ClinVar for MedGen (Select 4297) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 556

<< First< Prev

Page of 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792661.	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1 GRCh38: Chr22:18985739-21081116	AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, THAP7-AS1, TRMT2A, TSSK2, TXNRD2, UFD1, UFD1-AS1, USP41, ZDHHC8, ZNF74		DiGeorge syndrome	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25050662.	NM_080646.2(TBX1):c.1143_1149delinsTGGGTATTG (p.Phe382fs) GRCh37: Chr22:19766876-19766882 GRCh38: Chr22:19779353-19779359	TBX1	F382fs	DiGeorge syndrome, Tetralogy of Fallot, Conotruncal heart malformations, Velocardiofacial syndrome	not provided	no assertion provided
Select item 24417803.	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 24239814.	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 24203635.	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 24172146.	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 24165757.	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 24152318.	NM_001379200.1(TBX1):c.1239G>C (p.Ala413=) GRCh37: Chr22:19754114 GRCh38: Chr22:19766591	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 24142639.	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 241337610.	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 220204111.	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 220144712.	NM_001379200.1(TBX1):c.843G>A (p.Ala281=) GRCh37: Chr22:19752612 GRCh38: Chr22:19765089	TBX1		DiGeorge syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 220036113.	NM_001379200.1(TBX1):c.1041G>A (p.Ala347=) GRCh37: Chr22:19753916 GRCh38: Chr22:19766393	TBX1		DiGeorge syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 220013514.	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 219836715.	NM_001379200.1(TBX1):c.258G>C (p.Gly86=) GRCh37: Chr22:19748624 GRCh38: Chr22:19761101	TBX1		DiGeorge syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 219828316.	NM_001379200.1(TBX1):c.1051C>A (p.Arg351=) GRCh37: Chr22:19753926 GRCh38: Chr22:19766403	TBX1		DiGeorge syndrome	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 219640417.	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 219581718.	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 219557519.	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 219497120.	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 219485321.	NM_001379200.1(TBX1):c.762T>C (p.Tyr254=) GRCh37: Chr22:19752531 GRCh38: Chr22:19765008	TBX1		DiGeorge syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 219474922.	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 219460123.	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 219440324.	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 219300125.	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 219180226.	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 218617227.	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 218577028.	NM_001379200.1(TBX1):c.942G>T (p.Arg314=) GRCh37: Chr22:19753431 GRCh38: Chr22:19765908	TBX1		DiGeorge syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 218317329.	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 218304930.	NM_001379200.1(TBX1):c.1428C>T (p.Ala476=) GRCh37: Chr22:19754303 GRCh38: Chr22:19766780	TBX1		DiGeorge syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 218138931.	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 218073332.	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 218035733.	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 217677334.	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 217604735.	NM_001379200.1(TBX1):c.126C>T (p.Pro42=) GRCh37: Chr22:19748492 GRCh38: Chr22:19760969	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217437036.	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 217157037.	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 217087738.	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 216948939.	NM_001379200.1(TBX1):c.432C>T (p.Ala144=) GRCh37: Chr22:19748798 GRCh38: Chr22:19761275	TBX1		DiGeorge syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 216563840.	NM_001379200.1(TBX1):c.306C>T (p.Cys102=) GRCh37: Chr22:19748672 GRCh38: Chr22:19761149	TBX1		DiGeorge syndrome	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 216452441.	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 216376742.	NM_001379200.1(TBX1):c.627T>C (p.Pro209=) GRCh37: Chr22:19751765 GRCh38: Chr22:19764242	TBX1		DiGeorge syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 216309243.	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 216146144.	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 216085245.	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 216053246.	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 215828947.	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 215606648.	NM_001379200.1(TBX1):c.897C>T (p.Pro299=) GRCh37: Chr22:19753310 GRCh38: Chr22:19765787	TBX1		DiGeorge syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215456249.	NM_001379200.1(TBX1):c.639G>A (p.Ala213=) GRCh37: Chr22:19751777 GRCh38: Chr22:19764254	TBX1		DiGeorge syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215448150.	