| - GRCh37:
- Chr10:13325831-13325832
- GRCh38:
- Chr10:13283831-13283832
| PHYH | V129fs, V131fs, V141fs, V229fs, V231fs | Phytanic acid storage disease | Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13333839
- GRCh38:
- Chr10:13291839
| PHYH | P163fs, P63fs | Phytanic acid storage disease | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13330398
- GRCh38:
- Chr10:13288398
| PHYH | K114*, K116*, K214*, K216* | Phytanic acid storage disease | Likely pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13330536
- GRCh38:
- Chr10:13288536
| PHYH | K168*, K170*, K68*, K70* | Phytanic acid storage disease | Likely pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13325834
- GRCh38:
- Chr10:13283834
| PHYH | V129fs, V131fs, V141fs, V229fs, V231fs | Phytanic acid storage disease | Likely pathogenic
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13330488-13330489
- GRCh38:
- Chr10:13288488-13288489
| PHYH | R184fs, R186fs, R84fs, R86fs | Phytanic acid storage disease | Likely pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13325707
- GRCh38:
- Chr10:13283707
| PHYH | T171fs, T173fs, T183fs, T271fs, T273fs | Phytanic acid storage disease | Likely pathogenic
(Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13330532
- GRCh38:
- Chr10:13288532
| PHYH | T171M, T71M, T169M, T69M | Phytanic acid storage disease, not provided | Uncertain significance
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13340293
- GRCh38:
- Chr10:13298293
| PHYH | | not provided, Phytanic acid storage disease | Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137193395
- GRCh38:
- Chr6:136872257
| PEX7 | | Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B, Phytanic acid storage disease,
Rhizomelic chondrodysplasia punctata type 1, not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13323093
- GRCh38:
- Chr10:13281093
| PHYH | | not provided, Phytanic acid storage disease | Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137143932
- GRCh38:
- Chr6:136822794
| PEX7 | | Peroxisome biogenesis disorder 9B, Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1,
Peroxisome biogenesis disorder 9B | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13337497
- GRCh38:
- Chr10:13295497
| PHYH | R82W | not provided, Phytanic acid storage disease | Uncertain significance
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137187792
- GRCh38:
- Chr6:136866654
| PEX7 | V185A | Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Phytanic acid storage disease,
Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1 | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325839
- GRCh38:
- Chr10:13283839
| PHYH | G139W, G229W, G129W, G227W, G127W | Inborn genetic diseases, not provided, Phytanic acid storage disease
| Uncertain significance
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325779
- GRCh38:
- Chr10:13283779
| PHYH | H147Y, H247Y, H149Y, H159Y, H249Y | not provided, Phytanic acid storage disease | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325686
- GRCh38:
- Chr10:13283686
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13322991
- GRCh38:
- Chr10:13280991
| PHYH | | Phytanic acid storage disease, not provided | Conflicting interpretations of pathogenicity
(Aug 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13320276
- GRCh38:
- Chr10:13278276
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13340238
- GRCh38:
- Chr10:13298238
| PHYH | H28R | not provided, Phytanic acid storage disease | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13320113
- GRCh38:
- Chr10:13278113
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13320048
- GRCh38:
- Chr10:13278048
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13319884
- GRCh38:
- Chr10:13277884
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13319867
- GRCh38:
- Chr10:13277867
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13319802
- GRCh38:
- Chr10:13277802
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13330543
- GRCh38:
- Chr10:13288543
| PHYH | | Retinal dystrophy, Phytanic acid storage disease, not provided
| Likely pathogenic
(Sep 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325815
- GRCh38:
- Chr10:13283815
| PHYH | G235R, G135R, G147R, G237R, G137R | Phytanic acid storage disease, not provided | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13337497
- GRCh38:
- Chr10:13295497
| PHYH | R82G | not provided, Phytanic acid storage disease, not specified
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13336426
- GRCh38:
- Chr10:13294426
| PHYH | | Phytanic acid storage disease | Likely pathogenic
(Jun 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13330415-13330417
- GRCh38:
- Chr10:13288415-13288417
| PHYH | V208del, V110del, V210del, V108del | not provided, Phytanic acid storage disease | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13342018-13342019
- GRCh38:
- Chr10:13300018-13300019
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Nov 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:137234595
- GRCh38:
- Chr6:136913457
| PEX7 | | Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B,
Rhizomelic chondrodysplasia punctata type 1 | Uncertain significance
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137191089
- GRCh38:
- Chr6:136869951
| PEX7 | R232Q | not provided, Peroxisome biogenesis disorder 9B, Phytanic acid storage disease,
Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:137143889
- GRCh38:
- Chr6:136822751
| PEX7 | P29L | not provided, Peroxisome biogenesis disorder 9B, Phytanic acid storage disease,
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B, Inborn genetic diseases
| Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13336488
- GRCh38:
- Chr10:13294488
| PHYH | I118M, I18M | not provided, Phytanic acid storage disease | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137147545
- GRCh38:
- Chr6:136826407
| PEX7 | Q93* | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Connective tissue disorder,
Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
| Pathogenic/Likely pathogenic
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137234964-137234969
- GRCh38:
- Chr6:136913826-136913831
| PEX7 | | Rhizomelic chondrodysplasia punctata, Phytanic acid storage disease | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:137234919-137234920
- GRCh38:
- Chr6:136913781-136913782
| PEX7 | | not provided, Rhizomelic chondrodysplasia punctata, Phytanic acid storage disease
| Benign
(Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137143727
- GRCh38:
- Chr6:136822589
| PEX7 | | Rhizomelic chondrodysplasia punctata, Phytanic acid storage disease | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:137143716
- GRCh38:
- Chr6:136822578
| PEX7 | | Rhizomelic chondrodysplasia punctata, Phytanic acid storage disease | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:137143713
- GRCh38:
- Chr6:136822575
| PEX7 | | Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13342120
- GRCh38:
- Chr10:13300120
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13342062
- GRCh38:
- Chr10:13300062
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13340254
- GRCh38:
- Chr10:13298254
| PHYH | | Phytanic acid storage disease, not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13340228
- GRCh38:
- Chr10:13298228
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13340195
- GRCh38:
- Chr10:13298195
| PHYH | | not provided, Phytanic acid storage disease | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13337565
- GRCh38:
- Chr10:13295565
| PHYH | K59T | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13337496
- GRCh38:
- Chr10:13295496
| PHYH | R82Q | Phytanic acid storage disease, not provided | Uncertain significance
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13336521
- GRCh38:
- Chr10:13294521
| PHYH | | Phytanic acid storage disease, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13336521
- GRCh38:
- Chr10:13294521
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13336486
- GRCh38:
- Chr10:13294486
| PHYH | T119M, T19M | not provided, Phytanic acid storage disease | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13333923
- GRCh38:
- Chr10:13291923
| PHYH | | Phytanic acid storage disease, not provided | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13330464
- GRCh38:
- Chr10:13288464
| PHYH | A192T, A92T, A194T, A94T | Phytanic acid storage disease, not provided, Inborn genetic diseases
| Uncertain significance
(May 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13330457
- GRCh38:
- Chr10:13288457
| PHYH | T194M, T96M, T196M, T94M | not provided, Phytanic acid storage disease | Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13330437
- GRCh38:
- Chr10:13288437
| PHYH | R201G, R101G, R103G, R203G | not provided, Phytanic acid storage disease | Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13330432
- GRCh38:
- Chr10:13288432
| PHYH | N202K, N204K, N104K, N102K | Inborn genetic diseases, not provided, Phytanic acid storage disease
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13330395
- GRCh38:
- Chr10:13288395
| PHYH | G215S, G115S, G117S, G217S | not provided, Phytanic acid storage disease | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13330345
- GRCh38:
- Chr10:13288345
| PHYH | | not provided, Phytanic acid storage disease | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325850
- GRCh38:
- Chr10:13283850
| PHYH | | Phytanic acid storage disease | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13325726
- GRCh38:
- Chr10:13283726
| PHYH | | not provided, Phytanic acid storage disease | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13323113
- GRCh38:
- Chr10:13281113
| PHYH | | not provided, Phytanic acid storage disease | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13320338
- GRCh38:
- Chr10:13278338
| PHYH | R327Q, R229Q, R239Q, R227Q, R329Q | not provided, Phytanic acid storage disease | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13320309
- GRCh38:
- Chr10:13278309
| PHYH | N337D, N339D, N237D, N239D, N249D | not provided, Phytanic acid storage disease | Uncertain significance
(Jul 30, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13320279
- GRCh38:
- Chr10:13278279
| PHYH | | Phytanic acid storage disease | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13320254
- GRCh38:
- Chr10:13278254
| PHYH | | Phytanic acid storage disease | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13320236
- GRCh38:
- Chr10:13278236
| PHYH | | not provided, Phytanic acid storage disease | Benign
(Aug 7, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13320112
- GRCh38:
- Chr10:13278112
| PHYH | | not provided, Phytanic acid storage disease | Benign
(Aug 10, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137166790
- GRCh38:
- Chr6:136845652
| PEX7 | Q126P | Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, not specified,
Connective tissue disorder, Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1,
Peroxisome biogenesis disorder 9B, not provided | Benign/Likely benign
(Jun 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325751-13325752
- GRCh38:
- Chr10:13283751-13283752
| PHYH | V158fs, V258fs, V156fs, V168fs, V256fs | Phytanic acid storage disease | Likely pathogenic
(Jun 12, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr10:13325784
- GRCh38:
- Chr10:13283784
| PHYH | R245Q, R145Q, R247Q, R147Q, R157Q | not specified, not provided, Phytanic acid storage disease,
Vitamin D-dependent rickets type II with alopecia | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:13330355
- GRCh38:
- Chr10:13288355
| PHYH | | Retinal dystrophy, not provided, Phytanic acid storage disease
| Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:137146410
- GRCh38:
- Chr6:136825272
| PEX7 | | Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B,
not provided, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
| Pathogenic/Likely pathogenic
(Jun 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325801
- GRCh38:
- Chr10:13283801
| PHYH | | not specified, not provided, Phytanic acid storage disease
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13337588
- GRCh38:
- Chr10:13295588
| PHYH | | not provided, not specified, Phytanic acid storage disease
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13330402
- GRCh38:
- Chr10:13288402
| PHYH | | not specified, not provided, Phytanic acid storage disease
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137143759
- GRCh38:
- Chr6:136822621
| PEX7 | | Phytanic acid storage disease | not provided | no assertion provided |
| - GRCh37:
- Chr6:137143923
- GRCh38:
- Chr6:136822785
| PEX7 | Y40* | Inborn genetic diseases, PEX7-Related Disorders, Rhizomelic chondrodysplasia punctata type 1,
Phytanic acid storage disease, Peroxisome biogenesis disorder 9B, not provided,
Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1 | Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137166743
- GRCh38:
- Chr6:136845605
| PEX7 | | not provided, Peroxisome biogenesis disorder 9B, Phytanic acid storage disease,
Rhizomelic chondrodysplasia punctata type 1 | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:137219380
- GRCh38:
- Chr6:136898242
| PEX7 | | PEX7-Related Disorders, Rhizomelic chondrodysplasia punctata type 1, Phytanic acid storage disease,
Peroxisome biogenesis disorder 9B, not provided, Peroxisome biogenesis disorder 9B,
Rhizomelic chondrodysplasia punctata type 1 | Pathogenic
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137191047
- GRCh38:
- Chr6:136869909
| PEX7 | A218V | Peroxisome biogenesis disorder 9B, Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1,
Peroxisome biogenesis disorder 9B, not provided, Rhizomelic chondrodysplasia punctata type 1
| Pathogenic/Likely pathogenic
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:137219351
- GRCh38:
- Chr6:136898213
| PEX7 | L292* | PEX7-Related Disorders, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1,
Phytanic acid storage disease, not provided, Peroxisome biogenesis disorder 9B,
Rhizomelic chondrodysplasia punctata type 1 | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13340236
- GRCh38:
- Chr10:13298236
| PHYH | P29S | not provided, not specified, Phytanic acid storage disease
| Benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13337608
- GRCh38:
- Chr10:13295608
| PHYH | | not provided, Phytanic acid storage disease, Retinitis pigmentosa
| Pathogenic
(Aug 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:13325695
- GRCh38:
- Chr10:13283695
| PHYH | R275W, R175W, R177W, R277W, R187W | Inborn genetic diseases, not provided, Phytanic acid storage disease,
Retinitis pigmentosa | Pathogenic/Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |