ClinVar for MedGen (Select 443983) - ClinVar

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Items: 90

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26270781.	NM_001348323.3(TRIP12):c.1787_1800del (p.Met596fs) GRCh37: Chr2:230678973-230678986 GRCh38: Chr2:229814257-229814270	TRIP12	M251fs, M548fs, M554fs, M567fs, M596fs	Clark-Baraitser syndrome	Pathogenic (Oct 30, 2023)	no assertion criteria provided
Select item 26267692.	NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val) GRCh37: Chr2:230650537 GRCh38: Chr2:229785821	TRIP12	A1332V, A1630V, A1643V, A1651V, A1678V, A1602V, A1603V, A1672V, A1673V, A1635V, A1650V, A1677V	Clark-Baraitser syndrome	Likely pathogenic (Oct 25, 2023)	criteria provided, single submitter
Select item 25845033.	NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs) GRCh37: Chr2:230656680 GRCh38: Chr2:229791964	TRIP12	Q1095fs, Q1365fs, Q1366fs, Q1393fs, Q1398fs, Q1406fs, Q1413fs, Q1414fs, Q1435fs, Q1436fs, Q1440fs, Q1441fs	Clark-Baraitser syndrome	Pathogenic	criteria provided, single submitter
Select item 25825144.	NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs) GRCh37: Chr2:230632346-230632348 GRCh38: Chr2:229767630-229767632	TRIP12	Y1698fs, Y1968fs, Y1969fs, Y1996fs, Y2001fs, Y2009fs, Y2016fs, Y2017fs, Y2038fs, Y2039fs, Y2043fs, Y2044fs	Clark-Baraitser syndrome	Uncertain significance (Mar 7, 2023)	criteria provided, single submitter
Select item 25791585.	NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter) GRCh37: Chr2:230723503 GRCh38: Chr2:229858787	TRIP12	Q296, Q309, Q338*	Clark-Baraitser syndrome	Pathogenic (Jul 18, 2023)	criteria provided, single submitter
Select item 25784296.	NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs) GRCh37: Chr2:230659994 GRCh38: Chr2:229795278	TRIP12	L1215fs, L1221fs, L1248fs, L1261fs, L1263fs, L1264fs, L1290fs, L1291fs, L945fs	Clark-Baraitser syndrome	Likely pathogenic (Aug 7, 2023)	criteria provided, single submitter
Select item 25724637.	NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter) GRCh37: Chr2:230668826-230668827 GRCh38: Chr2:229804110-229804111	TRIP12	S578, S848, S854, S881, S894, S896, S897, S923, S924*	Clark-Baraitser syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25050748.	NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter) GRCh37: Chr2:230683169 GRCh38: Chr2:229818453	TRIP12	Q159, Q456, Q462, Q475, Q504*	Clark-Baraitser syndrome	not provided	no assertion provided
Select item 25034179.	NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs) GRCh37: Chr2:230668909-230668915 GRCh38: Chr2:229804193-229804199	TRIP12	D548fs, D818fs, D824fs, D851fs, D864fs, D866fs, D867fs, D893fs, D894fs	Clark-Baraitser syndrome	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 249813510.	NM_001348323.3(TRIP12):c.2065C>T (p.Gln689Ter) GRCh37: Chr2:230675752 GRCh38: Chr2:229811036	TRIP12	Q344, Q641, Q647, Q660, Q689*	Clark-Baraitser syndrome	Pathogenic (Feb 26, 2021)	criteria provided, single submitter
Select item 244211711.	NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs) GRCh37: Chr2:230670467-230670471 GRCh38: Chr2:229805751-229805755	TRIP12	N531fs, N801fs, N807fs, N834fs, N847fs, N849fs, N850fs, N876fs, N877fs	Clark-Baraitser syndrome	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 243854912.	NM_001348323.3(TRIP12):c.5675del (p.Asn1892fs) GRCh37: Chr2:230638832 GRCh38: Chr2:229774116	TRIP12	N1547fs, N1817fs, N1818fs, N1845fs, N1850fs, N1858fs, N1865fs, N1866fs, N1887fs, N1888fs, N1892fs, N1893fs	Clark-Baraitser syndrome	Pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 243733113.	NM_001348323.3(TRIP12):c.4277A>G (p.His1426Arg) GRCh37: Chr2:230656720 GRCh38: Chr2:229792004	TRIP12	H1081R, H1351R, H1352R, H1379R, H1384R, H1392R, H1399R, H1400R, H1421R, H1422R, H1426R, H1427R	Clark-Baraitser syndrome	Uncertain significance (Nov 16, 2022)	criteria provided, single submitter
Select item 243733014.	NM_001348323.3(TRIP12):c.3399C>G (p.Asn1133Lys) GRCh37: Chr2:230663674 GRCh38: Chr2:229798958	TRIP12	N1058K, N1064K, N1091K, N1104K, N1106K, N1107K, N1133K, N1134K, N788K	Clark-Baraitser syndrome	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 243732915.	NM_001348323.3(TRIP12):c.3207-7T>C GRCh37: Chr2:230664106 GRCh38: Chr2:229799390	TRIP12		Clark-Baraitser syndrome	Uncertain significance (Apr 29, 2019)	criteria provided, single submitter
Select item 243732816.	NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser) GRCh37: Chr2:230724186 GRCh38: Chr2:229859470	TRIP12	N110S, N68S	Clark-Baraitser syndrome	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 243732717.	NM_001348323.3(TRIP12):c.1177C>T (p.Arg393Cys) GRCh37: Chr2:230701657 GRCh38: Chr2:229836941	TRIP12	R351C, R364C, R393C, R48C	Clark-Baraitser syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 243732618.	NM_001348323.3(TRIP12):c.1922C>T (p.Thr641Met) GRCh37: Chr2:230678650 GRCh38: Chr2:229813934	TRIP12	T296M, T593M, T599M, T612M, T641M	Clark-Baraitser syndrome, not provided	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 243732519.	NM_001348323.3(TRIP12):c.4610T>C (p.Ile1537Thr) GRCh37: Chr2:230654412 GRCh38: Chr2:229789696	TRIP12	I1192T, I1462T, I1463T, I1490T, I1495T, I1503T, I1510T, I1511T, I1532T, I1533T, I1537T, I1538T	Clark-Baraitser syndrome	Uncertain significance (Nov 20, 2020)	criteria provided, single submitter
Select item 243732420.	NM_001348323.3(TRIP12):c.2009C>T (p.Thr670Ile) GRCh37: Chr2:230675898 GRCh38: Chr2:229811182	TRIP12	T325I, T622I, T628I, T641I, T670I	Clark-Baraitser syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 243732321.	NM_001348323.3(TRIP12):c.3782T>C (p.Leu1261Ser) GRCh37: Chr2:230661341 GRCh38: Chr2:229796625	TRIP12	L1186S, L1192S, L1219S, L1232S, L1234S, L1235S, L1261S, L1262S, L916S	Clark-Baraitser syndrome	Uncertain significance (Oct 13, 2021)	criteria provided, single submitter
Select item 243732222.	NM_001348323.3(TRIP12):c.2396A>G (p.Lys799Arg) GRCh37: Chr2:230672524 GRCh38: Chr2:229807808	TRIP12	K454R, K751R, K757R, K770R, K799R	Clark-Baraitser syndrome	Uncertain significance (Sep 25, 2020)	criteria provided, single submitter
Select item 242982923.	NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del) GRCh37: Chr2:230654375-230654377 GRCh38: Chr2:229789659-229789661	TRIP12	L1205del, L1475del, L1476del, L1503del, L1508del, L1516del, L1523del, L1524del, L1545del, L1546del, L1550del, L1551del	Clark-Baraitser syndrome	Likely pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 239506224.	NM_001348323.3(TRIP12):c.1823C>T (p.Ala608Val) GRCh37: Chr2:230678950 GRCh38: Chr2:229814234	TRIP12	A579V, A608V, A566V, A263V, A560V	Clark-Baraitser syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 15, 2021)	criteria provided, conflicting interpretations
