| - GRCh37:
- Chr18:3456549
- GRCh38:
- Chr18:3456551
| TGIF1 | S52fs, S72fs, S75fs, S86fs | Holoprosencephaly 4 | Likely pathogenic
(Jan 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456383
- GRCh38:
- Chr18:3456385
| TGIF1 | | Holoprosencephaly 4 | Benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456509
- GRCh38:
- Chr18:3456511
| TGIF1 | | Holoprosencephaly 4 | Benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457344
- GRCh38:
- Chr18:3457346
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457478
- GRCh38:
- Chr18:3457480
| TGIF1 | T120M, T134M, T100M, T123M | Holoprosencephaly 4 | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457730
- GRCh38:
- Chr18:3457732
| TGIF1 | A184V, A204V, A218V, A207V | Holoprosencephaly 4 | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457535
- GRCh38:
- Chr18:3457537
| TGIF1 | T139N, T119N, T142N, T153N | Holoprosencephaly 4 | Uncertain significance
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457645
- GRCh38:
- Chr18:3457647
| TGIF1 | T176A, T156A, T179A, T190A | Inborn genetic diseases, Holoprosencephaly 4 | Uncertain significance
(Mar 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3450512
- GRCh38:
- Chr18:3450514
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457499
- GRCh38:
- Chr18:3457501
| TGIF1 | M127T, M141T, M107T, M130T | Holoprosencephaly 4 | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457897
- GRCh38:
- Chr18:3457899
| TGIF1 | R240W, R274W, R260W, R263W | Holoprosencephaly 4 | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457797
- GRCh38:
- Chr18:3457799
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457515
- GRCh38:
- Chr18:3457517
| TGIF1 | F112L, F132L, F135L, F146L | Holoprosencephaly 4 | Uncertain significance
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456459
- GRCh38:
- Chr18:3456461
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3452081
- GRCh38:
- Chr18:3452083
| TGIF1 | | Holoprosencephaly 4 | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457853
- GRCh38:
- Chr18:3457855
| TGIF1 | Q225R, Q245R, Q248R, Q259R | Holoprosencephaly 4 | Uncertain significance
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457527
- GRCh38:
- Chr18:3457529
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457407
- GRCh38:
- Chr18:3457409
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457830
- GRCh38:
- Chr18:3457832
| TGIF1 | | not provided, Holoprosencephaly 4 | Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3450513
- GRCh38:
- Chr18:3450515
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457929
- GRCh38:
- Chr18:3457931
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3450514
- GRCh38:
- Chr18:3450516
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Apr 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457731
- GRCh38:
- Chr18:3457733
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3450517
- GRCh38:
- Chr18:3450519
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Apr 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456560
- GRCh38:
- Chr18:3456562
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457383
- GRCh38:
- Chr18:3457385
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(May 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457615
- GRCh38:
- Chr18:3457617
| TGIF1 | V166I, V169I, V180I, V146I | Holoprosencephaly 4 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:2847807-3582246
| EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, TGIF1, DLGAP1 | | Holoprosencephaly 4 | Pathogenic
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457607
- GRCh38:
- Chr18:3457609
| TGIF1 | P163R, P166R, P177R, P143R | Holoprosencephaly 4 | Uncertain significance
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457728
- GRCh38:
- Chr18:3457730
| TGIF1 | I183M, I206M, I217M, I203M | Holoprosencephaly 4 | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457579
- GRCh38:
- Chr18:3457581
| TGIF1 | R154G, R134G, R157G, R168G | Holoprosencephaly 4 | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457691
- GRCh38:
- Chr18:3457693
| TGIF1 | S191L, S194L, S205L, S171L | Holoprosencephaly 4 | Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457408
- GRCh38:
- Chr18:3457410
| TGIF1 | M111V, M97V, M77V, M100V | Holoprosencephaly 4, not specified | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457495
- GRCh38:
- Chr18:3457497
| TGIF1 | V106M, V129M, V140M, V126M | Holoprosencephaly 4 | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3452332
- GRCh38:
- Chr18:3452334
| TGIF1 | | Holoprosencephaly 4 | Uncertain significance
(Feb 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457457
- GRCh38:
- Chr18:3457459
