ClinVar for MedGen (Select 355264) - ClinVar

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Items: 85

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25810741.	NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs) GRCh37: Chr17:42929843-42929849 GRCh38: Chr17:44852475-44852481	EFTUD2	F846fs, F871fs, F881fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Nov 15, 2019)	criteria provided, single submitter
Select item 25769782.	NM_004247.4(EFTUD2):c.351-2A>G GRCh37: Chr17:42961094 GRCh38: Chr17:44883726	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (May 17, 2023)	criteria provided, single submitter
Select item 25723813.	NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs) GRCh37: Chr17:42934461-42934462 GRCh38: Chr17:44857093-44857094	EFTUD2	A641fs, A666fs, A676fs	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25065434.	GRCh37/hg19 17q21.31(chr17:42929777-42937911) GRCh37: Chr17:42929777-42937911	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 24982205.	NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter) GRCh37: Chr17:42957947-42957948 GRCh38: Chr17:44880579-44880580	EFTUD2	Y163, Y188, Y198*	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Apr 11, 2023)	criteria provided, single submitter
Select item 24421876.	NM_004247.4(EFTUD2):c.793del (p.Leu265fs) GRCh37: Chr17:42953378 GRCh38: Chr17:44876010	EFTUD2	L230fs, L255fs, L265fs	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 24411897.	NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys) GRCh37: Chr17:42937892 GRCh38: Chr17:44860524	EFTUD2	R508C, R533C, R543C	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jun 16, 2021)	criteria provided, single submitter
Select item 24411888.	NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr) GRCh37: Chr17:42964103 GRCh38: Chr17:44886735	EFTUD2	D41Y, D6Y	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Apr 21, 2021)	criteria provided, single submitter
Select item 24411879.	NM_004247.4(EFTUD2):c.702+3_702+4delinsAG GRCh37: Chr17:42956920-42956921 GRCh38: Chr17:44879552-44879553	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 244118610.	NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg) GRCh37: Chr17:42931646 GRCh38: Chr17:44854278	EFTUD2	C745R, C770R, C780R	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 244118511.	NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln) GRCh37: Chr17:42953449 GRCh38: Chr17:44876081	EFTUD2	R206Q, R231Q, R241Q	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Sep 27, 2019)	criteria provided, single submitter
Select item 243178812.	NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala) GRCh37: Chr17:42942406 GRCh38: Chr17:44865038	EFTUD2	P358A, P383A, P393A	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jan 4, 2023)	criteria provided, single submitter
Select item 243013313.	NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn) GRCh37: Chr17:42945187 GRCh38: Chr17:44867819	EFTUD2	K344N, K369N, K379N	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Jan 23, 2023)	criteria provided, single submitter
Select item 180578414.	NM_004247.4(EFTUD2):c.2133-2A>G GRCh37: Chr17:42932052 GRCh38: Chr17:44854684	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 180576415.	NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser) GRCh37: Chr17:42945680 GRCh38: Chr17:44868312	EFTUD2	G310S, G335S, G345S	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 180492616.	NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs) GRCh37: Chr17:42959064-42959074 GRCh38: Chr17:44881696-44881706	EFTUD2	I135fs, I160fs, I170fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172725717.	NM_004247.4(EFTUD2):c.1286-2del GRCh37: Chr17:42941152 GRCh38: Chr17:44863784	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Nov 3, 2022)	no assertion criteria provided
Select item 170851018.	NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val) GRCh37: Chr17:42945207 GRCh38: Chr17:44867839	EFTUD2	I338V, I363V, I373V	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 170653219.	NM_004247.4(EFTUD2):c.423del (p.Lys142fs) GRCh37: Chr17:42961020 GRCh38: Chr17:44883652	EFTUD2	K107fs, K142fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 170333720.	NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter) GRCh37: Chr17:42937814 GRCh38: Chr17:44860446	EFTUD2	R534, R559, R569*	not provided, Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170296621.	NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter) GRCh37: Chr17:42931984 GRCh38: Chr17:44854616	EFTUD2	W698, W723, W733*	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 169939422.	NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) GRCh37: Chr17:42940103 GRCh38: Chr17:44862735	EFTUD2	R494C, R519C, R529C	Inborn genetic diseases, Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Aug 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 169888923.	NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met) GRCh37: Chr17:42934455 GRCh38: Chr17:44857087	EFTUD2	T643M, T668M, T678M	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Aug 6, 2020)	criteria provided, single submitter