Select item 235407025.	NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr) GRCh37: Chr2:230673034 GRCh38: Chr2:229808318	TRIP12	C710Y, C716Y, C758Y, C413Y, C729Y	Inborn genetic diseases, Clark-Baraitser syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 233352426.	NM_001348323.3(TRIP12):c.964C>A (p.Pro322Thr) GRCh37: Chr2:230723551 GRCh38: Chr2:229858835	TRIP12	P322T, P280T	Clark-Baraitser syndrome, Inborn genetic diseases	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199233227.	NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs) GRCh37: Chr2:230642107-230642108 GRCh38: Chr2:229777391-229777392	TRIP12	P1744fs, P1791fs, P1813fs, P1473fs, P1743fs, P1771fs, P1776fs, P1784fs, P1818fs, P1819fs, P1792fs, P1814fs	Clark-Baraitser syndrome	Pathogenic (Dec 20, 2022)	criteria provided, single submitter
Select item 180622728.	NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val) GRCh37: Chr2:230653563 GRCh38: Chr2:229788847	TRIP12	I1252V, I1522V, I1523V, I1550V, I1555V, I1563V, I1570V, I1571V, I1592V, I1593V, I1597V, I1598V	Clark-Baraitser syndrome	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 180510829.	NM_001348323.3(TRIP12):c.935T>G (p.Val312Gly) GRCh37: Chr2:230723580 GRCh38: Chr2:229858864	TRIP12	V270G, V312G	Clark-Baraitser syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 171018930.	NM_001348323.3(TRIP12):c.1090C>T (p.Arg364Trp) GRCh37: Chr2:230705581 GRCh38: Chr2:229840865	TRIP12	R322W, R335W, R364W	Clark-Baraitser syndrome	Uncertain significance (Dec 1, 2021)	no assertion criteria provided
Select item 170987331.	NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter) GRCh37: Chr2:230632364-230632365 GRCh38: Chr2:229767648-229767649	TRIP12	Y1692, Y1962, Y1963, Y1990, Y1995, Y2003, Y2010, Y2011, Y2032, Y2033, Y2037, Y2038	Clark-Baraitser syndrome	Likely pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 170956832.	NM_001348323.3(TRIP12):c.4216-2A>G GRCh37: Chr2:230656783 GRCh38: Chr2:229792067	TRIP12		Clark-Baraitser syndrome	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 170929833.	NM_001348323.3(TRIP12):c.4609A>G (p.Ile1537Val) GRCh37: Chr2:230654413 GRCh38: Chr2:229789697	TRIP12	I1192V, I1462V, I1463V, I1490V, I1495V, I1503V, I1510V, I1511V, I1532V, I1533V, I1537V, I1538V	Clark-Baraitser syndrome	Likely benign (Sep 16, 2021)	criteria provided, single submitter
Select item 170920634.	NM_001348323.3(TRIP12):c.692G>C (p.Gly231Ala) GRCh37: Chr2:230723823 GRCh38: Chr2:229859107	TRIP12	G189A, G231A	Clark-Baraitser syndrome	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 170305535.	NM_001348323.3(TRIP12):c.3816+2T>A GRCh37: Chr2:230661305 GRCh38: Chr2:229796589	TRIP12		Clark-Baraitser syndrome	Pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 134389236.	NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp) GRCh37: Chr2:230652352 GRCh38: Chr2:229787636	TRIP12	R1277W, R1547W, R1548W, R1575W, R1580W, R1588W, R1595W, R1596W, R1617W, R1618W, R1622W, R1623W	not provided, Clark-Baraitser syndrome	Conflicting interpretations of pathogenicity (Jul 27, 2023)	criteria provided, conflicting interpretations
Select item 134260137.	NM_001348323.3(TRIP12):c.78A>C (p.Gln26His) GRCh37: Chr2:230744718 GRCh38: Chr2:229880002	TRIP12	Q26H	Clark-Baraitser syndrome	Uncertain significance (May 17, 2021)	criteria provided, single submitter
Select item 134251838.	NM_001348323.3(TRIP12):c.3206+408T>G GRCh37: Chr2:230666560 GRCh38: Chr2:229801844	TRIP12		Clark-Baraitser syndrome	Uncertain significance (Jul 2, 2021)	criteria provided, single submitter
