| - GRCh37:
- Chr2:45169244-45236249
| SIX2, SIX3 | | not provided | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169414
- GRCh38:
- Chr2:44942275
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169304
- GRCh38:
- Chr2:44942165
| SIX3 | D21N | Holoprosencephaly 2 | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169429-45169430
- GRCh38:
- Chr2:44942290-44942291
| SIX3 | | Holoprosencephaly 2 | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169379-45169387
- GRCh38:
- Chr2:44942240-44942248
| SIX3 | | Holoprosencephaly 2 | Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169831
- GRCh38:
- Chr2:44942692
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171692
- GRCh38:
- Chr2:44944553
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169489
- GRCh38:
- Chr2:44942350
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171739
- GRCh38:
- Chr2:44944600
| SIX3 | M280K | Holoprosencephaly 2 | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169361-45169363
- GRCh38:
- Chr2:44942222-44942224
| SIX3 | G43del | Holoprosencephaly 2 | Uncertain significance
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169537
- GRCh38:
- Chr2:44942398
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169249
- GRCh38:
- Chr2:44942110
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169681
- GRCh38:
- Chr2:44942542
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169366-45169367
- GRCh38:
- Chr2:44942227-44942228
| SIX3 | | Holoprosencephaly 2 | Uncertain significance
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169355-45169372
- GRCh38:
- Chr2:44942216-44942233
| SIX3 | | Inborn genetic diseases, Holoprosencephaly 2 | Conflicting interpretations of pathogenicity
(Jun 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45169487
- GRCh38:
- Chr2:44942348
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169329
- GRCh38:
- Chr2:44942190
| SIX3 | L29P | Holoprosencephaly 2, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45169795
- GRCh38:
- Chr2:44942656
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169873
- GRCh38:
- Chr2:44942734
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169825
- GRCh38:
- Chr2:44942686
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169282
- GRCh38:
- Chr2:44942143
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Nov 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171817
- GRCh38:
- Chr2:44944678
| SIX3 | S306N | Holoprosencephaly 2 | Uncertain significance
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169668
- GRCh38:
- Chr2:44942529
| SIX3 | T142fs | Holoprosencephaly 2 | Pathogenic
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169300
- GRCh38:
- Chr2:44942161
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171843
- GRCh38:
- Chr2:44944704
| SIX3 | D315N | Holoprosencephaly 2 | Uncertain significance
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171701
- GRCh38:
- Chr2:44944562
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169439
- GRCh38:
- Chr2:44942300
| SIX3 | G66S | Holoprosencephaly 2 | Uncertain significance
(Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171849
- GRCh38:
- Chr2:44944710
| SIX3 | G317S | not provided, Holoprosencephaly 2 | Uncertain significance
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169907
- GRCh38:
- Chr2:44942768
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171743
- GRCh38:
- Chr2:44944604
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169507
- GRCh38:
- Chr2:44942368
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Dec 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169900
- GRCh38:
- Chr2:44942761
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Dec 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169957
- GRCh38:
- Chr2:44942818
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169630
- GRCh38:
- Chr2:44942491
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171782
- GRCh38:
- Chr2:44944643
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45170032
- GRCh38:
- Chr2:44942893
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169363
- GRCh38:
- Chr2:44942224
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169470
- GRCh38:
- Chr2:44942331
| SIX3 | E76V | Holoprosencephaly 2 | Uncertain significance
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169335
- GRCh38:
- Chr2:44942196
| SIX3 | S31T | Holoprosencephaly 2 | Uncertain significance
(Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169464
