ClinVar for MedGen (Select 1800828) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24443561.	NM_001371623.1(TCOF1):c.142del (p.Asp48fs) GRCh37: Chr5:149740751 GRCh38: Chr5:150361188	TCOF1	D48fs	Treacher Collins syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24442782.	NM_001371623.1(TCOF1):c.41T>G (p.Ile14Ser) GRCh37: Chr5:149737350 GRCh38: Chr5:150357787	TCOF1	I14S	Treacher Collins syndrome 1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24442383.	NM_001371623.1(TCOF1):c.3099del (p.Ala1035fs) GRCh37: Chr5:149769498 GRCh38: Chr5:150389935	TCOF1	A1035fs, A958fs	Treacher Collins syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24442264.	NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs) GRCh37: Chr5:149755010-149755011 GRCh38: Chr5:150375447-150375448	TCOF1	S458fs, S535fs	Treacher Collins syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24370255.	NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys) GRCh37: Chr5:149754339 GRCh38: Chr5:150374776	TCOF1	E338K, E415K	Treacher Collins syndrome 1	Uncertain significance (May 4, 2021)	criteria provided, single submitter
Select item 24370246.	NM_001371623.1(TCOF1):c.2717C>T (p.Ser906Phe) GRCh37: Chr5:149759153 GRCh38: Chr5:150379590	TCOF1	S829F, S906F	Treacher Collins syndrome 1	Uncertain significance (Jul 30, 2021)	criteria provided, single submitter
Select item 24319137.	NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter) GRCh37: Chr5:149755047 GRCh38: Chr5:150375484	TCOF1	S468, S545	Treacher Collins syndrome 1	Pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 24282748.	NM_001371623.1(TCOF1):c.3530C>A (p.Pro1177His) GRCh37: Chr5:149772280 GRCh38: Chr5:150392717	TCOF1	P1099H, P1100H, P1138H, P1139H, P1176H, P1177H	Treacher Collins syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 24188249.	NM_001371623.1(TCOF1):c.3046+7G>A GRCh37: Chr5:149767658 GRCh38: Chr5:150388095	TCOF1		Treacher Collins syndrome 1	Benign (Feb 27, 2022)	criteria provided, single submitter
Select item 241881910.	NM_001371623.1(TCOF1):c.2658+14A>T GRCh37: Chr5:149758985 GRCh38: Chr5:150379422	TCOF1		Treacher Collins syndrome 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 241449611.	NM_001371623.1(TCOF1):c.1704+16G>A GRCh37: Chr5:149755133 GRCh38: Chr5:150375570	TCOF1		Treacher Collins syndrome 1	Benign (Jul 23, 2022)	criteria provided, single submitter
Select item 241444512.	NM_001371623.1(TCOF1):c.4346-12_4346-8del GRCh37: Chr5:149777896-149777900 GRCh38: Chr5:150398333-150398337	TCOF1		Treacher Collins syndrome 1	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 241428013.	NM_001371623.1(TCOF1):c.4338C>T (p.Ser1446_Asp1447=) GRCh37: Chr5:149776398 GRCh38: Chr5:150396835	TCOF1		Treacher Collins syndrome 1	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 241424514.	NM_001371623.1(TCOF1):c.3298-8C>T GRCh37: Chr5:149771512 GRCh38: Chr5:150391949	TCOF1		Treacher Collins syndrome 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 241380415.	NM_001371623.1(TCOF1):c.3858A>G (p.Gln1286_Ala1287=) GRCh37: Chr5:149775918 GRCh38: Chr5:150396355	TCOF1		Treacher Collins syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 238436716.	NM_001371623.1(TCOF1):c.928A>C (p.Thr310Pro) GRCh37: Chr5:149753794 GRCh38: Chr5:150374231	TCOF1	T233P, T310P	Inborn genetic diseases, Treacher Collins syndrome 1	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219779517.	NM_001371623.1(TCOF1):c.2187G>T (p.Val729_Pro730=) GRCh37: Chr5:149756030 GRCh38: Chr5:150376467	TCOF1		Treacher Collins syndrome 1	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 219727218.	NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys) GRCh37: Chr5:149743740 GRCh38: Chr5:150364177	TCOF1	R77C	Treacher Collins syndrome 1	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 219396819.	NM_001371623.1(TCOF1):c.3785-14T>G GRCh37: Chr5:149775831 GRCh38: Chr5:150396268	TCOF1		Treacher Collins syndrome 1	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 219357520.	NM_001371623.1(TCOF1):c.2862G>A (p.Val954_Ile955=) GRCh37: Chr5:149767467 GRCh38: Chr5:150387904	TCOF1		Treacher Collins syndrome 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 217490221.	NM_001371623.1(TCOF1):c.181C>T (p.Arg61Trp) GRCh37: Chr5:149743692 GRCh38: Chr5:150364129	TCOF1	R61W	Treacher Collins syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 217167222.	NM_001371623.1(TCOF1):c.1278+10_1278+11del GRCh37: Chr5:149754382-149754383 GRCh38: Chr5:150374819-150374820	TCOF1		Treacher Collins syndrome 1	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 216814223.	NM_001371623.1(TCOF1):c.129C>G (p.Pro43_Val44=) GRCh37: Chr5:149740739 GRCh38: Chr5:150361176	TCOF1		Treacher Collins syndrome 1	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 216507424.	NM_001371623.1(TCOF1):c.1569A>G (p.Pro523_Val524=) GRCh37: Chr5:149754982 GRCh38: Chr5:150375419	TCOF1		Treacher Collins syndrome 1	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 216124725.	NM_001371623.1(TCOF1):c.1314C>T (p.Ala438_Ala439=) GRCh37: Chr5:149754552 GRCh38: Chr5:150374989	TCOF1		Treacher Collins syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 215705626.	NM_001371623.1(TCOF1):c.3531C>G (p.Pro1177_Ser1178=) GRCh37: Chr5:149772281 GRCh38: Chr5:150392718	TCOF1		Treacher Collins syndrome 1	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 215535027.	NM_001371623.1(TCOF1):c.4209G>A (p.Lys1403_Lys1404=) GRCh37: Chr5:149776269 GRCh38: Chr5:150396706	TCOF1		Treacher Collins syndrome 1	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 215375028.	NM_001371623.1(TCOF1):c.3872C>T (p.Ala1291Val) GRCh37: Chr5:149775932 GRCh38: Chr5:150396369	TCOF1	A1252V, A1253V, A1214V, A1213V, A1290V, A1291V	Treacher Collins syndrome 1	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 215343229.	NM_001371623.1(TCOF1):c.2489C>G (p.Pro830Arg) GRCh37: Chr5:149758802 GRCh38: Chr5:150379239	TCOF1	P753R, P830R	Treacher Collins syndrome 1	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 215086630.	NM_001371623.1(TCOF1):c.1653G>A (p.Glu551_Ser552=) GRCh37: Chr5:149755066 GRCh38: Chr5:150375503	TCOF1		Treacher Collins syndrome 1	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 214784931.	NM_001371623.1(TCOF1):c.2348C>A (p.Thr783Asn) GRCh37: Chr5:149758475 GRCh38: Chr5:150378912	TCOF1	T706N, T783N	Treacher Collins syndrome 1	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 214781532.	NM_001371623.1(TCOF1):c.294C>T (p.Thr98_Ala99=) GRCh37: Chr5:149743805 GRCh38: Chr5:150364242	TCOF1		Treacher Collins syndrome 1	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 214644333.	NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala) GRCh37: Chr5:149753812 GRCh38: Chr5:150374249	TCOF1	T239A, T316A	Treacher Collins syndrome 1	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 214540934.	NM_001371623.1(TCOF1):c.3046+17T>C GRCh37: Chr5:149767668 GRCh38: Chr5:150388105	TCOF1		Treacher Collins syndrome 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 214289935.	