Select item 134177739.	NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) GRCh37: Chr2:230723767 GRCh38: Chr2:229859051	TRIP12	A208T, A250T	Clark-Baraitser syndrome, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 133917540.	NM_001348323.3(TRIP12):c.488A>T (p.Gln163Leu) GRCh37: Chr2:230724027 GRCh38: Chr2:229859311	TRIP12	Q121L, Q163L	Clark-Baraitser syndrome	Uncertain significance	criteria provided, single submitter
Select item 133458641.	NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs) GRCh37: Chr2:230643237-230643254 GRCh38: Chr2:229778521-229778538	TRIP12	L1409fs, L1679fs, L1680fs, L1707fs, L1712fs, L1720fs, L1727fs, L1728fs, L1749fs, L1750fs, L1754fs, L1755fs	Clark-Baraitser syndrome	Likely pathogenic (Sep 29, 2021)	criteria provided, single submitter
Select item 133386542.	NM_001348323.3(TRIP12):c.3725T>C (p.Leu1242Pro) GRCh37: Chr2:230661398 GRCh38: Chr2:229796682	TRIP12	L1167P, L1173P, L1200P, L1213P, L1215P, L1216P, L1242P, L1243P, L897P	Clark-Baraitser syndrome	Uncertain significance (Apr 21, 2021)	criteria provided, single submitter
Select item 133386443.	NM_001348323.3(TRIP12):c.3434G>T (p.Gly1145Val) GRCh37: Chr2:230663639 GRCh38: Chr2:229798923	TRIP12	G1070V, G1076V, G1103V, G1116V, G1118V, G1119V, G1145V, G1146V, G800V	Clark-Baraitser syndrome	Uncertain significance (Aug 16, 2018)	criteria provided, single submitter
Select item 132628144.	NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) GRCh37: Chr2:230668818 GRCh38: Chr2:229804102	TRIP12	G581, G851, G857, G884, G897, G899, G900, G926, G927*	Clark-Baraitser syndrome	Pathogenic	no assertion criteria provided
Select item 132560145.	NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly) GRCh37: Chr2:230633401 GRCh38: Chr2:229768685	TRIP12	S1635G, S1905G, S1906G, S1933G, S1938G, S1946G, S1953G, S1954G, S1975G, S1976G, S1980G, S1981G	Clark-Baraitser syndrome	Uncertain significance (May 1, 2020)	criteria provided, single submitter
Select item 132555746.	NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu) GRCh37: Chr2:230725209 GRCh38: Chr2:229860493	TRIP12	P46L	Clark-Baraitser syndrome	Uncertain significance (Apr 24, 2020)	criteria provided, single submitter
Select item 129959147.	NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys) GRCh37: Chr2:230701674 GRCh38: Chr2:229836958	TRIP12	R345K, R358K, R387K, R42K	Clark-Baraitser syndrome	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 129454348.	NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=) GRCh37: Chr2:230668858 GRCh38: Chr2:229804142	TRIP12		not provided, Clark-Baraitser syndrome	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128879249.	NM_001348323.3(TRIP12):c.2651-25C>T GRCh37: Chr2:230668968 GRCh38: Chr2:229804252	TRIP12		not provided, Clark-Baraitser syndrome	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128550850.	NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) GRCh37: Chr2:230653626 GRCh38: Chr2:229788910	TRIP12	S1231fs, S1501fs, S1502fs, S1529fs, S1534fs, S1542fs, S1549fs, S1550fs, S1571fs, S1572fs, S1576fs, S1577fs	Clark-Baraitser syndrome	Pathogenic (Feb 3, 2021)	criteria provided, single submitter
Select item 124498751.	NM_001348323.3(TRIP12):c.2651-39A>C GRCh37: Chr2:230668982 GRCh38: Chr2:229804266	TRIP12		not provided, Clark-Baraitser syndrome	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123637552.	NM_001348323.3(TRIP12):c.1133+21del GRCh37: Chr2:230705517 GRCh38: Chr2:229840801	TRIP12		Clark-Baraitser syndrome, not provided	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122516753.	NM_001348323.3(TRIP12):c.3482+15G>A GRCh37: Chr2:230663576 GRCh38: Chr2:229798860	TRIP12		not provided, Clark-Baraitser syndrome	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116405354.	NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs) GRCh37: Chr2:230672541-230672542 GRCh38: Chr2:229807825-229807826	TRIP12	V449fs, V746fs, V752fs, V765fs, V794fs	Clark-Baraitser syndrome	Pathogenic (May 13, 2021)	no assertion criteria provided
