Liu submitted, 2021 - - Germline - - - 0 - Liu Wenbing
+/. - c.1271_1275del r.(?) p.(Lys424ArgfsTer20) - pathogenic g.108862343_108862347del - LIG4(NM_001098268.1):c.1271_1275del (p.(Lys424ArgfsTer20)), LIG4(NM_001352599.1):c.1271_1275delAAAGA (p.K424Rfs*20), LIG4(NM_001352599.2):c.1271_12... - LIG4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1298_1300del r.(?) p.(Gln433del) - pathogenic g.108862320_108862322del g.108209972_108209974del LIG4(NM_002312.3):c.1298_1300delAAC (p.Q433del) - LIG4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1426C>T r.(?) p.(Arg476Trp) - VUS g.108862191G>A - - - LIG4_000042 - Liu submitted, 2021 - - Germline - - - - - Liu Wenbing
+/? 2 c.1512_1513del r.(?) p.(Arg505Cysfs*12) - pathogenic g.108862111_108862112del g.108209763_108209764del 1512_1513delTC - LIG4_000007 - - - - Unknown - - - 0 - Jennie Murray
+/. - c.1512_1513del r.(?) p.(Arg505CysfsTer12) - pathogenic g.108862111_108862112del g.108209763_108209764del LIG4(NM_002312.3):c.1512_1513delTC (p.R505Cfs*12) - LIG4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1538A>G r.(?) p.(Lys513Arg) - VUS g.108862079T>C g.108209731T>C LIG4(NM_002312.3):c.1538A>G (p.K513R) - LIG4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1704T>C r.(?) p.(Asp568=) - benign g.108861913A>G g.108209565A>G LIG4(NM_002312.3):c.1704T>C (p.D568=) - LIG4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1730G>A r.(?) p.(Arg577His) - VUS g.108861887C>T g.108209539C>T LIG4(NM_001098268.1):c.1730G>A (p.(Arg577His)) - LIG4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1798G>A r.(?) p.(Glu600Lys) - likely benign g.108861819C>T g.108209471C>T LIG4(NM_002312.3):c.1798G>A (p.E600K) - LIG4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1831G>A r.(?) p.(Ala611Thr) - likely benign g.108861786C>T g.108209438C>T LIG4(NM_001098268.1):c.1831G>A (p.(Ala611Thr)) - LIG4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 c.1904del r.(?) p.(Lys635Argfs*10) - pathogenic g.108861714del g.108209366del - - LIG4_000002 - PubMed: IJspeert 2013 - - Germline - - - 0 - Mirjam van der Burg
+/? 2 c.1904del r.(?) p.(Lys635Argfs*10) - pathogenic g.108861714del g.108209366del - - LIG4_000002 - PubMed: IJspeert 2013 - - Germline - - - 0 - Jennie Murray
-?/. - c.1954G>A r.(?) p.(Val652Ile) - likely benign g.108861663C>T g.108209315C>T LIG4(NM_001352599.2):c.1954G>A (p.V652I), LIG4(NM_002312.3):c.1954G>A (p.V652I) - LIG4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1954G>A r.(?) p.(Val652Ile) - likely benign g.108861663C>T - LIG4(NM_001352599.2):c.1954G>A (p.V652I), LIG4(NM_002312.3):c.1954G>A (p.V652I) - LIG4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1955T>G r.(?) p.(Val652Gly) - VUS g.108861662A>C g.108209314A>C LIG4(NM_002312.3):c.1955T>G (p.V652G) - LIG4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1983T>C r.(?) p.(Asp661=) - likely benign g.108861634A>G g.108209286A>G LIG4(NM_001352599.1):c.1983T>C (p.D661=) - LIG4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 c.2094C>G r.(?) p.(Tyr698*) - pathogenic g.108861523G>C g.108209175G>C - - LIG4_000005 - - - - Germline - - - 0 - Jennie Murray
-?/. - c.2266C>A r.(?) p.(Arg756Ser) - likely benign g.108861351G>T g.108209003G>T LIG4(NM_001352599.2):c.2266C>A (p.R756S) - LIG4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2266C>T r.(?) p.(Arg756Cys) - likely benign g.108861351G>A g.108209003G>A LIG4(NM_002312.3):c.2266C>T (p.R756C) - LIG4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2269G>A r.(?) p.(Glu757Lys) - VUS g.108861348C>T g.108209000C>T - - LIG4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2281T>C r.(?) p.(Tyr761His) - likely benign g.108861336A>G g.108208988A>G LIG4(NM_002312.3):c.2281T>C (p.Y761H) - LIG4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2321T>C r.(?) p.(Leu774Pro) - pathogenic g.108861296A>G g.108208948A>G - - LIG4_000010 - PubMed: Murray 2015, Journal: Murray 2015 - - Germline - - - 0 - Johan den Dunnen
+/? 2 c.2386_2389dup r.(?) p.(Ala797Aspfs*3) - pathogenic g.108861230_108861233dup g.108208882_108208885dup 2386_2389dupATTG - LIG4_000006 - - - - Germline - - - 0 - Jennie Murray
+/. 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A Arg814* - LIG4_000003 - PubMed: Murray 2015, Journal: Murray 2015 - - Germline - - - 0 - Johan den Dunnen
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Unknown - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Unknown - - - 0 - Jennie Murray
+/? 2 c.2440C>T r.(?) p.(Arg814*) - pathogenic g.108861177G>A g.108208829G>A - - LIG4_000003 - - - - Germline - - - 0 - Jennie Murray
?/. - c.2525C>A r.(?) p.(Ala842Asp) - VUS g.108861092G>T g.108208744G>T LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D) - LIG4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2525C>A r.(?) p.(Ala842Asp) - likely benign g.108861092G>T g.108208744G>T LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D) - LIG4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2525C>A r.(?) p.(Ala842Asp) - VUS g.108861092G>T - LIG4(NM_001098268.1):c.2525C>A (p.(Ala842Asp)), LIG4(NM_002312.3):c.2525C>A (p.A842D) - LIG4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2569G>A r.(?) p.(Ala857Thr) - benign g.108861048C>T g.108208700C>T LIG4(NM_002312.3):c.2569G>A (p.A857T) - LIG4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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