NM_001371623.1(TCOF1):c.1320G>A (p.Ser440_Ala441=) GRCh37: Chr5:149754558 GRCh38: Chr5:150374995	TCOF1		Treacher Collins syndrome 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214109136.	NM_001371623.1(TCOF1):c.2142+19G>C GRCh37: Chr5:149755912 GRCh38: Chr5:150376349	TCOF1		Treacher Collins syndrome 1	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 214039537.	NM_001371623.1(TCOF1):c.1844C>T (p.Ser615Leu) GRCh37: Chr5:149755423 GRCh38: Chr5:150375860	TCOF1	S538L, S615L	Treacher Collins syndrome 1	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 213990338.	NM_001371623.1(TCOF1):c.1748G>A (p.Ser583Asn) GRCh37: Chr5:149755327 GRCh38: Chr5:150375764	TCOF1	S583N, S506N	Treacher Collins syndrome 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 213634939.	NM_001371623.1(TCOF1):c.3856del (p.Gln1286fs) GRCh37: Chr5:149775912 GRCh38: Chr5:150396349	TCOF1	Q1286fs, Q1208fs, Q1247fs, Q1209fs, Q1248fs, Q1285fs	Treacher Collins syndrome 1	Pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 213634840.	NM_001371623.1(TCOF1):c.2313_2316del (p.Ser771fs) GRCh37: Chr5:149756154-149756157 GRCh38: Chr5:150376591-150376594	TCOF1	S694fs, S771fs	Treacher Collins syndrome 1	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 213634641.	NM_001371623.1(TCOF1):c.1303del (p.Gln435fs) GRCh37: Chr5:149754536 GRCh38: Chr5:150374973	TCOF1	Q435fs, Q358fs	Treacher Collins syndrome 1	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 213634542.	NM_001371623.1(TCOF1):c.390_391del (p.Lys131fs) GRCh37: Chr5:149748287-149748288 GRCh38: Chr5:150368724-150368725	TCOF1	K131fs	Treacher Collins syndrome 1	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 212824043.	NM_001371623.1(TCOF1):c.108+11G>T GRCh37: Chr5:149737428 GRCh38: Chr5:150357865	TCOF1		Treacher Collins syndrome 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 212436744.	NM_001371623.1(TCOF1):c.2830dup (p.Glu944fs) GRCh37: Chr5:149759262-149759263 GRCh38: Chr5:150379699-150379700	TCOF1	E867fs, E944fs	Treacher Collins syndrome 1	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 212250545.	NM_001371623.1(TCOF1):c.1646del (p.Ser549fs) GRCh37: Chr5:149755059 GRCh38: Chr5:150375496	TCOF1	S472fs, S549fs	Treacher Collins syndrome 1	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 211534346.	NM_001371623.1(TCOF1):c.2314G>A (p.Glu772Lys) GRCh37: Chr5:149756157 GRCh38: Chr5:150376594	TCOF1	E772K, E695K	Treacher Collins syndrome 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211261547.	NM_001371623.1(TCOF1):c.3366C>G (p.Thr1122_Asn1123=) GRCh37: Chr5:149771588 GRCh38: Chr5:150392025	TCOF1		Treacher Collins syndrome 1	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211222748.	NM_001371623.1(TCOF1):c.3505G>T (p.Ala1169Ser) GRCh37: Chr5:149771727 GRCh38: Chr5:150392164	TCOF1	A1169S, A1092S, A1131S	Treacher Collins syndrome 1	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 210904049.	NM_001371623.1(TCOF1):c.1741A>C (p.Thr581Pro) GRCh37: Chr5:149755320 GRCh38: Chr5:150375757	TCOF1	T504P, T581P	Treacher Collins syndrome 1	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210812150.	NM_001371623.1(TCOF1):c.1250C>T (p.Ser417Leu) GRCh37: Chr5:149754346 GRCh38: Chr5:150374783	TCOF1	S417L, S340L	Treacher Collins syndrome 1	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 210619951.	NM_001371623.1(TCOF1):c.4448A>C (p.Lys1483Thr) GRCh37: Chr5:149778589 GRCh38: Chr5:150399026	TCOF1	K1406T, K1482T, K1445T, K1483T, K1405T, K1444T	Treacher Collins syndrome 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 210174852.	