Select item 109828855.	NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) GRCh37: Chr2:230652312 GRCh38: Chr2:229787596	TRIP12	R1290Q, R1560Q, R1561Q, R1588Q, R1593Q, R1601Q, R1608Q, R1609Q, R1630Q, R1631Q, R1635Q, R1636Q	Clark-Baraitser syndrome	Likely pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 106456756.	NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn) GRCh37: Chr2:230652288 GRCh38: Chr2:229787572	TRIP12	T1298N, T1568N, T1569N, T1596N, T1601N, T1609N, T1616N, T1617N, T1638N, T1639N, T1643N, T1644N	Clark-Baraitser syndrome	Uncertain significance (Jan 1, 2021)	criteria provided, single submitter
Select item 103139557.	NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) GRCh37: Chr2:230642131 GRCh38: Chr2:229777415	TRIP12	S1763L, S1768L, S1465L, S1736L, S1805L, S1811L, S1735L, S1783L, S1806L, S1810L, S1776L, S1784L	Clark-Baraitser syndrome	Uncertain significance (Mar 22, 2018)	criteria provided, single submitter
Select item 103139458.	NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) GRCh37: Chr2:230656744 GRCh38: Chr2:229792028	TRIP12	R1073K, R1344K, R1413K, R1419K, R1391K, R1392K, R1418K, R1343K, R1376K, R1371K, R1384K, R1414K	Clark-Baraitser syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103139359.	NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val) GRCh37: Chr2:230660028 GRCh38: Chr2:229795312	TRIP12	I1204V, I1210V, I934V, I1280V, I1237V, I1250V, I1252V, I1253V, I1279V	Clark-Baraitser syndrome	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 102871060.	NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu) GRCh37: Chr2:230723526 GRCh38: Chr2:229858810	TRIP12	S288L, S301L, S330L	Clark-Baraitser syndrome	Uncertain significance (Jan 15, 2019)	criteria provided, single submitter
Select item 102870961.	NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val) GRCh37: Chr2:230723812 GRCh38: Chr2:229859096	TRIP12	I193V, I235V	Clark-Baraitser syndrome	Uncertain significance (Jun 6, 2019)	criteria provided, single submitter
Select item 102870862.	NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs) GRCh37: Chr2:230642100-230642101 GRCh38: Chr2:229777384-229777385	TRIP12	A1476fs, A1816fs, A1774fs, A1795fs, A1746fs, A1747fs, A1787fs, A1794fs, A1779fs, A1817fs, A1821fs, A1822fs	Clark-Baraitser syndrome	Pathogenic (Apr 23, 2019)	criteria provided, single submitter
Select item 102870763.	NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val) GRCh37: Chr2:230643205 GRCh38: Chr2:229778489	TRIP12	M1728V, M1765V, M1766V, M1770V, M1695V, M1723V, M1736V, M1744V, M1425V, M1696V, M1743V, M1771V	Clark-Baraitser syndrome	Uncertain significance (Jul 9, 2020)	criteria provided, single submitter
Select item 99807864.	NM_001348323.3(TRIP12):c.4838+2T>G GRCh37: Chr2:230653512 GRCh38: Chr2:229788796	TRIP12		Clark-Baraitser syndrome	Likely pathogenic (Jan 22, 2021)	criteria provided, single submitter
Select item 99795065.	NM_001348323.3(TRIP12):c.399dup (p.Pro134fs) GRCh37: Chr2:230724115-230724116 GRCh38: Chr2:229859399-229859400	TRIP12	P134fs, P92fs	Clark-Baraitser syndrome	Pathogenic	criteria provided, single submitter
