| - 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 |
| - 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 |
| - GRCh37:
- Chr22:19748804
- GRCh38:
- Chr22:19761281
| TBX1 | | DiGeorge syndrome, Velocardiofacial syndrome, Tetralogy of Fallot
| Likely pathogenic (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754023-19754024
- GRCh38:
- Chr22:19766500-19766501
| TBX1 | | DiGeorge syndrome | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754129
- GRCh38:
- Chr22:19766606
| TBX1 | E409D, E418D | DiGeorge syndrome | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19750811
- GRCh38:
- Chr22:19763288
| TBX1 | M153T, M162T | DiGeorge syndrome | Uncertain significance (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754131
- GRCh38:
- Chr22:19766608
| TBX1 | P410L, P419L | DiGeorge syndrome | Uncertain significance (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754114
- GRCh38:
- Chr22:19766591
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19751754
- GRCh38:
- Chr22:19764231
| TBX1 | P197A, P206A | DiGeorge syndrome | Uncertain significance (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753363
- GRCh38:
- Chr22:19765840
| TBX1 | | DiGeorge syndrome | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754291-19754292
- GRCh38:
- Chr22:19766768-19766769
| TBX1 | | DiGeorge syndrome | Uncertain significance (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19752612
- GRCh38:
- Chr22:19765089
| TBX1 | | DiGeorge syndrome | Likely benign (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753916
- GRCh38:
- Chr22:19766393
| TBX1 | | DiGeorge syndrome | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19752565
- GRCh38:
- Chr22:19765042
| TBX1 | E266K, E257K | DiGeorge syndrome | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748624
- GRCh38:
- Chr22:19761101
| TBX1 | | DiGeorge syndrome | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753926
- GRCh38:
- Chr22:19766403
| TBX1 | | DiGeorge syndrome | Likely benign (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753410
- GRCh38:
- Chr22:19765887
| TBX1 | | DiGeorge syndrome | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754232-19754246
- GRCh38:
- Chr22:19766709-19766723
| TBX1 | | DiGeorge syndrome | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754255
- GRCh38:
- Chr22:19766732
| TBX1 | H460Q, H451Q | DiGeorge syndrome | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748587
- GRCh38:
- Chr22:19761064
| TBX1 | P65L, P74L | DiGeorge syndrome | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19752531
- GRCh38:
- Chr22:19765008
| TBX1 | | DiGeorge syndrome | Likely benign (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748470
- GRCh38:
- Chr22:19760947
| TBX1 | G35D, G26D | DiGeorge syndrome | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19750864
- GRCh38:
- Chr22:19763341
| TBX1 | R171W, R180W | DiGeorge syndrome | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753409
- GRCh38:
- Chr22:19765886
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753362
- GRCh38:
- Chr22:19765839
| TBX1 | | DiGeorge syndrome | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753365
- GRCh38:
- Chr22:19765842
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754151
- GRCh38:
- Chr22:19766628
| TBX1 | K417Q, K426Q | DiGeorge syndrome | Uncertain significance (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753431
- GRCh38:
- Chr22:19765908
| TBX1 | | DiGeorge syndrome | Likely benign (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754343
- GRCh38:
- Chr22:19766820
| TBX1 | S490P, S481P | DiGeorge syndrome | Uncertain significance (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754303
- GRCh38:
- Chr22:19766780
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19752469
- GRCh38:
- Chr22:19764946
| TBX1 | | DiGeorge syndrome | Likely benign (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753439
- GRCh38:
- Chr22:19765916
| TBX1 | R317L, R308L | DiGeorge syndrome | Uncertain significance (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748434
- GRCh38:
- Chr22:19760911
| TBX1 | T14K, T23K | DiGeorge syndrome | Uncertain significance (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748551
- GRCh38:
- Chr22:19761028
| TBX1 | C62Y, C53Y | DiGeorge syndrome | Uncertain significance (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748492
- GRCh38:
- Chr22:19760969
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753536
- GRCh38:
- Chr22:19766013
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748821
- GRCh38:
- Chr22:19761298
| TBX1 | | DiGeorge syndrome | Likely benign (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754243-19754244
- GRCh38:
- Chr22:19766720-19766721
| TBX1 | | DiGeorge syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748798
- GRCh38:
- Chr22:19761275
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748672
- GRCh38:
- Chr22:19761149
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748656
- GRCh38:
- Chr22:19761133
| TBX1 | G88D, G97D | DiGeorge syndrome | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19751765
- GRCh38:
- Chr22:19764242
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748415
- GRCh38:
- Chr22:19760892
| TBX1 | C17R | DiGeorge syndrome | Likely benign (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748481
- GRCh38:
- Chr22:19760958
| TBX1 | A30T, A39T | DiGeorge syndrome | Uncertain significance (Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753895
- GRCh38:
- Chr22:19766372
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19752530
- GRCh38:
- Chr22:19765007
| TBX1 | Y245C, Y254C | DiGeorge syndrome | Uncertain significance (Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748569
- GRCh38:
- Chr22:19761046
| TBX1 | G59D, G68D | DiGeorge syndrome | Uncertain significance (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753310
- GRCh38:
- Chr22:19765787
| TBX1 | | DiGeorge syndrome | Likely benign (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19751777
- GRCh38:
- Chr22:19764254
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753277
- GRCh38:
- Chr22:19765754
| TBX1 | | DiGeorge syndrome | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - 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 |
| - GRCh37:
- Chr22:19754285-19754286
- GRCh38:
- Chr22:19766762-19766763
| TBX1 | | DiGeorge syndrome | Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754340-19754342