NM_001371623.1(TCOF1):c.2072_2073del (p.Glu691fs) GRCh37: Chr5:149755821-149755822 GRCh38: Chr5:150376258-150376259	TCOF1	E614fs, E691fs	Treacher Collins syndrome 1	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 210061153.	NM_001371623.1(TCOF1):c.293C>T (p.Thr98Ile) GRCh37: Chr5:149743804 GRCh38: Chr5:150364241	TCOF1	T98I	Treacher Collins syndrome 1	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 209668654.	NM_001371623.1(TCOF1):c.2039del (p.Pro680fs) GRCh37: Chr5:149755787 GRCh38: Chr5:150376224	TCOF1	P603fs, P680fs	Treacher Collins syndrome 1	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 208695355.	NM_001371623.1(TCOF1):c.304+1del GRCh37: Chr5:149743816 GRCh38: Chr5:150364253	TCOF1		Treacher Collins syndrome 1	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 208386356.	NM_001371623.1(TCOF1):c.305-4G>C GRCh37: Chr5:149747403 GRCh38: Chr5:150367840	TCOF1		Treacher Collins syndrome 1	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 208131557.	NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471_Ser1472=) GRCh37: Chr5:149777984 GRCh38: Chr5:150398421	TCOF1		Treacher Collins syndrome 1	Benign (Oct 2, 2022)	criteria provided, single submitter
Select item 207898558.	NM_001371623.1(TCOF1):c.4120G>T (p.Gly1374Trp) GRCh37: Chr5:149776180 GRCh38: Chr5:150396617	TCOF1	G1335W, G1336W, G1373W, G1374W, G1296W, G1297W	Treacher Collins syndrome 1	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 207453659.	NM_001371623.1(TCOF1):c.2187G>A (p.Val729_Pro730=) GRCh37: Chr5:149756030 GRCh38: Chr5:150376467	TCOF1		Treacher Collins syndrome 1	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 206820360.	NM_001371623.1(TCOF1):c.4444-18G>A GRCh37: Chr5:149778567 GRCh38: Chr5:150399004	TCOF1		Treacher Collins syndrome 1	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 206621161.	NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp) GRCh37: Chr5:149754312 GRCh38: Chr5:150374749	TCOF1	R406W, R329W	Treacher Collins syndrome 1	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 206384762.	NM_001371623.1(TCOF1):c.4345+10C>T GRCh37: Chr5:149776415 GRCh38: Chr5:150396852	TCOF1		Treacher Collins syndrome 1	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 205899163.	NM_001371623.1(TCOF1):c.2133C>T (p.Thr711_Val712=) GRCh37: Chr5:149755884 GRCh38: Chr5:150376321	TCOF1		Treacher Collins syndrome 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 205687564.	NM_001371623.1(TCOF1):c.2897G>A (p.Arg966His) GRCh37: Chr5:149767502 GRCh38: Chr5:150387939	TCOF1	R889H, R966H	Treacher Collins syndrome 1	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 205540365.	NM_001371623.1(TCOF1):c.345G>A (p.Ala115_Asp116=) GRCh37: Chr5:149747447 GRCh38: Chr5:150367884	TCOF1		Treacher Collins syndrome 1	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 205205266.	NM_001371623.1(TCOF1):c.1605A>T (p.Ser535_Ala536=) GRCh37: Chr5:149755018 GRCh38: Chr5:150375455	TCOF1		Treacher Collins syndrome 1	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 205022667.	NM_001371623.1(TCOF1):c.3914G>T (p.Trp1305Leu) GRCh37: Chr5:149775974 GRCh38: Chr5:150396411	TCOF1	W1227L, W1267L, W1305L, W1266L, W1228L, W1304L	Treacher Collins syndrome 1	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 204788368.	NM_001371623.1(TCOF1):c.3658T>C (p.Ser1220Pro) GRCh37: Chr5:149772989 GRCh38: Chr5:150393426	TCOF1	S1143P, S1219P, S1220P, S1142P, S1181P, S1182P	Treacher Collins syndrome 1	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 204640569.	