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 215158451.	NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del) GRCh37: Chr22:19748580-19748582 GRCh38: Chr22:19761057-19761059	TBX1	P67del, P76del	not specified, DiGeorge syndrome	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214870852.	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 214683653.	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 214678554.	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 214409755.	NM_001379200.1(TBX1):c.1434T>G (p.Ala478=) GRCh37: Chr22:19754309 GRCh38: Chr22:19766786	TBX1		DiGeorge syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 214298856.	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 214242557.	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 214101758.	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 214031459.	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 214002360.	NM_001379200.1(TBX1):c.990G>A (p.Ser330=) GRCh37: Chr22:19753479 GRCh38: Chr22:19765956	TBX1		DiGeorge syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 213987261.	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 213924562.	NM_001379200.1(TBX1):c.909C>T (p.Gly303=) GRCh37: Chr22:19753322 GRCh38: Chr22:19765799	TBX1		DiGeorge syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 213572463.	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 213319164.	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 211569265.	NM_001379200.1(TBX1):c.1341G>T (p.Leu447=) GRCh37: Chr22:19754216 GRCh38: Chr22:19766693	TBX1		DiGeorge syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 210661666.	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 210041267.	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 209359568.	NM_001379200.1(TBX1):c.156C>A (p.Pro52=) GRCh37: Chr22:19748522 GRCh38: Chr22:19760999	TBX1		DiGeorge syndrome	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 209222969.	NM_001379200.1(TBX1):c.483C>G (p.Pro161=) GRCh37: Chr22:19750809 GRCh38: Chr22:19763286	TBX1		DiGeorge syndrome	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 209072470.	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 209063771.	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 208894372.	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 208884273.	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 208656674.	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 208359375.	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 207959376.	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 207836777.	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 207823178.	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 207637579.	NM_001379200.1(TBX1):c.1260G>A (p.Leu420=) GRCh37: Chr22:19754135 GRCh38: Chr22:19766612	TBX1		DiGeorge syndrome	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 207484880.	NM_001379200.1(TBX1):c.1161C>G (p.Gly387=) GRCh37: Chr22:19754036 GRCh38: Chr22:19766513	TBX1		DiGeorge syndrome	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 206660081.	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 206541082.	NM_001379200.1(TBX1):c.1410A>G (p.Pro470=) GRCh37: Chr22:19754285 GRCh38: Chr22:19766762	TBX1		DiGeorge syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 206378683.	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 205878784.	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 205642085.	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 205499686.	NM_001379200.1(TBX1):c.1356C>T (p.Gly452=) GRCh37: Chr22:19754231 GRCh38: Chr22:19766708	TBX1		DiGeorge syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 205362187.	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 205359288.	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 204788589.	NM_001379200.1(TBX1):c.1095G>A (p.Gly365=) GRCh37: Chr22:19753970 GRCh38: Chr22:19766447	TBX1		DiGeorge syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 204741090.	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 204440291.	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 204312992.	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 204230393.	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 203884394.	NM_001379200.1(TBX1):c.660G>A (p.Val220=) GRCh37: Chr22:19751798 GRCh38: Chr22:19764275	TBX1		DiGeorge syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 203812995.	NM_001379200.1(TBX1):c.1074G>C (p.Ala358=) GRCh37: Chr22:19753949 GRCh38: Chr22:19766426	TBX1		Cardiovascular phenotype, DiGeorge syndrome	Likely benign (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203760096.	NM_001379200.1(TBX1):c.573G>C (p.Ala191=) GRCh37: Chr22:19751711 GRCh38: Chr22:19764188	TBX1		DiGeorge syndrome	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 203361897.	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 203272198.	NM_001379200.1(TBX1):c.285C>G (p.Pro95=) GRCh37: Chr22:19748651 GRCh38: Chr22:19761128	TBX1		DiGeorge syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 203237899.	NM_001379200.1(TBX1):c.228G>T (p.Pro76=) GRCh37: Chr22:19748594 GRCh38: Chr22:19761071	TBX1		DiGeorge syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 2031138100.	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

<< First< Prev

Page of 6