| - GRCh37:
- Chr15:28538169-28566507
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability | Likely pathogenic
(May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28375319-28375320
- GRCh38:
- Chr15:28130173-28130174
| HERC2 | T4265fs | Developmental delay with autism spectrum disorder and gait instability | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28473513
- GRCh38:
- Chr15:28228367
| HERC2 | P1772L | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28361850
- GRCh38:
- Chr15:28116704
| HERC2 | A4524T | not provided | Uncertain significance
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28465669
- GRCh38:
- Chr15:28220523
| HERC2 | D1925G | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Nov 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28361889
- GRCh38:
- Chr15:28116743
| HERC2 | S4511A | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Nov 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28520095
- GRCh38:
- Chr15:28274949
| HERC2 | A200V | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28424083
- GRCh38:
- Chr15:28178937
| HERC2 | Q3038R | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28441703
- GRCh38:
- Chr15:28196557
| HERC2 | N2675S | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28501354
- GRCh38:
- Chr15:28256208
| HERC2 | A876V | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28408275
- GRCh38:
- Chr15:28163129
| HERC2 | A3571S | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28362294
- GRCh38:
- Chr15:28117148
| HERC2 | R4427* | Developmental delay with autism spectrum disorder and gait instability | Likely pathogenic
(Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28361982
- GRCh38:
- Chr15:28116836
| HERC2 | G4480S | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Apr 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28515930
- GRCh38:
- Chr15:28270784
| HERC2 | R390* | Developmental delay with autism spectrum disorder and gait instability | Pathogenic
(Apr 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28544395
- GRCh38:
- Chr15:28299249
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28465648
- GRCh38:
- Chr15:28220502
| HERC2 | P1932L | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28369236
- GRCh38:
- Chr15:28124090
| HERC2 | G4379R | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28419606
- GRCh38:
- Chr15:28174460
| HERC2 | T3331M | Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability, not provided
| Uncertain significance
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28422640
- GRCh38:
- Chr15:28177494
| HERC2 | T3060M | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(May 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28483809
- GRCh38:
- Chr15:28238663
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES,
not provided | Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28502279
- GRCh38:
- Chr15:28257133
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability | Benign
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28467246
- GRCh38:
- Chr15:28222100
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability | Benign
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28377772
- GRCh38:
- Chr15:28132626
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability | Benign
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28359744
- GRCh38:
- Chr15:28114598
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability | Benign
(Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28386612
- GRCh38:
- Chr15:28141466
| HERC2 | E3994A | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jun 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28414665
- GRCh38:
- Chr15:28169519
| HERC2 | | Developmental delay with autism spectrum disorder and gait instability, not provided | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28431728
- GRCh38:
- Chr15:28186582
| HERC2 | S2940R | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28436333
- GRCh38:
- Chr15:28191187
| HERC2 | V2837I | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28437253
- GRCh38:
- Chr15:28192107
| HERC2 | R2769C | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases | Uncertain significance
(Aug 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28441442
- GRCh38:
- Chr15:28196296
| HERC2 | D2727H | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(Dec 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28459392
- GRCh38:
- Chr15:28214246
| HERC2 | R2129C | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Aug 7, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28465602
- GRCh38:
- Chr15:28220456
| HERC2 | D1947E | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Nov 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28478385
- GRCh38:
- Chr15:28233239
| HERC2 | L1528F | Developmental delay with autism spectrum disorder and gait instability, not specified | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28478819
- GRCh38:
- Chr15:28233673
| HERC2 | E1448K | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28479280
- GRCh38:
- Chr15:28234134
| HERC2 | G1385E | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28483900
- GRCh38:
- Chr15:28238754
| HERC2 | Q1199R | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases | Uncertain significance
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28493862
- GRCh38:
- Chr15:28248716
| HERC2 | V1024A | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases | Uncertain significance
(Jan 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28501123
- GRCh38:
- Chr15:28255977
| HERC2 | N922K | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28538102
- GRCh38:
- Chr15:28292956
| HERC2 | E85G | Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases | Uncertain significance
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28369337
- GRCh38:
- Chr15:28124191
| HERC2 | A4345V | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28370199
- GRCh38:
- Chr15:28125053
| HERC2 | A4315T | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Nov 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28436146
- GRCh38:
- Chr15:28191000
| HERC2 | D2872H | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28436381
- GRCh38:
- Chr15:28191235
| HERC2 | R2821C | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jan 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28458944
- GRCh38:
- Chr15:28213798
| HERC2 | V2244M | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(May 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28463791
- GRCh38:
- Chr15:28218645
| HERC2 | H1958D | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jan 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28478689
- GRCh38:
- Chr15:28233543
| HERC2 | L1457S | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jun 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28479391
- GRCh38:
- Chr15:28234245
| HERC2 | T1348I | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jan 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28501379
- GRCh38:
- Chr15:28256233
| HERC2 | T868A | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Mar 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28538123
- GRCh38:
- Chr15:28292977
| HERC2 | D78G | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28506003
- GRCh38:
- Chr15:28260857
| HERC2 | R746C | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28356916
- GRCh38:
- Chr15:28111770
| HERC2 | G4833E | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(Aug 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28359810
- GRCh38:
- Chr15:28114664
| HERC2 | H4621Y | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Feb 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28362199
- GRCh38:
- Chr15:28117053
| HERC2 | S4458R | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Feb 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28375712
- GRCh38:
- Chr15:28130566
| HERC2 | V4200A | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28360587-28360588
- GRCh38:
- Chr15:28115441-28115442
| HERC2 | A4570fs | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28412931
- GRCh38:
- Chr15:28167785
| HERC2 | P3486A | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28441715
- GRCh38:
- Chr15:28196569
| HERC2 | A2671G | Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jun 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28397868
- GRCh38:
- Chr15:28152722
| HERC2 | P3619S | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Mar 3, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:27571956-28600013
| GABRG3, HERC2, OCA2 | | Developmental delay with autism spectrum disorder and gait instability | Pathogenic
(Dec 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28443859-28443860
- GRCh38:
- Chr15:28198713-28198714
| HERC2 | G2592fs | SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, Developmental delay with autism spectrum disorder and gait instability | Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28514398
- GRCh38:
- Chr15:28269252
| HERC2 | T481M | not provided, Developmental delay with autism spectrum disorder and gait instability | Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28479308
- GRCh38:
- Chr15:28234162
| HERC2 | R1376* | Developmental delay with autism spectrum disorder and gait instability | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28437229
- GRCh38:
- Chr15:28192083
| HERC2 | M2777V | not provided, Developmental delay with autism spectrum disorder and gait instability | Conflicting interpretations of pathogenicity
(Jun 9, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28493800
- GRCh38:
- Chr15:28248654
| HERC2 | R1045C | not provided, Prader-Willi syndrome, Developmental delay with autism spectrum disorder and gait instability,
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | Likely benign
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28421622
- GRCh38:
- Chr15:28176476
| HERC2 | G3213E | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28459872
- GRCh38:
- Chr15:28214726
| HERC2 | L2096P | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28459897
- GRCh38:
- Chr15:28214751
| HERC2 | E2088K | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28446609-28446610
- GRCh38:
- Chr15:28201463-28201464
| HERC2 | N2570fs | Developmental delay with autism spectrum disorder and gait instability | Likely pathogenic
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28491183
- GRCh38:
- Chr15:28246037
| HERC2 | I1141V | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28397883
- GRCh38:
- Chr15:28152737
| HERC2 | V3614M | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Sep 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28459824
- GRCh38:
- Chr15:28214678
| HERC2 | S2112F | Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28420779
- GRCh38:
- Chr15:28175633
| HERC2 | L3237* | Developmental delay with autism spectrum disorder and gait instability | Pathogenic
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:28514429
- GRCh38:
- Chr15:28269283
| HERC2 | R471C | Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Apr 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28437159
- GRCh38:
- Chr15:28192013
| HERC2 | R2800H | Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES,
not provided | Uncertain significance
(Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28437216
- GRCh38:
- Chr15:28192070
| HERC2 | S2781T | Developmental delay with autism spectrum disorder and gait instability, not provided, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28473454
- GRCh38:
- Chr15:28228308
| HERC2 | M1792V | Inborn genetic diseases, Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome,
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES, not provided | Uncertain significance
(Feb 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28517432
- GRCh38:
- Chr15:28272286
| HERC2 | L338V | not provided, Developmental delay with autism spectrum disorder and gait instability | Uncertain significance
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28375354
- GRCh38:
- Chr15:28130208
| HERC2 | A4253T | Global developmental delay, not provided, Developmental delay with autism spectrum disorder and gait instability
| Uncertain significance
(May 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28386977
- GRCh38:
- Chr15:28141831
| HERC2 | R3906C | Developmental delay with autism spectrum disorder and gait instability, not provided | Uncertain significance
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28360685
- GRCh38:
- Chr15:28115539
| HERC2 | V4538M | Developmental delay with autism spectrum disorder and gait instability, Prader-Willi syndrome, SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES,
not provided | Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28375310
- GRCh38:
- Chr15:28130164
| HERC2 | D4267E | Inborn genetic diseases, not specified | Benign
(Mar 29, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:28501145
- GRCh38:
- Chr15:28255999
| HERC2 | | not provided, Developmental delay with autism spectrum disorder and gait instability, not specified
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:28510853
- GRCh38:
- Chr15:28265707
| HERC2 | P594L | Developmental delay with autism spectrum disorder and gait instability | Pathogenic
(Feb 1, 2013) | no assertion criteria provided |