Select item 169872524.	NM_004247.4(EFTUD2):c.1719+1G>A GRCh37: Chr17:42937799 GRCh38: Chr17:44860431	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Jun 10, 2020)	criteria provided, single submitter
Select item 169447625.	NM_004247.4(EFTUD2):c.1607+3A>G GRCh37: Chr17:42940078 GRCh38: Chr17:44862710	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	criteria provided, single submitter
Select item 168719726.	NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter) GRCh37: Chr17:42932017 GRCh38: Chr17:44854649	EFTUD2	Y687, Y712, Y722*	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 167993127.	NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile) GRCh37: Chr17:42971887 GRCh38: Chr17:44894519	EFTUD2	M1I	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic	no assertion criteria provided
Select item 167967928.	NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) GRCh37: Chr17:42934494 GRCh38: Chr17:44857126	EFTUD2	T630M, T655M, T665M	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (May 24, 2021)	criteria provided, single submitter
Select item 167853329.	NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp) GRCh37: Chr17:42937870 GRCh38: Chr17:44860502	EFTUD2	V515D, V540D, V550D	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 145461130.	NM_004247.4(EFTUD2):c.2562-2del GRCh37: Chr17:42929932 GRCh38: Chr17:44852564	EFTUD2		not provided, Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134327031.	NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His) GRCh37: Chr17:42936506 GRCh38: Chr17:44859138	EFTUD2	L600H, L625H, L635H	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 134256132.	NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) GRCh37: Chr17:42971827 GRCh38: Chr17:44894459	EFTUD2	E21D	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 133327533.	NM_004247.4(EFTUD2):c.870-1G>T GRCh37: Chr17:42949939 GRCh38: Chr17:44872571	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132432234.	NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter) GRCh37: Chr17:42936464 GRCh38: Chr17:44859096	EFTUD2	S614, S639, S649*	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 132432135.	NM_004247.4(EFTUD2):c.1286-2A>G GRCh37: Chr17:42941152 GRCh38: Chr17:44863784	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 128543836.	NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Nov 3, 2020)	criteria provided, single submitter
Select item 125537637.	NM_004247.4(EFTUD2):c.1059-31T>C GRCh37: Chr17:42945296 GRCh38: Chr17:44867928	EFTUD2		not provided, Mandibulofacial dysostosis-microcephaly syndrome	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125404738.	NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp) GRCh37: Chr17:42936477 GRCh38: Chr17:44859109	EFTUD2	R610W, R635W, R645W	Mandibulofacial dysostosis-microcephaly syndrome, not provided	Uncertain significance (Jan 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116404139.	NM_004247.4(EFTUD2):c.870-5_870-4del GRCh37: Chr17:42949942-42949943 GRCh38: Chr17:44872574-44872575	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (May 13, 2021)	no assertion criteria provided
Select item 109868840.	NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) GRCh37: Chr17:42956928 GRCh38: Chr17:44879560	EFTUD2	E198G, E223G, E233G	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jun 25, 2020)	criteria provided, single submitter
Select item 102980541.	NM_004247.4(EFTUD2):c.378del (p.Glu127fs) GRCh37: Chr17:42961065 GRCh38: Chr17:44883697	EFTUD2	E127fs, E92fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Apr 11, 2019)	criteria provided, single submitter
Select item 102980442.	NM_004247.4(EFTUD2):c.1331del (p.Gly444fs) GRCh37: Chr17:42941105 GRCh38: Chr17:44863737	EFTUD2	G409fs, G434fs, G444fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Mar 27, 2019)	criteria provided, single submitter
Select item 98491943.	NM_004247.4(EFTUD2):c.2562-2_2562-1del GRCh37: Chr17:42929931-42929932 GRCh38: Chr17:44852563-44852564	EFTUD2		not provided, Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic/Likely pathogenic (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98310144.	NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) GRCh37: Chr17:42940263 GRCh38: Chr17:44862895	EFTUD2	M440I, M465I, M475I	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 98303045.	NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) GRCh37: Chr17:42936453 GRCh38: Chr17:44859085	EFTUD2	I618L, I643L, I653L	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97787046.	NM_004247.4(EFTUD2):c.334dup (p.Thr112fs) GRCh37: Chr17:42962639-42962640 GRCh38: Chr17:44885271-44885272	EFTUD2	T112fs, T77fs	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	no assertion criteria provided
Select item 97782747.	NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter) GRCh37: Chr17:42953343 GRCh38: Chr17:44875975	EFTUD2	Y241, Y266, Y276*	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	no assertion criteria provided
Select item 97782548.	NM_004247.4(EFTUD2):c.1332del (p.Ala445fs) GRCh37: Chr17:42941104 GRCh38: Chr17:44863736	EFTUD2	A410fs, A435fs, A445fs	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	no assertion criteria provided
Select item 97782249.	NM_004247.4(EFTUD2):c.426+1dup GRCh37: Chr17:42961015-42961016 GRCh38: Chr17:44883647-44883648	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	no assertion criteria provided
Select item 97321950.	NM_004247.4(EFTUD2):c.106-1G>C GRCh37: Chr17:42964119 GRCh38: Chr17:44886751	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Feb 2, 2018)	criteria provided, single submitter
Select item 93192351.	NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn) GRCh37: Chr17:42962680 GRCh38: Chr17:44885312	EFTUD2	K63N, K98N	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Apr 4, 2019)	criteria provided, single submitter
Select item 93179552.	NM_004247.4(EFTUD2):c.2600del (p.Pro867fs) GRCh37: Chr17:42929892 GRCh38: Chr17:44852524	EFTUD2	P832fs, P867fs, P857fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Oct 2, 2019)	criteria provided, single submitter
Select item 93089753.	NM_004247.4(EFTUD2):c.1861-9_1861-7del GRCh37: Chr17:42936556-42936558 GRCh38: Chr17:44859188-44859190	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Jan 28, 2020)	criteria provided, single submitter
Select item 92943054.	NM_004247.4(EFTUD2):c.702G>T (p.Gly234=) GRCh37: Chr17:42956924 GRCh38: Chr17:44879556	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (May 18, 2020)	no assertion criteria provided
Select item 81258655.	NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) GRCh37: Chr17:42937391 GRCh38: Chr17:44860023	EFTUD2	K546fs, K571fs, K581fs	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic	no assertion criteria provided
Select item 80342856.	NM_004247.4(EFTUD2):c.882del (p.Asp295fs) GRCh37: Chr17:42949926 GRCh38: Chr17:44872558	EFTUD2	D260fs, D285fs, D295fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 69468357.	NM_004247.4(EFTUD2):c.1414-2A>G GRCh37: Chr17:42940276 GRCh38: Chr17:44862908	EFTUD2		Neurodevelopmental disorder, Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic/Likely pathogenic (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69030458.	NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) GRCh37: Chr17:42931649 GRCh38: Chr17:44854281	EFTUD2	L744F, L769F, L779F	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Aug 13, 2019)	criteria provided, single submitter
Select item 62047559.	NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) GRCh37: Chr17:42945264 GRCh38: Chr17:44867896	EFTUD2	R354, R319, R344*	not provided, Mandibulofacial dysostosis-microcephaly syndrome, See cases	Pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56099860.	NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) GRCh37: Chr17:42930913 GRCh38: Chr17:44853545	EFTUD2	R813K, R803K, R778K	Mandibulofacial dysostosis-microcephaly syndrome	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 52286361.	NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) GRCh37: Chr17:42940121 GRCh38: Chr17:44862753	EFTUD2	Q488fs, Q523fs, Q513fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 48838862.	NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) GRCh37: Chr17:42930674 GRCh38: Chr17:44853306	EFTUD2	A816fs, A841fs, A851fs	Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Mar 31, 2017)	criteria provided, single submitter
Select item 43503363.	NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) GRCh37: Chr17:42931985 GRCh38: Chr17:44854617	EFTUD2	W733, W698, W723*	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Jan 21, 2016)	criteria provided, single submitter
Select item 43114264.	NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) GRCh37: Chr17:42937354-42937358 GRCh38: Chr17:44859986-44859990	EFTUD2	V557fs, V582fs, V592fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Jan 6, 2017)	criteria provided, single submitter
Select item 42989065.	NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter) GRCh37: Chr17:42940146 GRCh38: Chr17:44862778	EFTUD2	Y514, Y504, Y479*	not provided, Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic/Likely pathogenic (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42648166.	NM_004247.4(EFTUD2):c.1058+1G>A GRCh37: Chr17:42945654 GRCh38: Chr17:44868286	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome, Inborn genetic diseases, not provided	Pathogenic (May 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37962567.	NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) GRCh37: Chr17:42937401 GRCh38: Chr17:44860033	EFTUD2	R578, R568, R543*	Mandibulofacial dysostosis-microcephaly syndrome, not provided	Pathogenic (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26511668.	NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs) GRCh37: Chr17:42929791-42929794 GRCh38: Chr17:44852423-44852426	EFTUD2	V900fs, V865fs, V890fs	Mandibulofacial dysostosis-microcephaly syndrome, not provided	Pathogenic (Jan 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 25925169.	NM_004247.4(EFTUD2):c.106-17C>T GRCh37: Chr17:42964135 GRCh38: Chr17:44886767	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome, not specified, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25925070.	NM_004247.4(EFTUD2):c.1058+3_1058+7del GRCh37: Chr17:42945648-42945652 GRCh38: Chr17:44868280-44868284	EFTUD2		not specified, not provided, Mandibulofacial dysostosis-microcephaly syndrome	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21692471.	NM_004247.4(EFTUD2):c.2045+2T>G GRCh37: Chr17:42934441 GRCh38: Chr17:44857073	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Likely pathogenic (Apr 29, 2014)	criteria provided, single submitter
Select item 21091572.	NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) GRCh37: Chr17:42941138-42941139 GRCh38: Chr17:44863770-44863771	EFTUD2	M433fs, M398fs, M423fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 21091473.	NM_004247.4(EFTUD2):c.1149+1G>C GRCh37: Chr17:42945174 GRCh38: Chr17:44867806	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Oct 28, 2014)	criteria provided, single submitter
Select item 20338674.	NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) GRCh37: Chr17:42953406-42953407 GRCh38: Chr17:44876038-44876039	EFTUD2	C256fs, C221fs, C246fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (May 18, 2015)	no assertion criteria provided
Select item 12897475.	NM_004247.4(EFTUD2):c.994+6C>T GRCh37: Chr17:42949808 GRCh38: Chr17:44872440	EFTUD2		not provided, not specified, Mandibulofacial dysostosis-microcephaly syndrome	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12897376.	NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) GRCh37: Chr17:42953409 GRCh38: Chr17:44876041	EFTUD2		not provided, not specified	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12897277.	NM_004247.4(EFTUD2):c.426+8G>A GRCh37: Chr17:42961009 GRCh38: Chr17:44883641	EFTUD2		not specified, not provided, Mandibulofacial dysostosis-microcephaly syndrome	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4004878.	NM_004247.4(EFTUD2):c.2823+1del GRCh37: Chr17:42929077 GRCh38: Chr17:44851709	EFTUD2		Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Dec 1, 2012)	no assertion criteria provided
Select item 4004779.	NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) GRCh37: Chr17:42957003 GRCh38: Chr17:44879635	EFTUD2	H208R, H198R, H173R	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Dec 1, 2012)	no assertion criteria provided
Select item 3164280.	NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) GRCh37: Chr17:42930729 GRCh38: Chr17:44853361	EFTUD2	Y832, Y797, Y822*	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (May 4, 2012)	no assertion criteria provided
Select item 3040481.	NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) GRCh37: Chr17:42936500 GRCh38: Chr17:44859132	EFTUD2	L637R, L602R, L627R	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Feb 10, 2012)	no assertion criteria provided
Select item 3040382.	NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) GRCh37: Chr17:42930732 GRCh38: Chr17:44853364	EFTUD2	Y831, Y821, Y796*	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Feb 10, 2012)	no assertion criteria provided
Select item 3040283.	NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) GRCh37: Chr17:42937373-42937374 GRCh38: Chr17:44860005-44860006	EFTUD2	V552fs, V587fs, V577fs	Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Feb 10, 2012)	no assertion criteria provided
Select item 3040184.	NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) GRCh37: Chr17:42929131 GRCh38: Chr17:44851763	EFTUD2	Q924, Q914, Q889*	not provided	Pathogenic (Feb 3, 2020)	criteria provided, single submitter
Select item 3040085.	NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) GRCh37: Chr17:42953387 GRCh38: Chr17:44876019	EFTUD2	R262W, R227W, R252W	not provided, Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 85