- GRCh38:
- Chr22:19766817-19766819
| TBX1 | S481del, S490del | DiGeorge syndrome | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748458
- GRCh38:
- Chr22:19760935
| TBX1 | G31V, G22V | DiGeorge syndrome | Uncertain significance (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754309
- GRCh38:
- Chr22:19766786
| TBX1 | | DiGeorge syndrome | Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748536
- GRCh38:
- Chr22:19761013
| TBX1 | P57L, P48L | DiGeorge syndrome | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748794
- GRCh38:
- Chr22:19761271
| TBX1 | K134R, K143R | DiGeorge syndrome | Uncertain significance (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753942
- GRCh38:
- Chr22:19766419
| TBX1 | R347H, R356H | DiGeorge syndrome | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19750833
- GRCh38:
- Chr22:19763310
| TBX1 | M160I, M169I | DiGeorge syndrome | Uncertain significance (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753479
- GRCh38:
- Chr22:19765956
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753275
- GRCh38:
- Chr22:19765752
| TBX1 | | DiGeorge syndrome | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753322
- GRCh38:
- Chr22:19765799
| TBX1 | | DiGeorge syndrome | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754158
- GRCh38:
- Chr22:19766635
| TBX1 | P419R, P428R | DiGeorge syndrome | Uncertain significance (May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748562-19748563
- GRCh38:
- Chr22:19761039-19761040
| TBX1 | G59fs, G68fs | DiGeorge syndrome | Pathogenic (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754216
- GRCh38:
- Chr22:19766693
| TBX1 | | DiGeorge syndrome | Likely benign (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753440-19753451
- GRCh38:
- Chr22:19765917-19765928
| TBX1 | | DiGeorge syndrome | Uncertain significance (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753945
- GRCh38:
- Chr22:19766422
| TBX1 | D348G, D357G | DiGeorge syndrome | Uncertain significance (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748522
- GRCh38:
- Chr22:19760999
| TBX1 | | DiGeorge syndrome | Likely benign (Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19750809
- GRCh38:
- Chr22:19763286
| TBX1 | | DiGeorge syndrome | Likely benign (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753274
- GRCh38:
- Chr22:19765751
| TBX1 | | DiGeorge syndrome | Likely benign (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753964-19753965
- GRCh38:
- Chr22:19766441-19766442
| TBX1 | L364I, L355I | DiGeorge syndrome | Uncertain significance (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753525
- GRCh38:
- Chr22:19766002
| TBX1 | D337N, D346N, G337R, G337S | DiGeorge syndrome | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19750796
- GRCh38:
- Chr22:19763273
| TBX1 | F157S, F148S | DiGeorge syndrome | Uncertain significance (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748523-19748582
- GRCh38:
- Chr22:19761000-19761059
| TBX1 | | DiGeorge syndrome | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748593
- GRCh38:
- Chr22:19761070
| TBX1 | P67L, P76L | DiGeorge syndrome | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748625
- GRCh38:
- Chr22:19761102
| TBX1 | A78S, A87S | DiGeorge syndrome | Uncertain significance (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748596
- GRCh38:
- Chr22:19761073
| TBX1 | H77L, H68L | DiGeorge syndrome | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754141-19754142
- GRCh38:
- Chr22:19766618-19766619
| TBX1 | | DiGeorge syndrome | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754135
- GRCh38:
- Chr22:19766612
| TBX1 | | DiGeorge syndrome | Likely benign (Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754036
- GRCh38:
- Chr22:19766513
| TBX1 | | DiGeorge syndrome | Likely benign (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754309-19754310
- GRCh38:
- Chr22:19766786-19766787
| TBX1 | | DiGeorge syndrome | Uncertain significance (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754285
- GRCh38:
- Chr22:19766762
| TBX1 | | DiGeorge syndrome | Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753367
- GRCh38:
- Chr22:19765844
| TBX1 | | DiGeorge syndrome | Likely benign (May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748578
- GRCh38:
- Chr22:19761055
| TBX1 | G62D, G71D | DiGeorge syndrome | Uncertain significance (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748470
- GRCh38:
- Chr22:19760947
| TBX1 | G26V, G35V | DiGeorge syndrome | Uncertain significance (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754231
- GRCh38:
- Chr22:19766708
| TBX1 | | DiGeorge syndrome | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753898
- GRCh38:
- Chr22:19766375
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754295-19754303
- GRCh38:
- Chr22:19766772-19766780
| TBX1 | | DiGeorge syndrome | Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753970
- GRCh38:
- Chr22:19766447
| TBX1 | | DiGeorge syndrome | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753900
- GRCh38:
- Chr22:19766377
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753359-19753360
- GRCh38:
- Chr22:19765836-19765837
| TBX1 | | DiGeorge syndrome | Benign (May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748768
- GRCh38:
- Chr22:19761245
| TBX1 | Q125H, Q134H | DiGeorge syndrome | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753419
- GRCh38:
- Chr22:19765896
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19751798
- GRCh38:
- Chr22:19764275
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753949
- GRCh38:
- Chr22:19766426
| TBX1 | | Cardiovascular phenotype, DiGeorge syndrome | Likely benign (Mar 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19751711
- GRCh38:
- Chr22:19764188
| TBX1 | | DiGeorge syndrome | Likely benign (Jan 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19754249-19754250
- GRCh38:
- Chr22:19766726-19766727
| TBX1 | A459fs, A450fs | DiGeorge syndrome | Uncertain significance (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748651
- GRCh38:
- Chr22:19761128
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19748594
- GRCh38:
- Chr22:19761071
| TBX1 | | DiGeorge syndrome | Likely benign (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19753901
- GRCh38:
- Chr22:19766378
| TBX1 | | DiGeorge syndrome | Uncertain significance (Oct 2, 2022) | criteria provided, single submitter |