NM_001371623.1(TCOF1):c.2479-20A>G GRCh37: Chr5:149758772 GRCh38: Chr5:150379209	TCOF1		Treacher Collins syndrome 1	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 204215570.	NM_001371623.1(TCOF1):c.2560G>A (p.Val854Met) GRCh37: Chr5:149758873 GRCh38: Chr5:150379310	TCOF1	V777M, V854M	Treacher Collins syndrome 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 204154271.	NM_001371623.1(TCOF1):c.2258A>G (p.Gln753Arg) GRCh37: Chr5:149756101 GRCh38: Chr5:150376538	TCOF1	Q753R, Q676R	Treacher Collins syndrome 1	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 204055372.	NM_001371623.1(TCOF1):c.1038A>G (p.Ser346_Ser347=) GRCh37: Chr5:149753904 GRCh38: Chr5:150374341	TCOF1		Treacher Collins syndrome 1	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 203802973.	NM_001371623.1(TCOF1):c.3184-19T>C GRCh37: Chr5:149771088 GRCh38: Chr5:150391525	TCOF1		Treacher Collins syndrome 1	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203768674.	NM_001371623.1(TCOF1):c.1488+3G>A GRCh37: Chr5:149754729 GRCh38: Chr5:150375166	TCOF1		Treacher Collins syndrome 1	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 203767775.	NM_001371623.1(TCOF1):c.2676G>A (p.Lys892_Thr893=) GRCh37: Chr5:149759112 GRCh38: Chr5:150379549	TCOF1		Treacher Collins syndrome 1	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 203616576.	NM_001371623.1(TCOF1):c.930C>G (p.Thr310_Pro311=) GRCh37: Chr5:149753796 GRCh38: Chr5:150374233	TCOF1		Treacher Collins syndrome 1	Benign (Jan 8, 2022)	criteria provided, single submitter
Select item 203359677.	NM_001371623.1(TCOF1):c.3608_3609del (p.Leu1203fs) GRCh37: Chr5:149772935-149772936 GRCh38: Chr5:150393372-150393373	TCOF1	L1125fs, L1126fs, L1164fs, L1165fs, L1202fs, L1203fs	Treacher Collins syndrome 1	Pathogenic (Oct 1, 2022)	criteria provided, single submitter
Select item 203094778.	NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter) GRCh37: Chr5:149767540 GRCh38: Chr5:150387977	TCOF1	Q902, Q979	Treacher Collins syndrome 1	Pathogenic (Sep 17, 2022)	criteria provided, single submitter
Select item 202676979.	NM_001371623.1(TCOF1):c.3918_3942del (p.Leu1307fs) GRCh37: Chr5:149775974-149775998 GRCh38: Chr5:150396411-150396435	TCOF1	L1229fs, L1230fs, L1268fs, L1307fs, L1269fs, L1306fs	Treacher Collins syndrome 1	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 201896580.	NM_001371623.1(TCOF1):c.827_844dup (p.Glu281_Glu282insGlySerGluSerGluGlu) GRCh37: Chr5:149751745-149751746 GRCh38: Chr5:150372182-150372183	TCOF1		Treacher Collins syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 201757881.	NM_001371623.1(TCOF1):c.3888C>T (p.Ile1296_Thr1297=) GRCh37: Chr5:149775948 GRCh38: Chr5:150396385	TCOF1		Treacher Collins syndrome 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 200760582.	NM_001371623.1(TCOF1):c.2658+13G>T GRCh37: Chr5:149758984 GRCh38: Chr5:150379421	TCOF1		Treacher Collins syndrome 1	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 199570283.	NM_001371623.1(TCOF1):c.3912del (p.Trp1305fs) GRCh37: Chr5:149775970 GRCh38: Chr5:150396407	TCOF1	W1304fs, W1266fs, W1267fs, W1227fs, W1228fs, W1305fs	Treacher Collins syndrome 1	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 199559184.	NM_001371623.1(TCOF1):c.2553del (p.Lys852fs) GRCh37: Chr5:149758863 GRCh38: Chr5:150379300	TCOF1	K775fs, K852fs	Treacher Collins syndrome 1	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 199290885.	