- GRCh38:
- Chr2:44942325
| SIX3 | P74R | Holoprosencephaly 2 | Uncertain significance
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169322
- GRCh38:
- Chr2:44942183
| SIX3 | I27V | Holoprosencephaly 2 | Uncertain significance
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169262
- GRCh38:
- Chr2:44942123
| SIX3 | L7I | Holoprosencephaly 2 | Uncertain significance
(Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171849
- GRCh38:
- Chr2:44944710
| SIX3 | G317R | Holoprosencephaly 2 | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169383
- GRCh38:
- Chr2:44942244
| SIX3 | G47V | Holoprosencephaly 2 | Uncertain significance
(Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169350-45169351
- GRCh38:
- Chr2:44942211-44942212
| SIX3 | | Inborn genetic diseases, Holoprosencephaly 2 | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45169284
- GRCh38:
- Chr2:44942145
| SIX3 | F14C | Holoprosencephaly 2 | Uncertain significance
(Sep 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169407
- GRCh38:
- Chr2:44942268
| SIX3 | G55E | not specified, Holoprosencephaly 2 | Uncertain significance
(Oct 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169337-45169384
- GRCh38:
- Chr2:44942198-44942245
| SIX3 | | Holoprosencephaly 2 | Uncertain significance
(Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171791
- GRCh38:
- Chr2:44944652
| SIX3 | | not provided, Holoprosencephaly 2 | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169929
- GRCh38:
- Chr2:44942790
| SIX3 | P229L | Holoprosencephaly 2 | Uncertain significance
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:176720911
- GRCh38:
- Chr5:177293910
| NSD1 | S1912F, S2181F, S1890F, S1807F, S1927F, S1930F, S2041F | Holoprosencephaly 2 | Likely pathogenic
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169642-45169656
- GRCh38:
- Chr2:44942503-44942517
| SIX3 | | Holoprosencephaly 2 | Pathogenic
(Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169816
- GRCh38:
- Chr2:44942677
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169824
- GRCh38:
- Chr2:44942685
| SIX3 | R194P | Holoprosencephaly 2 | Likely pathogenic
(Feb 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171861
- GRCh38:
- Chr2:44944722
| SIX3 | L321F | Holoprosencephaly 2 | Uncertain significance
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171730
- GRCh38:
- Chr2:44944591
| SIX3 | P277Q | Holoprosencephaly 2 | Benign
(Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171731
- GRCh38:
- Chr2:44944592
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169351
- GRCh38:
- Chr2:44942212
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Apr 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169606
- GRCh38:
- Chr2:44942467
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Apr 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171809
- GRCh38:
- Chr2:44944670
| SIX3 | | Holoprosencephaly 2, not provided | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169459
- GRCh38:
- Chr2:44942320
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169301
- GRCh38:
- Chr2:44942162
| SIX3 | A20S | not provided, Holoprosencephaly 2 | Benign
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45171700
- GRCh38:
- Chr2:44944561
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169339
- GRCh38:
- Chr2:44942200
| SIX3 | | Holoprosencephaly 2 | Likely benign
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169594
- GRCh38:
- Chr2:44942455
| SIX3 | | not provided, Holoprosencephaly 2 | Benign/Likely benign
(Mar 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169581
- GRCh38:
- Chr2:44942442
| SIX3 | W113S | Holoprosencephaly 2 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169591
- GRCh38:
- Chr2:44942452
| SIX3 | | Holoprosencephaly 2, not provided | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169750
- GRCh38:
- Chr2:44942611
| SIX3 | W169* | Holoprosencephaly 2 | Pathogenic
(Jan 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169295
- GRCh38:
- Chr2:44942156
| SIX3 | N18Y | Holoprosencephaly 2 | Uncertain significance
(Oct 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169412
- GRCh38:
- Chr2:44942273
| SIX3 | G57C | Holoprosencephaly 2 | Uncertain significance
(Mar 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169683-45169693
- GRCh38:
- Chr2:44942544-44942554
| SIX3 | L148fs | Holoprosencephaly 2 | Pathogenic
(Mar 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45171787
- GRCh38:
- Chr2:44944648
| SIX3 | S296W | Holoprosencephaly 2 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169411
- GRCh38:
- Chr2:44942272
| SIX3 | | Holoprosencephaly 2, not provided | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169370
- GRCh38:
- Chr2:44942231
| SIX3 | G43C | not provided, Schizencephaly, Holoprosencephaly 2
| Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45170029
- GRCh38:
- Chr2:44942890
| SIX3 | | Holoprosencephaly 2, not provided | Conflicting interpretations of pathogenicity
(Aug 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45169449
- GRCh38:
- Chr2:44942310
| SIX3 | G69D | Holoprosencephaly 2, Schizencephaly, Holoprosencephaly 2
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169639-45169640
- GRCh38:
- Chr2:44942500-44942501
| SIX3 | A136fs | not provided, Holoprosencephaly 2 | Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45171724
- GRCh38:
- Chr2:44944585
| SIX3 | I275T | not provided, Holoprosencephaly 2 | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169638-45169639
- Chr2:45169449
- GRCh38:
- Chr2:44942499-44942500
- Chr2:44942310
| SIX3, SIX3 | V137fs, G69D | Holoprosencephaly 2 | Pathogenic
(Dec 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr2:45169549
- GRCh38:
- Chr2:44942410
| SIX3 | | not provided, Holoprosencephaly 2 | Benign/Likely benign
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169856
- GRCh38:
- Chr2:44942717
| SIX3 | D205H | Holoprosencephaly 2, not provided | Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45171847
- GRCh38:
- Chr2:44944708
| SIX3 | T316I | not provided, Holoprosencephaly 2 | Conflicting interpretations of pathogenicity
(Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45169612
- GRCh38:
- Chr2:44942473
| SIX3 | | Holoprosencephaly 2, not provided | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45171731
- GRCh38:
- Chr2:44944592
| SIX3 | | not specified, not provided, Holoprosencephaly 2
| Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169963
- GRCh38:
- Chr2:44942824
| SIX3 | | not specified, Holoprosencephaly 2, not provided
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169429-45169430
- GRCh38:
- Chr2:44942290-44942291
| SIX3 | | not provided, Holoprosencephaly 2 | Conflicting interpretations of pathogenicity
(Jul 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:45169768
- GRCh38:
- Chr2:44942629
| SIX3 | | not specified, not provided, Holoprosencephaly 2
| Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45171842
- GRCh38:
- Chr2:44944703
| SIX3 | | Holoprosencephaly 2, not specified, not provided
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| | | | Holoprosencephaly 2 | Benign
(Aug 29, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:45169333
- GRCh38:
- Chr2:44942194
| SIX3 | | not specified, not provided, Holoprosencephaly 2
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169939-45169948
- GRCh38:
- Chr2:44942800-44942809
| SIX3 | N232fs | Holoprosencephaly 2 | Pathogenic
(Aug 29, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:45169819
- GRCh38:
- Chr2:44942680
| SIX3 | | Holoprosencephaly 2, Schizencephaly, not specified,
Holoprosencephaly 2, not provided | Benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169462
- GRCh38:
- Chr2:44942323
| SIX3 | | not specified, not provided, Holoprosencephaly 2
| Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169352
- GRCh38:
- Chr2:44942213
| SIX3 | G37C | not specified, not provided, Holoprosencephaly 2
| Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:45169628
- GRCh38:
- Chr2:44942489
| SIX3 | E129* | Schizencephaly, Holoprosencephaly 2 | Pathogenic
(Mar 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:45169582
- GRCh38:
- Chr2:44942443
| SIX3 | W113C | not specified | Pathogenic
(Jan 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169798-45169799
- GRCh38:
- Chr2:44942659-44942660
| SIX3 | P187fs | Holoprosencephaly 2 | Pathogenic
(Oct 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr2:45169992
- GRCh38:
- Chr2:44942853
| SIX3 | V250A | Holoprosencephaly 2 | Pathogenic
(May 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45170013
- GRCh38:
- Chr2:44942874
| SIX3 | R257P | Holoprosencephaly 2 | Likely pathogenic
(Aug 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:45169919
- GRCh38:
- Chr2:44942780
| SIX3 | L226V | Holoprosencephaly 2 | Pathogenic
(Aug 29, 2013) | no assertion criteria provided |