Select item 99696366.	NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe) GRCh37: Chr2:230675746 GRCh38: Chr2:229811030	TRIP12	V346F, V643F, V649F, V662F, V691F	Clark-Baraitser syndrome	Uncertain significance (Apr 20, 2020)	criteria provided, single submitter
Select item 98586267.	NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) GRCh37: Chr2:230662539-230662540 GRCh38: Chr2:229797823-229797824	TRIP12	I1089fs, I1095fs, I1122fs, I1135fs, I1137fs, I1138fs, I1164fs, I1165fs, I819fs	Inborn genetic diseases, See cases, Clark-Baraitser syndrome, not provided	Pathogenic (Jul 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98464068.	NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) GRCh37: Chr2:230632352 GRCh38: Chr2:229767636	TRIP12	P1696L, P1966L, P1967L, P1994L, P1999L, P2007L, P2014L, P2015L, P2036L, P2037L, P2041L, P2042L	Clark-Baraitser syndrome	Likely pathogenic (Apr 3, 2020)	no assertion criteria provided
Select item 97589969.	NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter) GRCh37: Chr2:230632290 GRCh38: Chr2:229767574	TRIP12	Q1717, Q1987, Q1988, Q2015, Q2020, Q2028, Q2035, Q2036, Q2057, Q2058, Q2062, Q2063	Clark-Baraitser syndrome	Uncertain significance (May 2, 2018)	criteria provided, single submitter
Select item 97585970.	NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp) GRCh37: Chr2:230661349 GRCh38: Chr2:229796633	TRIP12	E1183D, E1189D, E1216D, E1229D, E1231D, E1232D, E1258D, E1259D, E913D	Clark-Baraitser syndrome	Uncertain significance (May 14, 2019)	criteria provided, single submitter
Select item 93110171.	NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg) GRCh37: Chr2:230705634 GRCh38: Chr2:229840918	TRIP12	K304R, K317R, K346R	Clark-Baraitser syndrome	Uncertain significance (Mar 5, 2019)	criteria provided, single submitter
Select item 93103272.	NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) GRCh37: Chr2:230656628-230656629 GRCh38: Chr2:229791912-229791913	TRIP12	N1410fs, N1423fs, N1382fs, N1415fs, N1430fs, N1452fs, N1453fs, N1457fs, N1112fs, N1383fs, N1431fs, N1458fs	Clark-Baraitser syndrome	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 93028473.	NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr) GRCh37: Chr2:230693978 GRCh38: Chr2:229829262	TRIP12	P461T, P116T, P413T, P419T, P432T	Clark-Baraitser syndrome	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 93027074.	NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp) GRCh37: Chr2:230675869 GRCh38: Chr2:229811153	TRIP12	N632D, N680D, N335D, N651D, N638D	Clark-Baraitser syndrome	Uncertain significance (Jan 8, 2020)	criteria provided, single submitter
Select item 87343075.	NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) GRCh37: Chr2:230661315 GRCh38: Chr2:229796599	TRIP12	S1195fs, S1201fs, S1244fs, S1271fs, S1241fs, S1243fs, S1270fs, S1228fs, S925fs	Clark-Baraitser syndrome	Likely pathogenic (Oct 23, 2019)	criteria provided, single submitter
Select item 81754876.	NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter) GRCh37: Chr2:230664098 GRCh38: Chr2:229799382	TRIP12	R1028, R1001, R1044, R1070, R1071, R725, R995, R1041, R1043*	not provided	Likely pathogenic (Mar 21, 2019)	criteria provided, single submitter
Select item 81266877.	NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter) GRCh37: Chr2:230679862 GRCh38: Chr2:229815146	TRIP12	R217, R520, R562, R514, R533*	Clark-Baraitser syndrome	Pathogenic (Jan 9, 2019)	criteria provided, single submitter
Select item 80190878.	NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala) GRCh37: Chr2:230723532 GRCh38: Chr2:229858816	TRIP12	E299A, E328A, E286A	Clark-Baraitser syndrome, not provided	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80190779.	NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter) GRCh37: Chr2:230667008 GRCh38: Chr2:229802292	TRIP12	Q1057, Q987, Q1014, Q1027, Q981, Q1056, Q1029, Q1030, Q711*	Clark-Baraitser syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80190680.	NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) GRCh37: Chr2:230652230 GRCh38: Chr2:229787514	TRIP12	D1635E, D1657E, D1662E, D1663E, D1588E, D1615E, D1628E, D1658E, D1587E, D1317E, D1620E, D1636E	Clark-Baraitser syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80190581.	NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala) GRCh37: Chr2:230632440 GRCh38: Chr2:229767724	TRIP12	T1985A, T2007A, T2008A, T2012A, T1937A, T1978A, T1986A, T1938A, T1667A, T1965A, T1970A, T2013A	Clark-Baraitser syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 62000382.	NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) GRCh37: Chr2:230636242 GRCh38: Chr2:229771526	TRIP12	P1892L, P1907L, P1935L, P1860L, P1900L, P1908L, P1930L, P1589L, P1859L, P1887L, P1929L, P1934L	Clark-Baraitser syndrome	Conflicting interpretations of pathogenicity (Jun 24, 2022)	criteria provided, conflicting interpretations
Select item 61998283.	NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter) GRCh37: Chr2:230656679 GRCh38: Chr2:229791963	TRIP12	Q1413, Q1393, Q1414, Q1436, Q1441, Q1435, Q1095, Q1365, Q1366, Q1440, Q1398, Q1406	Clark-Baraitser syndrome	Pathogenic (May 15, 2017)	criteria provided, single submitter
Select item 48924284.	NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) GRCh37: Chr2:230679895 GRCh38: Chr2:229815179	TRIP12	R503, R551, R206, R509, R522*	not provided, Clark-Baraitser syndrome	Pathogenic (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 44614185.	NM_001348323.3(TRIP12):c.3968+1G>A GRCh37: Chr2:230659894 GRCh38: Chr2:229795178	TRIP12		Clark-Baraitser syndrome	Pathogenic (Apr 15, 2020)	no assertion criteria provided
Select item 44614086.	NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs) GRCh37: Chr2:230666969-230666970 GRCh38: Chr2:229802253-229802254	TRIP12	G1000fs, G1042fs, G724fs, G1070fs, G1040fs, G1069fs, G1027fs, G1043fs, G994fs	Clark-Baraitser syndrome	Pathogenic (Apr 15, 2020)	no assertion criteria provided
Select item 44613987.	NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) GRCh37: Chr2:230661451-230661452 GRCh38: Chr2:229796735-229796736	TRIP12		not provided	Pathogenic (Jun 15, 2020)	criteria provided, single submitter
Select item 44613888.	NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) GRCh37: Chr2:230650558 GRCh38: Chr2:229785842	TRIP12	R1628Q, R1643Q, R1325Q, R1596Q, R1665Q, R1595Q, R1623Q, R1636Q, R1666Q, R1644Q, R1670Q, R1671Q	Clark-Baraitser syndrome	Pathogenic (Apr 15, 2020)	no assertion criteria provided
Select item 44613789.	NM_001348323.3(TRIP12):c.3482+1G>A GRCh37: Chr2:230663590 GRCh38: Chr2:229798874	TRIP12		Clark-Baraitser syndrome	Pathogenic (Apr 15, 2020)	no assertion criteria provided
Select item 44613690.	NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) GRCh37: Chr2:230723928-230723929 GRCh38: Chr2:229859212-229859213	TRIP12	S154fs, S196fs	Clark-Baraitser syndrome	Pathogenic (Apr 15, 2020)	no assertion criteria provided

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Items: 90