NM_001371623.1(TCOF1):c.444G>A (p.Val148_Ala149=) GRCh37: Chr5:149748344 GRCh38: Chr5:150368781	TCOF1		Treacher Collins syndrome 1	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 198622286.	NM_001371623.1(TCOF1):c.1073C>A (p.Ala358Asp) GRCh37: Chr5:149753939 GRCh38: Chr5:150374376	TCOF1	A281D, A358D	Treacher Collins syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 198142087.	NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn) GRCh37: Chr5:149771673 GRCh38: Chr5:150392110	TCOF1	D1151N, D1074N, D1113N	Treacher Collins syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 197969088.	NM_001371623.1(TCOF1):c.2539G>T (p.Val847Leu) GRCh37: Chr5:149758852 GRCh38: Chr5:150379289	TCOF1	V770L, V847L	Treacher Collins syndrome 1	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 197820289.	NM_001371623.1(TCOF1):c.3397G>A (p.Val1133Ile) GRCh37: Chr5:149771619 GRCh38: Chr5:150392056	TCOF1	V1095I, V1133I, V1056I	Treacher Collins syndrome 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 195695790.	NM_001371623.1(TCOF1):c.2353G>A (p.Val785Ile) GRCh37: Chr5:149758480 GRCh38: Chr5:150378917	TCOF1	V708I, V785I	Treacher Collins syndrome 1	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 194157991.	NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu) GRCh37: Chr5:149755287 GRCh38: Chr5:150375724	TCOF1	K570E, K493E	Inborn genetic diseases, Treacher Collins syndrome 1	Uncertain significance (Nov 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193896092.	NM_001371623.1(TCOF1):c.1084-19_1084-18del GRCh37: Chr5:149754159-149754160 GRCh38: Chr5:150374596-150374597	TCOF1		Treacher Collins syndrome 1	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 193489193.	NM_001371623.1(TCOF1):c.1844CGGACAGTG[3] (p.Ser620_Glu621insAlaAspSer) GRCh37: Chr5:149755422-149755423 GRCh38: Chr5:150375859-150375860	TCOF1		Treacher Collins syndrome 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 193194794.	NM_001371623.1(TCOF1):c.1113C>G (p.Val371_Gly372=) GRCh37: Chr5:149754209 GRCh38: Chr5:150374646	TCOF1		Treacher Collins syndrome 1	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 192076995.	NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182_Leu1183=) GRCh37: Chr5:149772296 GRCh38: Chr5:150392733	TCOF1		Treacher Collins syndrome 1	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 191024096.	NM_001371623.1(TCOF1):c.288C>T (p.Ala96_Glu97=) GRCh37: Chr5:149743799 GRCh38: Chr5:150364236	TCOF1		Treacher Collins syndrome 1	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 180959597.	NM_001371623.1(TCOF1):c.1340C>G (p.Pro447Arg) GRCh37: Chr5:149754578 GRCh38: Chr5:150375015	TCOF1	P370R, P447R	Treacher Collins syndrome 1	Uncertain significance (Nov 25, 2022)	criteria provided, single submitter
Select item 180683698.	NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs) GRCh37: Chr5:149777937-149777940 GRCh38: Chr5:150398374-150398377	TCOF1	E1379fs, E1380fs, E1418fs, E1419fs, E1456fs, E1457fs	Treacher Collins syndrome 1	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 180683299.	NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs) GRCh37: Chr5:149771610 GRCh38: Chr5:150392047	TCOF1	L1053fs, L1092fs, L1130fs	Treacher Collins syndrome 1	Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1805402100.	NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter) GRCh37: Chr5:149771712 GRCh38: Chr5:150392149	TCOF1	Q1087, Q1126, Q1164*	Treacher Collins syndrome 1	Pathogenic (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts

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