| - GRCh37:
- Chr15:90177083
- GRCh38:
- Chr15:89633852
| KIF7 | R809Q | Inborn genetic diseases, Acrocallosal syndrome, not provided
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176477
- GRCh38:
- Chr15:89633246
| KIF7 | | Acrocallosal syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90173734
- GRCh38:
- Chr15:89630503
| KIF7 | | Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90173584
- GRCh38:
- Chr15:89630353
| KIF7 | | Acrocallosal syndrome | Benign/Likely benign
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90171923
- GRCh38:
- Chr15:89628692
| KIF7 | | Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Aug 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90171725
- GRCh38:
- Chr15:89628494
| KIF7 | | Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Mar 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90171614
- GRCh38:
- Chr15:89628383
| KIF7 | | Acrocallosal syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171613
- GRCh38:
- Chr15:89628382
| KIF7 | | Acrocallosal syndrome | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171563
- GRCh38:
- Chr15:89628332
| KIF7 | | Acrocallosal syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171517
- GRCh38:
- Chr15:89628286
| KIF7 | | Acrocallosal syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171459
- GRCh38:
- Chr15:89628228
| KIF7 | | Acrocallosal syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171412
- GRCh38:
- Chr15:89628181
| KIF7 | | Acrocallosal syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171306
- GRCh38:
- Chr15:89628075
| KIF7 | | Acrocallosal syndrome | Benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90171219-90171220
- GRCh38:
- Chr15:89627988-89627989
| KIF7, TICRR | | Acrocallosal syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:90174920
- GRCh38:
- Chr15:89631689
| KIF7 | R973G | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2,
Acrocallosal syndrome, not provided | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90196090
- GRCh38:
- Chr15:89652859
| KIF7 | | Acrocallosal syndrome, not provided | Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90176085
- GRCh38:
- Chr15:89632854
| KIF7 | T954M | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90185609
- GRCh38:
- Chr15:89642378
| KIF7 | Q740R | Acrocallosal syndrome, not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172609
- GRCh38:
- Chr15:89629378
| KIF7 | | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90188330
- GRCh38:
- Chr15:89645099
| KIF7 | R702Q | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2,
Multiple epiphyseal dysplasia, Al-Gazali type, not provided, Acrocallosal syndrome
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176924
- GRCh38:
- Chr15:89633693
| KIF7 | R862H | not provided, Acrocallosal syndrome | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90185591
- GRCh38:
- Chr15:89642360
| KIF7 | R746Q | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90174717
- GRCh38:
- Chr15:89631486
| KIF7 | | not specified, Acrocallosal syndrome | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191752
- GRCh38:
- Chr15:89648521
| KIF7 | G393C | Inborn genetic diseases, Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type,
Hydrolethalus syndrome 2, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90177089
- GRCh38:
- Chr15:89633858
| KIF7 | T807M | Hydrolethalus syndrome 2, Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type,
not provided, Acrocallosal syndrome | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191740
- GRCh38:
- Chr15:89648509
| KIF7 | A397T | not specified, Acrocallosal syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90174907
- GRCh38:
- Chr15:89631676
| KIF7 | R977Q | not provided, Acrocallosal syndrome | Uncertain significance
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90196066
- GRCh38:
- Chr15:89652835
| KIF7 | | Acrocallosal syndrome, not specified | Likely benign
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90192468
- GRCh38:
- Chr15:89649237
| KIF7 | | not specified, Acrocallosal syndrome | Likely benign
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90192492
- GRCh38:
- Chr15:89649261
| KIF7 | | Acrocallosal syndrome, not specified, not provided
| Likely benign
(Dec 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90171722
- GRCh38:
- Chr15:89628491
| KIF7 | | not specified, Acrocallosal syndrome, not provided
| Conflicting interpretations of pathogenicity
(Oct 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90172035
- GRCh38:
- Chr15:89628804
| KIF7 | | Acrocallosal syndrome, not specified, not provided
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172282
- GRCh38:
- Chr15:89629051
| KIF7 | | Acrocallosal syndrome, not specified | Likely benign
(May 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172289
- GRCh38:
- Chr15:89629058
| KIF7 | | Acrocallosal syndrome, not specified | Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172370
- GRCh38:
- Chr15:89629139
| KIF7 | | Acrocallosal syndrome, not specified | Likely benign
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90173635
- GRCh38:
- Chr15:89630404
| KIF7 | | not specified, Acrocallosal syndrome | Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90173644
- GRCh38:
- Chr15:89630413
| KIF7 | | Acrocallosal syndrome, not specified | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90173741
- GRCh38:
- Chr15:89630510
| KIF7 | | not specified, Acrocallosal syndrome | Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90173734-90173735
- GRCh38:
- Chr15:89630503-89630504
| KIF7 | | not provided, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome,
not specified, Hydrolethalus syndrome 2 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90195868
- GRCh38:
- Chr15:89652637
| KIF7 | | not specified, Acrocallosal syndrome, not provided
| Benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176170
- GRCh38:
- Chr15:89632939
| KIF7 | | not specified, not provided, Acrocallosal syndrome
| Likely benign
(Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176906
- GRCh38:
- Chr15:89633675
| KIF7 | | not specified, Acrocallosal syndrome | Benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90185649
- GRCh38:
- Chr15:89642418
| KIF7 | | not specified, Acrocallosal syndrome, not provided
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90188356
- GRCh38:
- Chr15:89645125
| KIF7 | | not specified, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90189161
- GRCh38:
- Chr15:89645930
| KIF7 | E629K | Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type,
Acrocallosal syndrome, not specified | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90190048
- GRCh38:
- Chr15:89646817
| KIF7 | | not specified, not provided, Hydrolethalus syndrome 2,
Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90177008
- GRCh38:
- Chr15:89633777
| KIF7 | Q834R | not specified, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90174920
- GRCh38:
- Chr15:89631689
| KIF7 | R973* | Acrocallosal syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172792
- GRCh38:
- Chr15:89629561
| KIF7 | R1111* | Acrocallosal syndrome | Pathogenic
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90174893
- GRCh38:
- Chr15:89631662
| KIF7 | E982* | Acrocallosal syndrome | Pathogenic
(Feb 23, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90188647
- GRCh38:
- Chr15:89645416
| KIF7 | A653V | not provided, Acrocallosal syndrome | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191569
- GRCh38:
- Chr15:89648338
| KIF7 | | Acrocallosal syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90191663
- GRCh38:
- Chr15:89648432
| KIF7 | | not provided, not specified, Acrocallosal syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191500
- GRCh38:
- Chr15:89648269
| KIF7 | A477T | Acrocallosal syndrome, Multiple epiphyseal dysplasia, Al-Gazali type, Hydrolethalus syndrome 2,
not specified, not provided, Acrocallosal syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191659
- GRCh38:
- Chr15:89648428
| KIF7 | R424C | not provided, Acrocallosal syndrome | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90192991
- GRCh38:
- Chr15:89649760
| KIF7 | | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90193165
- GRCh38:
- Chr15:89649934
| KIF7 | | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90196101
- GRCh38:
- Chr15:89652870
| KIF7 | R21* | not provided, Acrocallosal syndrome | Pathogenic/Likely pathogenic
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90171738
- GRCh38:
- Chr15:89628507
| KIF7 | P1315L | not specified, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90171887
- GRCh38:
- Chr15:89628656
| KIF7 | | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90171768
- GRCh38:
- Chr15:89628537
| KIF7 | R1305Q | Inborn genetic diseases, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90172022
- GRCh38:
- Chr15:89628791
| KIF7 | | not specified, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90171684
- GRCh38:
- Chr15:89628453
| KIF7 | P1333Q | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90173625
- GRCh38:
- Chr15:89630394
| KIF7 | R1071W | not provided, Acrocallosal syndrome | Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90174856
- GRCh38:
- Chr15:89631625
| KIF7 | Q994R | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90176418
- GRCh38:
- Chr15:89633187
| KIF7 | R891T | not provided, Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome
| Uncertain significance
(Jan 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176923
- GRCh38:
- Chr15:89633692
| KIF7 | | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90185592
- GRCh38:
- Chr15:89642361
| KIF7 | R746W | Multiple epiphyseal dysplasia, Al-Gazali type, not provided, Acrocallosal syndrome
| Uncertain significance
(Jan 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90185493
- GRCh38:
- Chr15:89642262
| KIF7 | E779Q | not specified, not provided, Acrocallosal syndrome
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90196166
- GRCh38:
- Chr15:89652935
| KIF7 | | not specified, Acrocallosal syndrome | Benign/Likely benign