| TGIF1 | R113H, R116H, R127H, R93H | Holoprosencephaly 4, not provided | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457582
- GRCh38:
- Chr18:3457584
| TGIF1 | P135S, P155S, P158S, P169S | Holoprosencephaly 4 | Uncertain significance
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3449792
- GRCh38:
- Chr18:3449794
| TGIF1 | | Holoprosencephaly 4 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3449777
- GRCh38:
- Chr18:3449779
| TGIF1 | | Holoprosencephaly 4 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3449775
- GRCh38:
- Chr18:3449777
| TGIF1 | | Holoprosencephaly 4 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457390
- GRCh38:
- Chr18:3457392
| TGIF1 | R105C, R94C, R71C, R91C | Holoprosencephaly 4 | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456425
- GRCh38:
- Chr18:3456427
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456563
- GRCh38:
- Chr18:3456565
| TGIF1 | H79Q, H56Q, H76Q, H90Q | Holoprosencephaly 4 | Benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3456395
- GRCh38:
- Chr18:3456397
| TGIF1 | | not provided, Holoprosencephaly 4 | Benign
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3447718-3457958
- GRCh38:
- Chr18:3447720-3457960
| LOC130062108, LOC130062109, LOC130062110, LOC130062111, TGIF1 | | Holoprosencephaly 4 | Pathogenic
(Sep 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457456
- GRCh38:
- Chr18:3457458
| TGIF1 | R113C, R93C, R127C, R116C | Holoprosencephaly 4 | Uncertain significance
(Mar 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457387
- GRCh38:
- Chr18:3457389
| TGIF1 | R90C, R104C, R93C, R70C | Holoprosencephaly 4 | Likely pathogenic
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457957
- GRCh38:
- Chr18:3457959
| TGIF1 | | Holoprosencephaly 4 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:3457842
- GRCh38:
- Chr18:3457844
| TGIF1 | | not specified, Holoprosencephaly 4 | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:3457692
- GRCh38:
- Chr18:3457694
| TGIF1 | | Holoprosencephaly 4, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457608
- GRCh38:
- Chr18:3457610
| TGIF1 | | not provided, Holoprosencephaly 4 | Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457776
- GRCh38:
- Chr18:3457778
| TGIF1 | | not specified, not provided, Holoprosencephaly sequence,
Holoprosencephaly 4 | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457695
- GRCh38:
- Chr18:3457697
| TGIF1 | | not provided, Holoprosencephaly sequence, not specified,
Holoprosencephaly 4 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457607
- GRCh38:
- Chr18:3457609
| TGIF1 | P163L, P166L, P177L, P143L | not specified, Holoprosencephaly sequence, not provided,
Holoprosencephaly 4 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457606
- GRCh38:
- Chr18:3457608
| TGIF1 | P163S, P143S, P177S, P166S | not specified, Holoprosencephaly sequence, not provided,
Holoprosencephaly 4 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3457539
- GRCh38:
- Chr18:3457541
| TGIF1 | | not specified, not provided, Holoprosencephaly sequence,
Holoprosencephaly 4 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3456458
- GRCh38:
- Chr18:3456460
| TGIF1 | | not specified, not provided, Holoprosencephaly sequence,
Holoprosencephaly 4 | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:3457700
- GRCh38:
- Chr18:3457702
| TGIF1 | V174G, V194G, V197G, V208G | Holoprosencephaly 4 | Benign
(Aug 29, 2013) | no assertion criteria provided |
| | | | Holoprosencephaly 4 | Benign
(Aug 29, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr18:3452348
- GRCh38:
- Chr18:3452350
| TGIF1 | | Holoprosencephaly 4 | Benign
(Aug 29, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr18:3457439
- GRCh38:
- Chr18:3457441
| TGIF1 | Q107L, Q121L, Q87L, Q110L | not specified, Holoprosencephaly 4 | Benign/Likely benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3452154
- GRCh38:
- Chr18:3452156
| TGIF1 | | Holoprosencephaly 4 | Pathogenic
(Feb 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr18:3457604
- GRCh38:
- Chr18:3457606
| TGIF1 | S162F, S165F, S176F, S142F | Holoprosencephaly 4 | Pathogenic
(Jun 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr18:3457570
- GRCh38:
- Chr18:3457572
| TGIF1 | T151A, T131A, T165A, T154A | not specified, Holoprosencephaly 4 | Benign/Likely benign
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:3456523
- GRCh38:
- Chr18:3456525
| TGIF1 | P63R, P66R, P77R, P43R | Holoprosencephaly 4 | Pathogenic
(Jun 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr18:3456418
- GRCh38:
- Chr18:3456420
| TGIF1 | S28C, S42C, S8C, S31C | not specified, Holoprosencephaly 4 | Conflicting interpretations of pathogenicity
(May 4, 2022) | criteria provided, conflicting interpretations |