ClinVar for MedGen (Select 355264) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370488	NC_000017.11:g.44852563dup	EFTUD2	Duplication	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 3358960	NM_004247.4(EFTUD2):c.2815dup (p.Arg939fs)	EFTUD2 (R904fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3340492	NM_004247.4(EFTUD2):c.568_569del (p.Leu190fs)	EFTUD2 (L155fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3338285	NM_004247.4(EFTUD2):c.446T>A (p.Leu149Ter)	EFTUD2 (L114* +1 more)	Single nucleotide variant (nonsense +1 more)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3254591	NM_004247.4(EFTUD2):c.1833C>A (p.Asn611Lys)	EFTUD2 (N576K +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 3254577	NM_004247.4(EFTUD2):c.2389G>T (p.Ala797Ser)	EFTUD2 (A762S +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely benign
Select item 3236619	NM_004247.4(EFTUD2):c.2562-2A>G	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3065770	NM_004247.4(EFTUD2):c.1292_1293del (p.Val431fs)	EFTUD2 (V396fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3064962	NM_004247.4(EFTUD2):c.2466+2T>C	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 3062263	NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)	EFTUD2 (W674* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3062237	NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)	EFTUD2 (E205fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3062106	NM_004247.4(EFTUD2):c.1904dup (p.Tyr636fs)	EFTUD2 (Y601fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 3062104	NM_004247.4(EFTUD2):c.1783G>T (p.Val595Phe)	EFTUD2 (V560F +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 3062071	NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)	EFTUD2 (G189R +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic/Likely pathogenic
Select item 3024246	NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)	EFTUD2 (Q859fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 2921093	NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)	EFTUD2 (N576S +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2689005	NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr)	EFTUD2 (I517T +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2687899	NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)	EFTUD2 (L439fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 2671921	NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)	EFTUD2 (F735S +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 2664705	NM_004247.4(EFTUD2):c.702+2T>C	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 2663771	NM_004247.4(EFTUD2):c.766_767del (p.Cys256fs)	EFTUD2 (C221fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 2581074	NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)	EFTUD2 (F846fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 2576978	NM_004247.4(EFTUD2):c.351-2A>G	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 2572381	NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)	EFTUD2 (A641fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 2506543	GRCh37/hg19 17q21.31(chr17:42929777-42937911)	EFTUD2	Copy number loss	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 2498220	NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)	EFTUD2 (Y163* +2 more)	Duplication (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 2442187	NM_004247.4(EFTUD2):c.793del (p.Leu265fs)	EFTUD2 (L230fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 2441189	NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys)	EFTUD2 (R508C +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2441188	NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr)	EFTUD2 (D41Y +1 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2441187	NM_004247.4(EFTUD2):c.702+3_702+4delinsAG	EFTUD2	Indel (intron variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2441186	NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg)	EFTUD2 (C745R +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2441185	NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)	EFTUD2 (R206Q +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GUncertain significance
Select item 2431788	NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala)	EFTUD2 (P358A +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2430133	NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)	EFTUD2 (K344N +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1805784	NM_004247.4(EFTUD2):c.2133-2A>G	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1805764	NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)	EFTUD2 (G310S +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 1804926	NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)	EFTUD2 (I135fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 1727257	NM_004247.4(EFTUD2):c.1286-2del	EFTUD2	Deletion (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1708510	NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val)	EFTUD2 (I338V +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 1706532	NM_004247.4(EFTUD2):c.423del (p.Lys142fs)	EFTUD2 (K107fs +1 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 1703337	NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)	EFTUD2 (R534* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 1702966	NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)	EFTUD2 (W698* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 1699394	NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys)	EFTUD2 (R494C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1698889	NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met)	EFTUD2 (T643M +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1698725	NM_004247.4(EFTUD2):c.1719+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 1694476	NM_004247.4(EFTUD2):c.1607+3A>G	EFTUD2	Single nucleotide variant (intron variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1687197	NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter)	EFTUD2 (Y687* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1679931	NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)	EFTUD2 (M1I)	Single nucleotide variant (missense variant +2 more)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 1679679	NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met)	EFTUD2 (T630M +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1678533	NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp)	EFTUD2 (V515D +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1454611	NM_004247.4(EFTUD2):c.2562-2del	EFTUD2	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1343270	NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His)	EFTUD2 (L600H +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 1342561	NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp)	EFTUD2 (E21D)	Single nucleotide variant (missense variant +1 more)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 1333275	NM_004247.4(EFTUD2):c.870-1G>T	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1324322	NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter)	EFTUD2 (S614* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1324321	NM_004247.4(EFTUD2):c.1286-2A>G	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1285438	NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del	EFTUD2	Deletion	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1255376	NM_004247.4(EFTUD2):c.1059-31T>C	EFTUD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254047	NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp)	EFTUD2 (R610W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1164041	NM_004247.4(EFTUD2):c.870-5_870-4del	EFTUD2	Deletion (intron variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1098688	NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly)	EFTUD2 (E198G +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 1029805	NM_004247.4(EFTUD2):c.378del (p.Glu127fs)	EFTUD2 (E127fs +1 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 1029804	NM_004247.4(EFTUD2):c.1331del (p.Gly444fs)	EFTUD2 (G409fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 984919	NM_004247.4(EFTUD2):c.2562-2_2562-1del	EFTUD2	Deletion (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic/Likely pathogenic
Select item 983101	NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile)	EFTUD2 (M440I +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 983030	NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu)	EFTUD2 (I618L +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 977870	NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)	EFTUD2 (T112fs +1 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 977827	NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)	EFTUD2 (Y241* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 977825	NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)	EFTUD2 (A410fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 977822	NM_004247.4(EFTUD2):c.426+1dup	EFTUD2	Duplication (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 973219	NM_004247.4(EFTUD2):c.106-1G>C	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 931923	NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn)	EFTUD2 (K63N +1 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 931795	NM_004247.4(EFTUD2):c.2600del (p.Pro867fs)	EFTUD2 (P832fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 930897	NM_004247.4(EFTUD2):c.1861-9_1861-7del	EFTUD2	Deletion (intron variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 929430	NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)	EFTUD2	Single nucleotide variant (synonymous variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 812586	NM_004247.4(EFTUD2):c.1742del (p.Lys581fs)	EFTUD2 (K546fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 803428	NM_004247.4(EFTUD2):c.882del (p.Asp295fs)	EFTUD2 (D260fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 694683	NM_004247.4(EFTUD2):c.1414-2A>G	EFTUD2	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 690304	NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe)	EFTUD2 (L744F +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 620475	NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)	EFTUD2 (R354* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 560998	NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys)	EFTUD2 (R813K +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 522863	NM_004247.4(EFTUD2):c.1567del (p.Gln523fs)	EFTUD2 (Q488fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 488388	NM_004247.4(EFTUD2):c.2551del (p.Ala851fs)	EFTUD2 (A816fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 435033	NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)	EFTUD2 (W733* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 431142	NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)	EFTUD2 (V557fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 429890	NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)	EFTUD2 (Y514* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 426481	NM_004247.4(EFTUD2):c.1058+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome +2 more	GPathogenic
Select item 379625	NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter)	EFTUD2 (R578* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 265116	NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs)	EFTUD2 (V900fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 259251	NM_004247.4(EFTUD2):c.106-17C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 259250	NM_004247.4(EFTUD2):c.1058+3_1058+7del	EFTUD2	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 216924	NM_004247.4(EFTUD2):c.2045+2T>G	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 210915	NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)	EFTUD2 (M433fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 210914	NM_004247.4(EFTUD2):c.1149+1G>C	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 203386	NM_004247.4(EFTUD2):c.764dup (p.Cys256fs)	EFTUD2 (C256fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 128974	NM_004247.4(EFTUD2):c.994+6C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 128973	NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)	EFTUD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 128972	NM_004247.4(EFTUD2):c.426+8G>A	EFTUD2	Single nucleotide variant (intron variant)	Mandibulofacial dysostosis-microcephaly syndrome +2 more	GBenign
Select item 40048	NM_004247.4(EFTUD2):c.2823+1del	EFTUD2	Deletion (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 40047	NM_004247.4(EFTUD2):c.623A>G (p.His208Arg)	EFTUD2 (H208R +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic

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