(Apr 27, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90196113
- GRCh38:
- Chr15:89652882
| KIF7 | R17W | not specified, not provided, Acrocallosal syndrome
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90171683
- GRCh38:
- Chr15:89628452
| KIF7 | | not specified, Acrocallosal syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172600
- GRCh38:
- Chr15:89629369
| KIF7 | | not specified, not provided, Hydrolethalus syndrome 2,
Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90172778
- GRCh38:
- Chr15:89629547
| KIF7 | H1115Q | Acrocallosal syndrome, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type,
not specified, not provided, Hydrolethalus syndrome 2,
Acrocallosal syndrome | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90174825
- GRCh38:
- Chr15:89631594
| KIF7 | | not specified, Acrocallosal syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176432
- GRCh38:
- Chr15:89633201
| KIF7 | | not specified, not provided, Hydrolethalus syndrome 2,
Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90177028
- GRCh38:
- Chr15:89633797
| KIF7 | | not specified, Acrocallosal syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90185557
- GRCh38:
- Chr15:89642326
| KIF7 | | not specified, Acrocallosal syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90195946
- GRCh38:
- Chr15:89652715
| KIF7 | | not specified, not provided, Acrocallosal syndrome
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90188392
- GRCh38:
- Chr15:89645161
| KIF7 | | not specified, Acrocallosal syndrome | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90195967
- GRCh38:
- Chr15:89652736
| KIF7 | | not specified, not provided, Hydrolethalus syndrome 2,
Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90189151
- GRCh38:
- Chr15:89645920
| KIF7 | P632L | not specified, not provided, Acrocallosal syndrome
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90196008
- GRCh38:
- Chr15:89652777
| KIF7 | D52N | not specified, not provided, Hydrolethalus syndrome 2,
Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome | Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90190947
- GRCh38:
- Chr15:89647716
| KIF7 | | not specified, not provided, Acrocallosal syndrome
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191709
- GRCh38:
- Chr15:89648478
| KIF7 | A407D | Inborn genetic diseases, not specified, not provided,
Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90192516
- GRCh38:
- Chr15:89649285
| KIF7 | | not specified, not provided, Acrocallosal syndrome
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90192985
- GRCh38:
- Chr15:89649754
| KIF7 | | not specified, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90174789
- GRCh38:
- Chr15:89631558
| KIF7 | | Multiple epiphyseal dysplasia, Al-Gazali type, not specified, Acrocallosal syndrome,
not provided, Hydrolethalus syndrome 2 | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90174816
- GRCh38:
- Chr15:89631585
| KIF7 | | not provided, Acrocallosal syndrome | Conflicting interpretations of pathogenicity
(Sep 4, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:90174824
- GRCh38:
- Chr15:89631593
| KIF7 | G1005R | not specified, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type,
not provided, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90174955
- GRCh38:
- Chr15:89631724
| KIF7 | | not specified, Multiple epiphyseal dysplasia, Al-Gazali type, not provided,
Hydrolethalus syndrome 2, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176073
- GRCh38:
- Chr15:89632842
| KIF7 | S958I | not specified, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type,
not provided, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90176239-90176240
- GRCh38:
- Chr15:89633008-89633009
| KIF7 | | Acrocallosal syndrome, not provided | Benign/Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90191827
- GRCh38:
- Chr15:89648596
| KIF7 | T368A | not provided, Hydrolethalus syndrome 2, Multiple epiphyseal dysplasia, Al-Gazali type,
not specified, Acrocallosal syndrome | Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90171685-90171696
- GRCh38:
- Chr15:89628454-89628465
| KIF7 | | not provided, Acrocallosal syndrome | Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90192441
- GRCh38:
- Chr15:89649210
| KIF7 | R230fs | Acrocallosal syndrome | Pathogenic
(Jun 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:90192540-90192541
- GRCh38:
- Chr15:89649309-89649310
| KIF7 | E197fs | Acrocallosal syndrome | Pathogenic
(Jun 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:90174836
- GRCh38:
- Chr15:89631605
| KIF7 | Q1001* | Acrocallosal syndrome | Pathogenic
(Aug 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:90193041
- GRCh38:
- Chr15:89649810
| KIF7 | R154* | Acrocallosal syndrome | Pathogenic
(Jun 1, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr15:90174940-90174941
- GRCh38:
- Chr15:89631709-89631710
| KIF7 | A966fs | Multiple epiphyseal dysplasia, Al-Gazali type, Acrocallosal syndrome | Pathogenic
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |