ClinVar for MedGen (Select 4297) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24417801.	NM_001379200.1(TBX1):c.437+1G>C GRCh37: Chr22:19748804 GRCh38: Chr22:19761281	TBX1		DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot	Likely pathogenic (Dec 1, 2022)	criteria provided, single submitter
Select item 24239812.	NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly) GRCh37: Chr22:19754023-19754024 GRCh38: Chr22:19766500-19766501	TBX1		DiGeorge syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 24203633.	NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp) GRCh37: Chr22:19754129 GRCh38: Chr22:19766606	TBX1	E409D, E418D	DiGeorge syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 24172144.	NM_001379200.1(TBX1):c.485T>C (p.Met162Thr) GRCh37: Chr22:19750811 GRCh38: Chr22:19763288	TBX1	M153T, M162T	DiGeorge syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 24165755.	NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu) GRCh37: Chr22:19754131 GRCh38: Chr22:19766608	TBX1	P410L, P419L	DiGeorge syndrome	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 24152316.	NM_001379200.1(TBX1):c.1239G>C (p.Ala413_Pro414=) GRCh37: Chr22:19754114 GRCh38: Chr22:19766591	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 24142637.	NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala) GRCh37: Chr22:19751754 GRCh38: Chr22:19764231	TBX1	P197A, P206A	DiGeorge syndrome	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 24133768.	NM_001379200.1(TBX1):c.935+15C>T GRCh37: Chr22:19753363 GRCh38: Chr22:19765840	TBX1		DiGeorge syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 22020419.	NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla) GRCh37: Chr22:19754291-19754292 GRCh38: Chr22:19766768-19766769	TBX1		DiGeorge syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 220144710.	NM_001379200.1(TBX1):c.843G>A (p.Ala281_Val282=) GRCh37: Chr22:19752612 GRCh38: Chr22:19765089	TBX1		DiGeorge syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 220036111.	NM_001379200.1(TBX1):c.1041G>A (p.Ala347_Ala348=) GRCh37: Chr22:19753916 GRCh38: Chr22:19766393	TBX1		DiGeorge syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 220013512.	NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys) GRCh37: Chr22:19752565 GRCh38: Chr22:19765042	TBX1	E266K, E257K	DiGeorge syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 219836713.	NM_001379200.1(TBX1):c.258G>C (p.Gly86_Ala87=) GRCh37: Chr22:19748624 GRCh38: Chr22:19761101	TBX1		DiGeorge syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 219828314.	NM_001379200.1(TBX1):c.1051C>A (p.Arg351_Arg352=) GRCh37: Chr22:19753926 GRCh38: Chr22:19766403	TBX1		DiGeorge syndrome	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 219640415.	NM_001379200.1(TBX1):c.936-15G>A GRCh37: Chr22:19753410 GRCh38: Chr22:19765887	TBX1		DiGeorge syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219581716.	NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del) GRCh37: Chr22:19754232-19754246 GRCh38: Chr22:19766709-19766723	TBX1		DiGeorge syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 219557517.	NM_001379200.1(TBX1):c.1380T>A (p.His460Gln) GRCh37: Chr22:19754255 GRCh38: Chr22:19766732	TBX1	H460Q, H451Q	DiGeorge syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 219497118.	NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu) GRCh37: Chr22:19748587 GRCh38: Chr22:19761064	TBX1	P65L, P74L	DiGeorge syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 219485319.	NM_001379200.1(TBX1):c.762T>C (p.Tyr254_Val255=) GRCh37: Chr22:19752531 GRCh38: Chr22:19765008	TBX1		DiGeorge syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 219474920.	NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp) GRCh37: Chr22:19748470 GRCh38: Chr22:19760947	TBX1	G35D, G26D	DiGeorge syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 219460121.	NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp) GRCh37: Chr22:19750864 GRCh38: Chr22:19763341	TBX1	R171W, R180W	DiGeorge syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 219440322.	NM_001379200.1(TBX1):c.936-16C>A GRCh37: Chr22:19753409 GRCh38: Chr22:19765886	TBX1		DiGeorge syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 219300123.	NM_001379200.1(TBX1):c.935+14C>T GRCh37: Chr22:19753362 GRCh38: Chr22:19765839	TBX1		DiGeorge syndrome	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 219180224.	NM_001379200.1(TBX1):c.935+17del GRCh37: Chr22:19753365 GRCh38: Chr22:19765842	TBX1		DiGeorge syndrome	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 218617225.	NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln) GRCh37: Chr22:19754151 GRCh38: Chr22:19766628	TBX1	K417Q, K426Q	DiGeorge syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 218577026.	NM_001379200.1(TBX1):c.942G>T (p.Arg314_Asn315=) GRCh37: Chr22:19753431 GRCh38: Chr22:19765908	TBX1		DiGeorge syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 218317327.	NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro) GRCh37: Chr22:19754343 GRCh38: Chr22:19766820	TBX1	S490P, S481P	DiGeorge syndrome	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 218304928.	NM_001379200.1(TBX1):c.1428C>T (p.Ala476_Ala477=) GRCh37: Chr22:19754303 GRCh38: Chr22:19766780	TBX1		DiGeorge syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 218138929.	NM_001379200.1(TBX1):c.712-12C>T GRCh37: Chr22:19752469 GRCh38: Chr22:19764946	TBX1		DiGeorge syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 218073330.	NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu) GRCh37: Chr22:19753439 GRCh38: Chr22:19765916	TBX1	R317L, R308L	DiGeorge syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 218035731.	NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys) GRCh37: Chr22:19748434 GRCh38: Chr22:19760911	TBX1	T14K, T23K	DiGeorge syndrome	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 217677332.	NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr) GRCh37: Chr22:19748551 GRCh38: Chr22:19761028	TBX1	C62Y, C53Y	DiGeorge syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 217604733.	NM_001379200.1(TBX1):c.126C>T (p.Pro42_Gly43=) GRCh37: Chr22:19748492 GRCh38: Chr22:19760969	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217437034.	NM_001379200.1(TBX1):c.1036+11G>A GRCh37: Chr22:19753536 GRCh38: Chr22:19766013	TBX1		DiGeorge syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 217157035.	NM_001379200.1(TBX1):c.437+18C>G GRCh37: Chr22:19748821 GRCh38: Chr22:19761298	TBX1		DiGeorge syndrome	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 217087736.	NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis) GRCh37: Chr22:19754243-19754244 GRCh38: Chr22:19766720-19766721	TBX1		DiGeorge syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 216948937.	NM_001379200.1(TBX1):c.432C>T (p.Ala144_Gly145=) GRCh37: Chr22:19748798 GRCh38: Chr22:19761275	TBX1		DiGeorge syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 216563838.	NM_001379200.1(TBX1):c.306C>T (p.Cys102_Ala103=) GRCh37: Chr22:19748672 GRCh38: Chr22:19761149	TBX1		DiGeorge syndrome	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 216452439.	NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp) GRCh37: Chr22:19748656 GRCh38: Chr22:19761133	TBX1	G88D, G97D	DiGeorge syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 216376740.	NM_001379200.1(TBX1):c.627T>C (p.Pro209_Ala210=) GRCh37: Chr22:19751765 GRCh38: Chr22:19764242	TBX1		DiGeorge syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 216309241.	NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg) GRCh37: Chr22:19748415 GRCh38: Chr22:19760892	TBX1	C17R	DiGeorge syndrome	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 216146142.	NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr) GRCh37: Chr22:19748481 GRCh38: Chr22:19760958	TBX1	A30T, A39T	DiGeorge syndrome	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 216085243.	NM_001379200.1(TBX1):c.1037-17C>G GRCh37: Chr22:19753895 GRCh38: Chr22:19766372	TBX1		DiGeorge syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 216053244.	NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys) GRCh37: Chr22:19752530 GRCh38: Chr22:19765007	TBX1	Y245C, Y254C	DiGeorge syndrome	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 215828945.	NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp) GRCh37: Chr22:19748569 GRCh38: Chr22:19761046	TBX1	G59D, G68D	DiGeorge syndrome	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 215606646.	NM_001379200.1(TBX1):c.897C>T (p.Pro299_Phe300=) GRCh37: Chr22:19753310 GRCh38: Chr22:19765787	TBX1		DiGeorge syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215456247.	NM_001379200.1(TBX1):c.639G>A (p.Ala213_Gln214=) GRCh37: Chr22:19751777 GRCh38: Chr22:19764254	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215448148.	NM_001379200.1(TBX1):c.868-4G>A GRCh37: Chr22:19753277 GRCh38: Chr22:19765754	TBX1		DiGeorge syndrome	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 215158449.	NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del) GRCh37: Chr22:19748580-19748582 GRCh38: Chr22:19761057-19761059	TBX1	P67del, P76del	DiGeorge syndrome	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 214870850.	NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla) GRCh37: Chr22:19754285-19754286 GRCh38: Chr22:19766762-19766763	TBX1		DiGeorge syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 214683651.	NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del) GRCh37: Chr22:19754340-19754342 GRCh38: Chr22:19766817-19766819	TBX1	S481del, S490del	DiGeorge syndrome	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 214678552.	NM_001379200.1(TBX1):c.92G>T (p.Gly31Val) GRCh37: Chr22:19748458 GRCh38: Chr22:19760935	TBX1	G31V, G22V	DiGeorge syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 214409753.	NM_001379200.1(TBX1):c.1434T>G (p.Ala478_Ala479=) GRCh37: Chr22:19754309 GRCh38: Chr22:19766786	TBX1		DiGeorge syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 214298854.	NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu) GRCh37: Chr22:19748536 GRCh38: Chr22:19761013	TBX1	P57L, P48L	DiGeorge syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214242555.	NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg) GRCh37: Chr22:19748794 GRCh38: Chr22:19761271	TBX1	K134R, K143R	DiGeorge syndrome	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 214101756.	NM_001379200.1(TBX1):c.1067G>A (p.Arg356His) GRCh37: Chr22:19753942 GRCh38: Chr22:19766419	TBX1	R347H, R356H	DiGeorge syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 214031457.	NM_001379200.1(TBX1):c.507G>A (p.Met169Ile) GRCh37: Chr22:19750833 GRCh38: Chr22:19763310	TBX1	M160I, M169I	DiGeorge syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 214002358.	NM_001379200.1(TBX1):c.990G>A (p.Ser330_Arg331=) GRCh37: Chr22:19753479 GRCh38: Chr22:19765956	TBX1		DiGeorge syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 213987259.	NM_001379200.1(TBX1):c.868-6C>T GRCh37: Chr22:19753275 GRCh38: Chr22:19765752	TBX1		DiGeorge syndrome	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213924560.	NM_001379200.1(TBX1):c.909C>T (p.Gly303_Phe304=) GRCh37: Chr22:19753322 GRCh38: Chr22:19765799	TBX1		DiGeorge syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 213572461.	NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg) GRCh37: Chr22:19754158 GRCh38: Chr22:19766635	TBX1	P419R, P428R	DiGeorge syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213319162.	NM_001379200.1(TBX1):c.201dup (p.Gly68fs) GRCh37: Chr22:19748562-19748563 GRCh38: Chr22:19761039-19761040	TBX1	G59fs, G68fs	DiGeorge syndrome	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 211569263.	NM_001379200.1(TBX1):c.1341G>T (p.Leu447_Pro448=) GRCh37: Chr22:19754216 GRCh38: Chr22:19766693	TBX1		DiGeorge syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 210661664.	NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del) GRCh37: Chr22:19753440-19753451 GRCh38: Chr22:19765917-19765928	TBX1		DiGeorge syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210041265.	NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly) GRCh37: Chr22:19753945 GRCh38: Chr22:19766422	TBX1	D348G, D357G	DiGeorge syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209359566.	NM_001379200.1(TBX1):c.156C>A (p.Pro52_Pro53=) GRCh37: Chr22:19748522 GRCh38: Chr22:19760999	TBX1		DiGeorge syndrome	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 209222967.	NM_001379200.1(TBX1):c.483C>G (p.Pro161_Met162=) GRCh37: Chr22:19750809 GRCh38: Chr22:19763286	TBX1		DiGeorge syndrome	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 209072468.	NM_001379200.1(TBX1):c.868-7C>T GRCh37: Chr22:19753274 GRCh38: Chr22:19765751	TBX1		DiGeorge syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209063769.	NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile) GRCh37: Chr22:19753964-19753965 GRCh38: Chr22:19766441-19766442	TBX1	L364I, L355I	DiGeorge syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 208894370.	NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn) GRCh37: Chr22:19753525 GRCh38: Chr22:19766002	TBX1	D337N, D346N, G337R, G337S	DiGeorge syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 208884271.	NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser) GRCh37: Chr22:19750796 GRCh38: Chr22:19763273	TBX1	F157S, F148S	DiGeorge syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208656672.	NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del) GRCh37: Chr22:19748523-19748582 GRCh38: Chr22:19761000-19761059	TBX1		DiGeorge syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 208359373.	NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu) GRCh37: Chr22:19748593 GRCh38: Chr22:19761070	TBX1	P67L, P76L	DiGeorge syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 207959374.	NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser) GRCh37: Chr22:19748625 GRCh38: Chr22:19761102	TBX1	A78S, A87S	DiGeorge syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 207836775.	NM_001379200.1(TBX1):c.230A>T (p.His77Leu) GRCh37: Chr22:19748596 GRCh38: Chr22:19761073	TBX1	H77L, H68L	DiGeorge syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 207823176.	NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr) GRCh37: Chr22:19754141-19754142 GRCh38: Chr22:19766618-19766619	TBX1		DiGeorge syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 207637577.	NM_001379200.1(TBX1):c.1260G>A (p.Leu420_His421=) GRCh37: Chr22:19754135 GRCh38: Chr22:19766612	TBX1		DiGeorge syndrome	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 207484878.	NM_001379200.1(TBX1):c.1161C>G (p.Gly387_Ala388=) GRCh37: Chr22:19754036 GRCh38: Chr22:19766513	TBX1		DiGeorge syndrome	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 206660079.	NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla) GRCh37: Chr22:19754309-19754310 GRCh38: Chr22:19766786-19766787	TBX1		DiGeorge syndrome	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 206541080.	NM_001379200.1(TBX1):c.1410A>G (p.Pro470_Ala471=) GRCh37: Chr22:19754285 GRCh38: Chr22:19766762	TBX1		DiGeorge syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 206378681.	NM_001379200.1(TBX1):c.935+19G>C GRCh37: Chr22:19753367 GRCh38: Chr22:19765844	TBX1		DiGeorge syndrome	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 205878782.	NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp) GRCh37: Chr22:19748578 GRCh38: Chr22:19761055	TBX1	G62D, G71D	DiGeorge syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205642083.	NM_001379200.1(TBX1):c.104G>T (p.Gly35Val) GRCh37: Chr22:19748470 GRCh38: Chr22:19760947	TBX1	G26V, G35V	DiGeorge syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 205499684.	NM_001379200.1(TBX1):c.1356C>T (p.Gly452_His453=) GRCh37: Chr22:19754231 GRCh38: Chr22:19766708	TBX1		DiGeorge syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 205362185.	NM_001379200.1(TBX1):c.1037-14G>T GRCh37: Chr22:19753898 GRCh38: Chr22:19766375	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 205359286.	NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del) GRCh37: Chr22:19754295-19754303 GRCh38: Chr22:19766772-19766780	TBX1		DiGeorge syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 204788587.	NM_001379200.1(TBX1):c.1095G>A (p.Gly365_Asp366=) GRCh37: Chr22:19753970 GRCh38: Chr22:19766447	TBX1		DiGeorge syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 204741088.	NM_001379200.1(TBX1):c.1037-12C>T GRCh37: Chr22:19753900 GRCh38: Chr22:19766377	TBX1		DiGeorge syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 204440289.	NM_001379200.1(TBX1):c.935+16dup GRCh37: Chr22:19753359-19753360 GRCh38: Chr22:19765836-19765837	TBX1		DiGeorge syndrome	Benign (May 31, 2022)	criteria provided, single submitter
Select item 204312990.	NM_001379200.1(TBX1):c.402G>C (p.Gln134His) GRCh37: Chr22:19748768 GRCh38: Chr22:19761245	TBX1	Q125H, Q134H	DiGeorge syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 204230391.	NM_001379200.1(TBX1):c.936-6C>T GRCh37: Chr22:19753419 GRCh38: Chr22:19765896	TBX1		DiGeorge syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 203884392.	NM_001379200.1(TBX1):c.660G>A (p.Val220_Ser221=) GRCh37: Chr22:19751798 GRCh38: Chr22:19764275	TBX1		DiGeorge syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 203812993.	NM_001379200.1(TBX1):c.1074G>C (p.Ala358_Gly359=) GRCh37: Chr22:19753949 GRCh38: Chr22:19766426	TBX1		DiGeorge syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 203760094.	NM_001379200.1(TBX1):c.573G>C (p.Ala191_Gly192=) GRCh37: Chr22:19751711 GRCh38: Chr22:19764188	TBX1		DiGeorge syndrome	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 203361895.	NM_001379200.1(TBX1):c.1375dup (p.Ala459fs) GRCh37: Chr22:19754249-19754250 GRCh38: Chr22:19766726-19766727	TBX1	A459fs, A450fs	DiGeorge syndrome	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 203272196.	NM_001379200.1(TBX1):c.285C>G (p.Pro95_Glu96=) GRCh37: Chr22:19748651 GRCh38: Chr22:19761128	TBX1		DiGeorge syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 203237897.	NM_001379200.1(TBX1):c.228G>T (p.Pro76_His77=) GRCh37: Chr22:19748594 GRCh38: Chr22:19761071	TBX1		DiGeorge syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 203113898.	NM_001379200.1(TBX1):c.1037-11C>T GRCh37: Chr22:19753901 GRCh38: Chr22:19766378	TBX1		DiGeorge syndrome	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 202891399.	NM_080647.1(TBX1):c.-4_6del (p.Met1fs) GRCh37: Chr22:19747162-19747171 GRCh38: Chr22:19759639-19759648	TBX1	M1fs	DiGeorge syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 2025051100.	NM_001379200.1(TBX1):c.868-19CA[3] GRCh37: Chr22:19753261-19753262 GRCh38: Chr22:19765738-19765739	TBX1		DiGeorge syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter

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