| - GRCh37:
- Chr1:21889634
- GRCh38:
- Chr1:21563141
| ALPL | S110N, S33N, S55N | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia
| Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21890571
- GRCh38:
- Chr1:21564078
| ALPL | H116fs, H171fs, H94fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21894664-21894667
- GRCh38:
- Chr1:21568171-21568174
| ALPL | D162fs, D184fs, D239fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21889737-21889740
- GRCh38:
- Chr1:21563244-21563247
| ALPL | N145fs, N68fs, N90fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21889699
- GRCh38:
- Chr1:21563206
| ALPL | A132fs, A55fs, A77fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21900202-21900203
- GRCh38:
- Chr1:21573709-21573710
| ALPL | N226fs, N248fs, N303fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21890627-21890628
- GRCh38:
- Chr1:21564134-21564135
| ALPL | D112fs, D134fs, D189fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21902279
- GRCh38:
- Chr1:21575786
| ALPL | E274*, E296*, E351* | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21894698-21894699
- GRCh38:
- Chr1:21568205-21568206
| ALPL | D174fs, D196fs, D251fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21890642-21890643
- GRCh38:
- Chr1:21564149-21564150
| ALPL | P117fs, P139fs, P194fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Nov 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21896802
- GRCh38:
- Chr1:21570309
| ALPL | H190fs, H212fs, H267fs | Adult hypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
| Likely pathogenic
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21904005
- GRCh38:
- Chr1:21577512
| ALPL | V403fs, V425fs, V480fs | Infantile hypophosphatasia | Likely pathogenic
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21903132
- GRCh38:
- Chr1:21576639
| ALPL | Y359S, Y381S, Y436S | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia
| Uncertain significance
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21902428
- GRCh38:
- Chr1:21575935
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887649
- GRCh38:
- Chr1:21561156
| ALPL | P81S, P26S | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Uncertain significance
(Mar 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21894596
- GRCh38:
- Chr1:21568103
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely pathogenic
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21902358
- GRCh38:
- Chr1:21575865
| ALPL | A377V, A300V, A322V | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Pathogenic/Likely pathogenic
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889759
- GRCh38:
- Chr1:21563266
| ALPL | R75C, R97C, R152C | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided, Osteogenesis imperfecta | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21902348
- GRCh38:
- Chr1:21575855
| ALPL | V297M, V319M, V374M | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Pathogenic/Likely pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21902411
- GRCh38:
- Chr1:21575918
| ALPL | I395V, I318V, I340V | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia, Hypophosphatasia | Pathogenic/Likely pathogenic
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890612
- GRCh38:
- Chr1:21564119
| ALPL | R107Q, R184Q, R129Q | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Pathogenic
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21900226
- GRCh38:
- Chr1:21573733
| ALPL | E256K, E311K, E234K | Infantile hypophosphatasia, not provided | Pathogenic/Likely pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887655
- GRCh38:
- Chr1:21561162
| ALPL | E28*, E83* | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
Hypophosphatasia | Pathogenic/Likely pathogenic
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890608
- GRCh38:
- Chr1:21564115
| ALPL | D106N, D128N, D183N | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia
| Uncertain significance
(Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21900143
- GRCh38:
- Chr1:21573650
| ALPL | | Infantile hypophosphatasia, Childhood hypophosphatasia, Adult hypophosphatasia,
not provided | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21894694
- GRCh38:
- Chr1:21568201
| ALPL | G172A, G194A, G249A | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21903993
- GRCh38:
- Chr1:21577500
| ALPL | E399A, E421A, E476A | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided, Hypophosphatasia | Pathogenic/Likely pathogenic
(Mar 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21880466
- GRCh38:
- Chr1:21553973
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Sep 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890522
- GRCh38:
- Chr1:21564029
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:33131514
- GRCh38:
- Chr6:33163737
| COL11A2 | L1611V, L1632V, L1718V | not provided | Uncertain significance
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890464
- GRCh38:
- Chr1:21563971
| ALPL | | not provided, Adult hypophosphatasia, Infantile hypophosphatasia,
Childhood hypophosphatasia | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889506
- GRCh38:
- Chr1:21563013
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21902950
- GRCh38:
- Chr1:21576457
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21896925
- GRCh38:
- Chr1:21570432
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21896918
- GRCh38:
- Chr1:21570425
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21894816
- GRCh38:
- Chr1:21568323
| ALPL | | Adult hypophosphatasia, not provided, Childhood hypophosphatasia,
Infantile hypophosphatasia | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887690
- GRCh38:
- Chr1:21561197
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Feb 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21902275
- GRCh38:
- Chr1:21575782
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21904021
- GRCh38:
- Chr1:21577528
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21900213
- GRCh38:
- Chr1:21573720
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889644
- GRCh38:
- Chr1:21563151
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21903871
- GRCh38:
- Chr1:21577378
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Apr 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21900150
- GRCh38:
- Chr1:21573657
| ALPL | | not provided, Childhood hypophosphatasia, Infantile hypophosphatasia,
Adult hypophosphatasia | Likely benign
(Mar 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21894608
- GRCh38:
- Chr1:21568115
| ALPL | | not provided, Childhood hypophosphatasia, Infantile hypophosphatasia,
Adult hypophosphatasia | Likely benign
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21902284
- GRCh38:
- Chr1:21575791
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890643
- GRCh38:
- Chr1:21564150
| ALPL | | Infantile hypophosphatasia, Childhood hypophosphatasia, Adult hypophosphatasia,
Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889698
- GRCh38:
- Chr1:21563205
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Jul 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21902371
- GRCh38:
- Chr1:21575878
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889608
- GRCh38:
- Chr1:21563115
| ALPL | Y101*, Y24*, Y46* | not provided, Infantile hypophosphatasia | Pathogenic/Likely pathogenic
(Jun 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887611
- GRCh38:
- Chr1:21561118
| ALPL | T13M, T68M | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887575
- GRCh38:
- Chr1:21561082
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21835921
- GRCh38:
- Chr1:21509428
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia
| Uncertain significance
(Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21890678
- GRCh38:
- Chr1:21564185
| ALPL | Y129C, Y151C, Y206C | Infantile hypophosphatasia | Likely pathogenic
(Jul 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:21903914
- GRCh38:
- Chr1:21577421
| ALPL | R450C, R395C, R373C | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890636
- GRCh38:
- Chr1:21564143
| ALPL | M137T, M192T, M115T | not specified, not provided, Infantile hypophosphatasia
| Conflicting interpretations of pathogenicity
(Jul 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21900209
- GRCh38:
- Chr1:21573716
| ALPL | T305M, T250M, T228M | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Uncertain significance
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889711
- GRCh38:
- Chr1:21563218
| ALPL | R81C, R59C, R136C | not provided, Hypophosphatasia, Childhood hypophosphatasia,
Adult hypophosphatasia | Conflicting interpretations of pathogenicity
(May 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21902305
- GRCh38:
- Chr1:21575812
| ALPL | I282M, I304M, I359M | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21900230-21900232
- GRCh38:
- Chr1:21573737-21573739
| ALPL | V238del, V260del, V315del | not specified, Adult hypophosphatasia, Infantile hypophosphatasia,
Childhood hypophosphatasia | Uncertain significance
(Nov 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887166
- GRCh38:
- Chr1:21560673
| ALPL | | not provided, Hypophosphatasia, Infantile hypophosphatasia,
Childhood hypophosphatasia, Adult hypophosphatasia | Conflicting interpretations of pathogenicity
(Apr 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21880600
- GRCh38:
- Chr1:21554107
| ALPL | A9V | Childhood hypophosphatasia, Adult hypophosphatasia, Infantile hypophosphatasia,
not provided, Hypophosphatasia, Inborn genetic diseases
| Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889655
- GRCh38:
- Chr1:21563162
| ALPL | Y117C, Y62C, Y40C | not provided, Hypophosphatasia, Adult hypophosphatasia,
Infantile hypophosphatasia, Childhood hypophosphatasia | Conflicting interpretations of pathogenicity
(Jun 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21900293
- GRCh38:
- Chr1:21573800
| ALPL | | Hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia, not provided | Pathogenic/Likely pathogenic
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889736
- GRCh38:
- Chr1:21563243
| ALPL | G144E, G67E, G89E | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21903992
- GRCh38:
- Chr1:21577499
| ALPL | E421K, E476K, E399K | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Pathogenic/Likely pathogenic
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887714
- GRCh38:
- Chr1:21561221
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21904012
- GRCh38:
- Chr1:21577519
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21903985
- GRCh38:
- Chr1:21577492
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Sep 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890589
- GRCh38:
- Chr1:21564096
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Likely benign
(Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21904048
- GRCh38:
- Chr1:21577555
| ALPL | | Childhood hypophosphatasia, Infantile hypophosphatasia, Adult hypophosphatasia,
not provided | Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21896864
- GRCh38:
- Chr1:21570371
| ALPL | | not provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia, Osteogenesis imperfecta | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889773
- GRCh38:
- Chr1:21563280
| ALPL | | not specified, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia, not provided, Hypophosphatasia
| Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21904003
- GRCh38:
- Chr1:21577510
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely benign
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21835939
- GRCh38:
- Chr1:21509446
| ALPL | | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia
| Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21902306
- GRCh38:
- Chr1:21575813
| ALPL | G360R, G283R, G305R | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Uncertain significance
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890659
- GRCh38:
- Chr1:21564166
| ALPL | G200S, G123S, G145S | Infantile hypophosphatasia | Likely pathogenic
(Dec 12, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:21902394
- GRCh38:
- Chr1:21575901
| ALPL | R314fs, R391fs, R336fs | not provided, Hypophosphatasia, Adult hypophosphatasia,
Childhood hypophosphatasia, Infantile hypophosphatasia, Adult hypophosphatasia
| Conflicting interpretations of pathogenicity
(Jul 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21902370
- GRCh38:
- Chr1:21575877
| ALPL | H381R, H304R, H326R | Infantile hypophosphatasia, not provided | Pathogenic/Likely pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21889700
- GRCh38:
- Chr1:21563207
| ALPL | A132V, A55V, A77V | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided | Likely pathogenic
(May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890671
- GRCh38:
- Chr1:21564178
| ALPL | I204V, I127V, I149V | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
Inborn genetic diseases | Uncertain significance
(Jan 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21904071
- GRCh38:
- Chr1:21577578
| ALPL | S502L, S425L, S447L | not provided, Osteogenesis imperfecta, Childhood hypophosphatasia,
Adult hypophosphatasia, Infantile hypophosphatasia | Conflicting interpretations of pathogenicity
(Sep 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21902340-21902341
- GRCh38:
- Chr1:21575847-21575848
| ALPL | L372fs, L295fs, L317fs | Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided, Infantile hypophosphatasia | Pathogenic/Likely pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21887631-21887632
- GRCh38:
- Chr1:21561138-21561139
| ALPL | L77fs, L22fs | not provided, Infantile hypophosphatasia | Pathogenic/Likely pathogenic
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21903941
- GRCh38:
- Chr1:21577448
| ALPL | V459L, V404L, V382L | not provided, Infantile hypophosphatasia | Conflicting interpretations of pathogenicity
(Aug 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21894609
- GRCh38:
- Chr1:21568116
| ALPL | G221R, G166R, G144R | not provided, Hypophosphatasia, Infantile hypophosphatasia
| Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21889697
- GRCh38:
- Chr1:21563204
| ALPL | S131fs, S76fs, S54fs | not provided, Infantile hypophosphatasia | Pathogenic/Likely pathogenic
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21903110
- GRCh38:
- Chr1:21576617
| ALPL | E429K, E374K, E352K | Infantile hypophosphatasia | Uncertain significance
(May 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21890558
- GRCh38:
- Chr1:21564065
| ALPL | T166I, T111I, T89I | Infantile hypophosphatasia | Uncertain significance
(Apr 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21887218-21887220
- GRCh38:
- Chr1:21560725-21560727
| ALPL | I55del, M1del, S17del | Infantile hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia | Uncertain significance
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21904117-21904132
- GRCh38:
- Chr1:21577624-21577639
| ALPL | Y441fs, Y463fs, Y518fs | not provided, Infantile hypophosphatasia, Hypophosphatasia
| Pathogenic/Likely pathogenic
(Dec 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:21890590
- GRCh38:
- Chr1:21564097
| ALPL | A177T, A100T, A122T | not provided, Adult hypophosphatasia, not specified,
Infantile hypophosphatasia, Inborn genetic diseases, Hypophosphatasia
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21904026
- GRCh38:
- Chr1:21577533
| ALPL | A487V, A432V, A410V | not provided, Infantile hypophosphatasia, Childhood hypophosphatasia
| Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21890690
- GRCh38:
- Chr1:21564197
| ALPL | H210R, H155R, H133R | not provided, Infantile hypophosphatasia | Conflicting interpretations of pathogenicity
(Aug 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21902360
- GRCh38:
- Chr1:21575867
| ALPL | D378H, D323H, D301H | not provided, Infantile hypophosphatasia, Hypophosphatasia
| Conflicting interpretations of pathogenicity
(Feb 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21880635
- GRCh38:
- Chr1:21554142
| ALPL | E21K | Infantile hypophosphatasia | Uncertain significance
(Feb 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21900295
- GRCh38:
- Chr1:21573802
| ALPL | | Infantile hypophosphatasia | Uncertain significance
(Jan 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21902270
- GRCh38:
- Chr1:21575777
| ALPL | A348T, A293T, A271T | Infantile hypophosphatasia, not specified, not provided
| Conflicting interpretations of pathogenicity
(May 16, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21902290
- GRCh38:
- Chr1:21575797
| ALPL | E354D, E277D, E299D | Infantile hypophosphatasia | Uncertain significance
(Dec 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:21904140
- GRCh38:
- Chr1:21577647
| ALPL | | Osteogenesis imperfecta, not provided, Infantile hypophosphatasia,
Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:21887588-21887589
- GRCh38:
- Chr1:21561095-21561096
| ALPL | | not provided, Infantile hypophosphatasia | Pathogenic/Likely pathogenic
(Sep 18, 2020) | criteria provided, multiple submitters, no conflicts |