C0265308[trait identifier] AND - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6606971.	NC_000008.10:g.(?_145736804)_(145738531_?)dup GRCh37: Chr8:145736804-145738531 GRCh38: Chr8:144511421-144513148	RECQL4
Select item 27441752.	NM_004260.4(RECQL4):c.3624C>G (p.Arg1208=) GRCh37: Chr8:145736817 GRCh38: Chr8:144511434	RECQL4
Select item 6956113.	NM_004260.4(RECQL4):c.3624C>T (p.Arg1208=) GRCh37: Chr8:145736817 GRCh38: Chr8:144511434	RECQL4
Select item 4594954.	NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) GRCh37: Chr8:145736817 GRCh38: Chr8:144511434	RECQL4
Select item 5681015.	NM_004260.4(RECQL4):c.3623G>A (p.Arg1208His) GRCh37: Chr8:145736818 GRCh38: Chr8:144511435	RECQL4	R1208H
Select item 8515936.	NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly) GRCh37: Chr8:145736819 GRCh38: Chr8:144511436	RECQL4	R1208G
Select item 2397717.	NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) GRCh37: Chr8:145736819 GRCh38: Chr8:144511436	RECQL4	R1208C
Select item 11174928.	NM_004260.4(RECQL4):c.3621C>T (p.Ala1207=) GRCh37: Chr8:145736820 GRCh38: Chr8:144511437	RECQL4
Select item 6404229.	NM_004260.4(RECQL4):c.3618G>A (p.Val1206=) GRCh37: Chr8:145736823 GRCh38: Chr8:144511440	RECQL4
Select item 147072810.	NM_004260.4(RECQL4):c.3616G>A (p.Val1206Met) GRCh37: Chr8:145736825 GRCh38: Chr8:144511442	RECQL4	V1206M
Select item 141298311.	NM_004260.4(RECQL4):c.3615G>C (p.Gln1205His) GRCh37: Chr8:145736826 GRCh38: Chr8:144511443	RECQL4	Q1205H
Select item 74423012.	NM_004260.4(RECQL4):c.3615G>A (p.Gln1205=) GRCh37: Chr8:145736826 GRCh38: Chr8:144511443	RECQL4
Select item 85730013.	NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter) GRCh37: Chr8:145736828 GRCh38: Chr8:144511445	RECQL4	Q1205*
Select item 144460914.	NM_004260.4(RECQL4):c.3611T>A (p.Leu1204Gln) GRCh37: Chr8:145736830 GRCh38: Chr8:144511447	RECQL4	L1204Q
Select item 45949415.	NM_004260.4(RECQL4):c.3609_3611del (p.Leu1204del) GRCh37: Chr8:145736830-145736832 GRCh38: Chr8:144511447-144511449	RECQL4	L1204del
Select item 216034416.	NM_004260.4(RECQL4):c.3610C>T (p.Leu1204=) GRCh37: Chr8:145736831 GRCh38: Chr8:144511448	RECQL4
Select item 111527017.	NM_004260.4(RECQL4):c.3609C>A (p.Leu1203=) GRCh37: Chr8:145736832 GRCh38: Chr8:144511449	RECQL4
Select item 23977018.	NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) GRCh37: Chr8:145736832 GRCh38: Chr8:144511449	RECQL4
Select item 281951019.	NM_004260.4(RECQL4):c.3607C>T (p.Leu1203Phe) GRCh37: Chr8:145736834 GRCh38: Chr8:144511451	RECQL4	L1137F, L714F, L824F, L871F, L1086F, L1105F, L1171F, L1228F, L780F, L802F, L1159F, L1193F, L836F, L846F, L849F, L1160F, L1203F, L1206F
Select item 273419520.	NM_004260.4(RECQL4):c.3606G>A (p.Glu1202=) GRCh37: Chr8:145736835 GRCh38: Chr8:144511452	RECQL4
Select item 103928621.	NM_004260.4(RECQL4):c.3606G>T (p.Glu1202Asp) GRCh37: Chr8:145736835 GRCh38: Chr8:144511452	RECQL4	E1202D
Select item 65685422.	NM_004260.4(RECQL4):c.3606G>C (p.Glu1202Asp) GRCh37: Chr8:145736835 GRCh38: Chr8:144511452	RECQL4	E1202D
Select item 102727223.	NM_004260.4(RECQL4):c.3604G>A (p.Glu1202Lys) GRCh37: Chr8:145736837 GRCh38: Chr8:144511454	RECQL4	E1202K
Select item 52892724.	NM_004260.4(RECQL4):c.3602A>G (p.Glu1201Gly) GRCh37: Chr8:145736839 GRCh38: Chr8:144511456	RECQL4	E1201G
Select item 288574525.	NM_004260.4(RECQL4):c.3601del (p.Glu1201fs) GRCh37: Chr8:145736840 GRCh38: Chr8:144511457	RECQL4	E1103fs, E1158fs, E1169fs, E1191fs, E1204fs, E1226fs, E1135fs, E822fs, E834fs, E847fs, E1084fs, E1201fs, E844fs, E869fs, E1157fs, E712fs, E778fs, E800fs
Select item 163482526.	NM_004260.4(RECQL4):c.3600G>C (p.Thr1200=) GRCh37: Chr8:145736841 GRCh38: Chr8:144511458	RECQL4
Select item 9489527.	NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) GRCh37: Chr8:145736841 GRCh38: Chr8:144511458	RECQL4
Select item 66610728.	NM_004260.4(RECQL4):c.3599C>T (p.Thr1200Met) GRCh37: Chr8:145736842 GRCh38: Chr8:144511459	RECQL4	T1200M
Select item 73593529.	NM_004260.4(RECQL4):c.3597C>T (p.Ala1199=) GRCh37: Chr8:145736844 GRCh38: Chr8:144511461	RECQL4
Select item 65705030.	NM_004260.4(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) GRCh37: Chr8:145736844-145736867 GRCh38: Chr8:144511461-144511484	RECQL4
Select item 93471031.	NM_004260.4(RECQL4):c.3595G>A (p.Ala1199Thr) GRCh37: Chr8:145736846 GRCh38: Chr8:144511463	RECQL4	A1199T
Select item 213528332.	NM_004260.4(RECQL4):c.3594G>T (p.Leu1198=) GRCh37: Chr8:145736847 GRCh38: Chr8:144511464	RECQL4
Select item 23976933.	NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=) GRCh37: Chr8:145736847 GRCh38: Chr8:144511464	RECQL4
Select item 208467934.	NM_004260.4(RECQL4):c.3593T>C (p.Leu1198Pro) GRCh37: Chr8:145736848 GRCh38: Chr8:144511465	RECQL4	L1132P, L1223P, L709P, L775P, L1166P, L1198P, L831P, L1081P, L1188P, L797P, L819P, L844P, L1100P, L1154P, L1155P, L1201P, L841P, L866P
Select item 157862535.	NM_004260.4(RECQL4):c.3591C>T (p.Gly1197=) GRCh37: Chr8:145736850 GRCh38: Chr8:144511467	RECQL4
Select item 65584036.	NM_004260.4(RECQL4):c.3590G>A (p.Gly1197Asp) GRCh37: Chr8:145736851 GRCh38: Chr8:144511468	RECQL4	G1197D
Select item 95033937.	NM_004260.4(RECQL4):c.3589G>T (p.Gly1197Cys) GRCh37: Chr8:145736852 GRCh38: Chr8:144511469	RECQL4	G1197C
Select item 56934438.	NM_004260.4(RECQL4):c.3589G>A (p.Gly1197Ser) GRCh37: Chr8:145736852 GRCh38: Chr8:144511469	RECQL4	G1197S
Select item 110708539.	NM_004260.4(RECQL4):c.3588G>C (p.Val1196=) GRCh37: Chr8:145736853 GRCh38: Chr8:144511470	RECQL4
Select item 107985440.	NM_004260.4(RECQL4):c.3585G>C (p.Leu1195=) GRCh37: Chr8:145736856 GRCh38: Chr8:144511473	RECQL4
Select item 79276941.	NM_004260.4(RECQL4):c.3585G>T (p.Leu1195=) GRCh37: Chr8:145736856 GRCh38: Chr8:144511473	RECQL4
Select item 57468642.	NM_004260.4(RECQL4):c.3585G>A (p.Leu1195=) GRCh37: Chr8:145736856 GRCh38: Chr8:144511473	RECQL4
Select item 163423943.	NM_004260.4(RECQL4):c.3583C>T (p.Leu1195=) GRCh37: Chr8:145736858 GRCh38: Chr8:144511475	RECQL4
Select item 134625544.	NM_004260.4(RECQL4):c.3578_3583del (p.His1193_Ala1194del) GRCh37: Chr8:145736858-145736863 GRCh38: Chr8:144511475-144511480	RECQL4
Select item 95420345.	NM_004260.4(RECQL4):c.3583C>G (p.Leu1195Val) GRCh37: Chr8:145736858 GRCh38: Chr8:144511475	RECQL4	L1195V
Select item 112210546.	NM_004260.4(RECQL4):c.3582C>G (p.Ala1194=) GRCh37: Chr8:145736859 GRCh38: Chr8:144511476	RECQL4
Select item 23976847.	NM_004260.4(RECQL4):c.3582C>T (p.Ala1194=) GRCh37: Chr8:145736859 GRCh38: Chr8:144511476	RECQL4
Select item 210461448.	NM_004260.4(RECQL4):c.3581C>A (p.Ala1194Asp) GRCh37: Chr8:145736860 GRCh38: Chr8:144511477	RECQL4	A1077D, A1151D, A1184D, A827D, A1096D, A1128D, A1162D, A705D, A815D, A1194D, A1197D, A1219D, A862D, A1150D, A771D, A793D, A837D, A840D
Select item 104260649.	NM_004260.4(RECQL4):c.3580G>T (p.Ala1194Ser) GRCh37: Chr8:145736861 GRCh38: Chr8:144511478	RECQL4	A1194S
Select item 40695450.	NM_004260.4(RECQL4):c.3580G>A (p.Ala1194Thr) GRCh37: Chr8:145736861 GRCh38: Chr8:144511478	RECQL4	A1194T
Select item 276110251.	NM_004260.4(RECQL4):c.3579T>C (p.His1193=) GRCh37: Chr8:145736862 GRCh38: Chr8:144511479	RECQL4
Select item 58311752.	NM_004260.4(RECQL4):c.3578A>G (p.His1193Arg) GRCh37: Chr8:145736863 GRCh38: Chr8:144511480	RECQL4	H1193R
Select item 100041353.	NM_004260.4(RECQL4):c.3576C>G (p.Phe1192Leu) GRCh37: Chr8:145736865 GRCh38: Chr8:144511482	RECQL4	F1192L
Select item 76523754.	NM_004260.4(RECQL4):c.3576C>T (p.Phe1192=) GRCh37: Chr8:145736865 GRCh38: Chr8:144511482	RECQL4
Select item 286676055.	NM_004260.4(RECQL4):c.3575T>G (p.Phe1192Cys) GRCh37: Chr8:145736866 GRCh38: Chr8:144511483	RECQL4	F1149C, F1195C, F791C, F1075C, F1148C, F1182C, F1192C, F825C, F838C, F1094C, F703C, F813C, F860C, F1126C, F1160C, F1217C, F769C, F835C
Select item 138857056.	NM_004260.4(RECQL4):c.3573C>G (p.Ser1191Arg) GRCh37: Chr8:145736868 GRCh38: Chr8:144511485	RECQL4	S1191R
Select item 23976757.	NM_004260.4(RECQL4):c.3573C>T (p.Ser1191=) GRCh37: Chr8:145736868 GRCh38: Chr8:144511485	RECQL4
Select item 282009958.	NM_004260.4(RECQL4):c.3571A>C (p.Ser1191Arg) GRCh37: Chr8:145736870 GRCh38: Chr8:144511487	RECQL4	S1125R, S1159R, S1181R, S1147R, S1148R, S1194R, S768R, S859R, S1191R, S1216R, S702R, S790R, S812R, S824R, S834R, S1074R, S1093R, S837R
Select item 220151459.	NM_004260.4(RECQL4):c.3569T>G (p.Leu1190Arg) GRCh37: Chr8:145736872 GRCh38: Chr8:144511489	RECQL4	L1146R, L1092R, L1180R, L1190R, L1215R, L823R, L858R, L1073R, L1158R, L701R, L767R, L811R, L833R, L1124R, L1147R, L1193R, L789R, L836R
Select item 45949260.	NM_004260.4(RECQL4):c.3569T>C (p.Leu1190Pro) GRCh37: Chr8:145736872 GRCh38: Chr8:144511489	RECQL4	L1190P
Select item 285540261.	NM_004260.4(RECQL4):c.3568C>T (p.Leu1190=) GRCh37: Chr8:145736873 GRCh38: Chr8:144511490	RECQL4
Select item 209243762.	NM_004260.4(RECQL4):c.3565C>G (p.His1189Asp) GRCh37: Chr8:145736876 GRCh38: Chr8:144511493	RECQL4	H1146D, H1157D, H1189D, H857D, H1123D, H1214D, H700D, H766D, H788D, H810D, H1072D, H1091D, H1145D, H822D, H1179D, H1192D, H832D, H835D
Select item 83678363.	NM_004260.4(RECQL4):c.3565C>T (p.His1189Tyr) GRCh37: Chr8:145736876 GRCh38: Chr8:144511493	RECQL4	H1189Y
Select item 45949164.	NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro) GRCh37: Chr8:145736878 GRCh38: Chr8:144511495	RECQL4	L1188P
Select item 208543565.	NM_004260.4(RECQL4):c.3562C>G (p.Leu1188Val) GRCh37: Chr8:145736879 GRCh38: Chr8:144511496	RECQL4	L1071V, L1145V, L1156V, L1188V, L1178V, L1213V, L787V, L809V, L1122V, L699V, L821V, L831V, L856V, L1090V, L1144V, L1191V, L765V, L834V
Select item 78486066.	NM_004260.4(RECQL4):c.3562C>T (p.Leu1188=) GRCh37: Chr8:145736879 GRCh38: Chr8:144511496	RECQL4
Select item 75710567.	NM_004260.4(RECQL4):c.3561C>T (p.Tyr1187=) GRCh37: Chr8:145736880 GRCh38: Chr8:144511497	RECQL4
Select item 102676768.	NM_004260.4(RECQL4):c.3560A>C (p.Tyr1187Ser) GRCh37: Chr8:145736881 GRCh38: Chr8:144511498	RECQL4	Y1187S
Select item 66137969.	NM_004260.4(RECQL4):c.3560A>G (p.Tyr1187Cys) GRCh37: Chr8:145736881 GRCh38: Chr8:144511498	RECQL4	Y1187C
Select item 64107370.	NM_004260.4(RECQL4):c.3557A>G (p.Lys1186Arg) GRCh37: Chr8:145736884 GRCh38: Chr8:144511501	RECQL4	K1186R
Select item 152186171.	NM_004260.4(RECQL4):c.3555A>T (p.Arg1185Ser) GRCh37: Chr8:145736886 GRCh38: Chr8:144511503	RECQL4	R1185S
Select item 72819872.	NM_004260.4(RECQL4):c.3555A>G (p.Arg1185=) GRCh37: Chr8:145736886 GRCh38: Chr8:144511503	RECQL4
Select item 52897273.	NM_004260.4(RECQL4):c.3554G>C (p.Arg1185Thr) GRCh37: Chr8:145736887 GRCh38: Chr8:144511504	RECQL4	R1185T
Select item 65860574.	NM_004260.4(RECQL4):c.3552G>A (p.Trp1184Ter) GRCh37: Chr8:145736889 GRCh38: Chr8:144511506	RECQL4	W1184*
Select item 278998075.	NM_004260.4(RECQL4):c.3551G>A (p.Trp1184Ter) GRCh37: Chr8:145736890 GRCh38: Chr8:144511507	RECQL4	W1141, W1174, W805, W1086, W1187, W827, W830, W1067, W1152, W695, W761, W817, W1118, W1140, W1184, W1209, W783, W852
Select item 283435976.	NM_004260.4(RECQL4):c.3546C>A (p.Arg1182=) GRCh37: Chr8:145736895 GRCh38: Chr8:144511512	RECQL4
Select item 108510677.	NM_004260.4(RECQL4):c.3546C>T (p.Arg1182=) GRCh37: Chr8:145736895 GRCh38: Chr8:144511512	RECQL4
Select item 85645478.	NM_004260.4(RECQL4):c.3545_3546delinsTT (p.Arg1182Leu) GRCh37: Chr8:145736895-145736896 GRCh38: Chr8:144511512-144511513	RECQL4	R1182L
Select item 64871079.	NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) GRCh37: Chr8:145736896 GRCh38: Chr8:144511513	RECQL4	R1182H
Select item 23976680.	NM_004260.4(RECQL4):c.3544C>T (p.Arg1182Cys) GRCh37: Chr8:145736897 GRCh38: Chr8:144511514	RECQL4	R1182C
Select item 159725681.	NM_004260.4(RECQL4):c.3543A>T (p.Arg1181=) GRCh37: Chr8:145736898 GRCh38: Chr8:144511515	RECQL4
Select item 171863582.	NM_004260.4(RECQL4):c.3542G>C (p.Arg1181Pro) GRCh37: Chr8:145736899 GRCh38: Chr8:144511516	RECQL4	R1064P, R1083P, R1115P, R1137P, R1138P, R1149P, R1171P, R1181P, R1184P, R1206P, R692P, R758P, R780P, R802P, R814P, R824P, R827P, R849P
Select item 65326883.	NM_004260.4(RECQL4):c.3542G>T (p.Arg1181Leu) GRCh37: Chr8:145736899 GRCh38: Chr8:144511516	RECQL4	R1181L
Select item 52901784.	NM_004260.4(RECQL4):c.3542G>A (p.Arg1181Gln) GRCh37: Chr8:145736899 GRCh38: Chr8:144511516	RECQL4	R1181Q
Select item 40694885.	NM_004260.4(RECQL4):c.3541C>T (p.Arg1181Ter) GRCh37: Chr8:145736900 GRCh38: Chr8:144511517	RECQL4	R1181*
Select item 272539086.	NM_004260.4(RECQL4):c.3537G>A (p.Gln1179=) GRCh37: Chr8:145736904 GRCh38: Chr8:144511521	RECQL4
Select item 214452487.	NM_004260.4(RECQL4):c.3536A>G (p.Gln1179Arg) GRCh37: Chr8:145736905 GRCh38: Chr8:144511522	RECQL4	Q1169R, Q690R, Q822R, Q825R, Q1147R, Q1179R, Q1182R, Q1204R, Q1113R, Q1135R, Q756R, Q778R, Q847R, Q1062R, Q1081R, Q1136R, Q800R, Q812R
Select item 95194788.	NM_004260.4(RECQL4):c.3536A>C (p.Gln1179Pro) GRCh37: Chr8:145736905 GRCh38: Chr8:144511522	RECQL4	Q1179P
Select item 288727689.	NM_004260.4(RECQL4):c.3533G>C (p.Gly1178Ala) GRCh37: Chr8:145736908 GRCh38: Chr8:144511525	RECQL4	G1112A, G1168A, G1181A, G821A, G1061A, G1134A, G1146A, G755A, G799A, G824A, G1178A, G1203A, G777A, G1080A, G1135A, G689A, G811A, G846A
Select item 85970790.	NM_004260.4(RECQL4):c.3533G>A (p.Gly1178Glu) GRCh37: Chr8:145736908 GRCh38: Chr8:144511525	RECQL4	G1178E
Select item 144501991.	NM_004260.4(RECQL4):c.3532G>C (p.Gly1178Arg) GRCh37: Chr8:145736909 GRCh38: Chr8:144511526	RECQL4	G1178R
Select item 65095092.	NM_004260.4(RECQL4):c.3532G>T (p.Gly1178Trp) GRCh37: Chr8:145736909 GRCh38: Chr8:144511526	RECQL4	G1178W
Select item 40690193.	NM_004260.4(RECQL4):c.3532G>A (p.Gly1178Arg) GRCh37: Chr8:145736909 GRCh38: Chr8:144511526	RECQL4	G1178R
Select item 151331394.	NM_004260.4(RECQL4):c.3531C>G (p.Tyr1177Ter) GRCh37: Chr8:145736910 GRCh38: Chr8:144511527	RECQL4	Y1177*
Select item 23976595.	NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) GRCh37: Chr8:145736910 GRCh38: Chr8:144511527	RECQL4
Select item 52896496.	NM_004260.4(RECQL4):c.3530A>G (p.Tyr1177Cys) GRCh37: Chr8:145736911 GRCh38: Chr8:144511528	RECQL4	Y1177C
Select item 84818097.	NM_004260.4(RECQL4):c.3529T>A (p.Tyr1177Asn) GRCh37: Chr8:145736912 GRCh38: Chr8:144511529	RECQL4	Y1177N
Select item 52897598.	NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) GRCh37: Chr8:145736913 GRCh38: Chr8:144511530	RECQL4
Select item 64900899.	NM_004260.4(RECQL4):c.3526G>C (p.Val1176Leu) GRCh37: Chr8:145736915 GRCh38: Chr8:144511532	RECQL4	V1176L
Select item 573025100.	NM_004260.4(RECQL4):c.3526G>A (p.Val1176Met) GRCh37: Chr8:145736915 GRCh38: Chr8:144511532	RECQL4	V1176M

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