Total 559 pathogenic variants reported for Hypophosphatasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) SNV
Germline
Chr1:21564103 Pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256919 rs_121918000

11 SubmittersRCV000014648RCV001093406RCV001582482RCV002496361RCV003466856

NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) SNV
Germline
Chr1:21561126 Pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256920 rs_121918001

7 SubmittersRCV000014649RCV001851857RCV003466857RCV004700234RCV004739304

NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) SNV
Germline
Chr1:21573683 Pathogenic Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Osteogenesis imperfecta
ALPL-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA256921 rs_121918002

18 SubmittersRCV000014650RCV000014651RCV000014652RCV000224505RCV000589324RCV002496362RCV002276545RCV004549362RCV006302137

NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) SNV
Germline
Chr1:21561127 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256922 rs_121918003

6 SubmittersRCV000014653RCV001362179RCV003460473RCV003486545

NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) SNV
Germline
Chr1:21564188 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256923 rs_121918004

6 SubmittersRCV000014654RCV000224906RCV005644483

NM_000478.6(ALPL):c.98C>T (p.Ala33Val) SNV
Germline
Chr1:21560662 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256924 rs_121918005

8 SubmittersRCV000014655RCV001042961RCV001273156RCV001333468RCV003473099RCV005016263

NM_000478.6(ALPL):c.1306T>C (p.Tyr436His) SNV
Germline
Chr1:21576638 Conflicting classifications of pathogenicity Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA256925 rs_121918006

3 SubmittersRCV000014656RCV005644484RCV006274982

NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) SNV
Germline
Chr1:21573694 Conflicting classifications of pathogenicity Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Multiple epiphyseal dysplasia
Criteria Provided
Conflicting Classifications
CA256926 rs_121918017

10 SubmittersRCV000014657RCV001549327RCV001582483RCV002504785RCV004549363RCV003460474RCV005624690

NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) SNV
Germline
Chr1:21564139 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Odontohypophosphatasia
Inborn genetic diseases
Osteogenesis imperfecta
See cases
ALPL-related disorder
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256927 rs_121918007

41 SubmittersRCV000014658RCV000014659RCV000014660RCV000207183RCV000224962RCV000763300RCV001250150RCV002513051RCV002276546RCV004584327RCV004739305RCV005867756

NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) SNV
Germline
Chr1:21575868 Pathogenic Adult hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
ALPL-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA256928 rs_121918008

17 SubmittersRCV000014662RCV000014661RCV000207084RCV000224520RCV000763302RCV001847606RCV004549364RCV004984641

NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) SNV
Germline
Chr1:21575736 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Osteogenesis imperfecta
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256929 rs_121918009

17 SubmittersRCV000014663RCV000207270RCV000224376RCV000763301RCV000786923RCV002276547RCV004549365

NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) SNV
Germline
Chr1:21573781 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA256930 rs_121918010

17 SubmittersRCV000014664RCV000380876RCV000207096RCV000724148RCV002504786RCV004549366

NM_000478.6(ALPL):c.407G>A (p.Arg136His) SNV
Germline
Chr1:21563219 Pathogenic/Likely pathogenic Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Osteogenesis imperfecta
Odontohypophosphatasia
ALPL-related autosomal recessive hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256932 rs_121918011

25 SubmittersRCV000014666RCV000169168RCV000364426RCV000767525RCV000770988RCV002490366RCV002276548RCV004798728RCV006249557

NM_000478.6(ALPL):c.485G>T (p.Gly162Val) SNV
Germline
Chr1:21564053 Pathogenic Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256933 rs_121918012

4 SubmittersRCV000014667RCV000670940RCV001239346RCV005644485

NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) SNV
Germline
Chr1:21563158 Pathogenic Odontohypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA123348 rs_121918013

13 SubmittersRCV000014670RCV000014668RCV000014669RCV000169426RCV000224118RCV000590781RCV004549367

NM_000478.6(ALPL):c.648+1G>A SNV
Germline/somatic
Chr1:21564217 Pathogenic Perinatal lethal hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA212949 rs_749544042

15 SubmittersRCV000014671RCV000710058RCV001227927RCV001553715RCV003466858RCV004549368RCV005862716RCV005016264RCV005338073

NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) SNV
Germline
Chr1:21576582 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Perinatal lethal hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
ALPL-related disorder
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphataemia or rickets
Autosomal dominant ALPL-related disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA199266 rs_121918014

24 SubmittersRCV000014672RCV000169778RCV000710510RCV001194283RCV001253058RCV004719646RCV004739306RCV005016265RCV006439573RCV006633885

NM_000478.6(ALPL):c.323C>T (p.Pro108Leu) SNV
Germline
Chr1:21563135 Pathogenic Odontohypophosphatasia
Hypophosphatasia
Criteria Provided
Single Submitter
CA123349 rs_121918015

2 SubmittersRCV000014673RCV005644486

NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) SNV
Germline
Chr1:21577439 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA256934 rs_121918016

8 SubmittersRCV000014674RCV001387538RCV003448247RCV004786260

NM_000478.6(ALPL):c.746G>T (p.Gly249Val) SNV
Germline
Chr1:21568201 Pathogenic Childhood hypophosphatasia
Odontohypophosphatasia
Condition: not provided
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA123350 rs_121918018

13 SubmittersRCV000014675RCV000014676RCV000723607RCV000668001RCV001826462RCV003466859RCV003335039

NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) SNV
Germline
Chr1:21564094 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Childhood hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
ALPL-related disorder
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA256935 rs_121918019

22 SubmittersRCV000014677RCV000014678RCV000763299RCV000808101RCV001275108RCV002276549RCV002288490RCV004549369RCV006277646

NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) SNV
Germline
Chr1:21570326 Pathogenic Infantile hypophosphatasia
Childhood hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Autosomal recessive ALPL-related disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA256936 rs_121918020

10 SubmittersRCV000014679RCV000169779RCV000817506RCV001804731RCV003473100RCV005007851RCV004549370RCV006633886

NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) SNV
Germline
Chr1:21561130 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA274142 rs_781264043

7 SubmittersRCV000169295RCV001204937RCV003474904RCV004552944RCV005008090RCV005645030

NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) SNV
Germline
Chr1:21564110 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Inborn genetic diseases
Childhood hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA273974 rs_199590449

13 SubmittersRCV000169128RCV000729215RCV001196302RCV002265652RCV002505222RCV002516529RCV003462265

NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) SNV
Germline
Chr1:21568122 Pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA274235 rs_766076920

7 SubmittersRCV000169383RCV001208323RCV001831990RCV003468842

NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) SNV
Germline
Chr1:21568246 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA273908 rs_786204442

6 SubmittersRCV000169064RCV001264499RCV001378582RCV002498840RCV003462263

NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) SNV
Germline
Chr1:21570321 Pathogenic Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Autosomal recessive ALPL-related disorders
Criteria Provided
Multiple Submitters
No Conflicts
CA274277 rs_786204634

9 SubmittersRCV000169412RCV001582665RCV002515199RCV003468843RCV005008091RCV006554486

NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) SNV
Germline
Chr1:21573673 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA273965 rs_786204473

6 SubmittersRCV000169122RCV002515193RCV005645029

NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) SNV
Germline
Chr1:21573693 Pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA274381 rs_755529290

6 SubmittersRCV000169514RCV001850403RCV003468845RCV004586588

NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) SNV
Germline
Chr1:21563210 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA245945 rs_184095519

4 SubmittersRCV000178776RCV001835709

NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) SNV
Germline
Chr1:21563248 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Inborn genetic diseases
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA245947 rs_138587317

12 SubmittersRCV000178777RCV001096294RCV002515269RCV005008106

NM_000478.6(ALPL):c.673T>C (p.Tyr225His) SNV
Germline
Chr1:21568128 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666578 rs_759125473

6 SubmittersRCV000393235RCV002509350RCV002494864RCV005645067

NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) SNV
Germline
Chr1:21573722 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666680 rs_768555495

6 SubmittersRCV000322603RCV003463768RCV002509351RCV005008257

NM_000478.6(ALPL):c.818C>T (p.Thr273Met) SNV
Germline
Chr1:21570330 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
not specified
Inborn genetic diseases
ALPL-related disorder
Criteria Provided
Conflicting Classifications
CA666627 rs_148405563

13 SubmittersRCV000263557RCV000710516RCV001820834RCV002519300RCV004549605

NM_000478.6(ALPL):c.612C>T (p.Ile204=) SNV
Germline
Chr1:21564180 Conflicting classifications of pathogenicity Hypophosphatasia
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666538 rs_141448778

9 SubmittersRCV001098040RCV001660555RCV000398912

NM_000478.6(ALPL):c.1002C>T (p.Gly334=) SNV
Germline
Chr1:21575737 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
not specified
Hepatocellular carcinoma
Criteria Provided
Conflicting Classifications
CA666719 rs_370122334

7 SubmittersRCV000388202RCV000726419RCV003488505RCV005895886

NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) SNV
Germline
Chr1:21563225 Conflicting classifications of pathogenicity Hypophosphatasia
not specified
Condition: not provided
Inborn genetic diseases
ALPL-related disorder
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666480 rs_140167865

9 SubmittersRCV000404402RCV000502406RCV000941105RCV004021421RCV004739667RCV005016688

NM_000478.6(ALPL):c.1329G>A (p.Ala443=) SNV
Germline
Chr1:21577402 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666827 rs_756394364

2 SubmittersRCV000341004RCV001425435

NM_000478.6(ALPL):c.107C>T (p.Thr36Ile) SNV
Germline
Chr1:21560671 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10609815 rs_199952414

2 SubmittersRCV000309784RCV005090425

NM_000478.6(ALPL):c.1131G>A (p.Ala377=) SNV
Germline
Chr1:21575866 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666738 rs_777986840

2 SubmittersRCV000385133RCV001486728

NM_000478.6(ALPL):c.648C>T (p.Asp216=) SNV
Germline
Chr1:21564216 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
ALPL-related disorder
Criteria Provided
Conflicting Classifications
CA666544 rs_201739155

4 SubmittersRCV000317133RCV001363813RCV004549650

NM_000478.6(ALPL):c.61+2T>G SNV
Germline
Chr1:21554144 Likely pathogenic Infantile hypophosphatasia
ALPL-related disorder
Condition: not provided
Ovarian serous cystadenocarcinoma
Criteria Provided
Single Submitter
CA666363 rs_764322898

4 SubmittersRCV000409382RCV004549832RCV006462573RCV005900629

NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) SNV
Germline
Chr1:21560652 Pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA16040712 rs_1057516334

5 SubmittersRCV000410316RCV001050992RCV002502420RCV005418102

NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) SNV
Germline
Chr1:21560694 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16040714 rs_1057516293

4 SubmittersRCV000408970RCV001175579RCV001389814

NM_000478.6(ALPL):c.297+2T>A SNV
Unknown
Chr1:21561214 Likely pathogenic Infantile hypophosphatasia No Assertion Criteria Provided
CA16040715 rs_1057517304

1 SubmittersRCV000411240

NM_000478.6(ALPL):c.997+2T>G SNV
Germline
Chr1:21573801 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA16040720 rs_1057517391

5 SubmittersRCV000410728RCV001214322RCV005010297RCV005645079RCV006554516

NM_000478.6(ALPL):c.998-2A>G SNV
Germline
Chr1:21575731 Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Single Submitter
CA16040721 rs_1057516622

2 SubmittersRCV000412264RCV003558360

NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) SNV
Germline
Chr1:21575879 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666741 rs_771540767

5 SubmittersRCV000411905RCV001861389RCV004796165RCV005645077

NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) SNV
Germline
Chr1:21577436 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666834 rs_149889416

10 SubmittersRCV000411942RCV000778967RCV001045527RCV001580493RCV003470350RCV005018702

NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) SNV
Germline
Chr1:21577499 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA16040723 rs_1057517173

4 SubmittersRCV000410612RCV004567887RCV005010294RCV006458327

NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) SNV
Germline
Chr1:21568237 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666603 rs_765149569

6 SubmittersRCV000418497RCV001828429RCV002480316

NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) SNV
Germline
Chr1:21568123 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA666577 rs_199665722

9 SubmittersRCV000428517RCV000984145RCV001833531RCV003470381RCV002480299RCV005869420

NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) SNV
Germline
Chr1:21561142 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA16603529 rs_1057521085

5 SubmittersRCV000418683RCV002278676RCV004567908RCV005645085

NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) SNV
Germline
Chr1:21575739 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA16603569 rs_1057524727

5 SubmittersRCV000733233RCV003482143

NM_000478.6(ALPL):c.283G>A (p.Val95Met) SNV
Germline
Chr1:21561198 Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666442 rs_139811782

10 SubmittersRCV000490714RCV001067182RCV001273158RCV001535923RCV001580504RCV002279265RCV003470594RCV004568606

NM_000478.6(ALPL):c.530C>T (p.Ala177Val) SNV
Germline
Chr1:21564098 Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877907 rs_1114167438

7 SubmittersRCV000490737RCV001851327RCV005645093RCV003470595RCV005010406

NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) SNV
Germline
Chr1:21577476 Pathogenic/Likely pathogenic Decreased circulating alkaline phosphatase activity
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666842 rs_766656419

11 SubmittersRCV000490707RCV001380649RCV001805108RCV002464210RCV004740265RCV006257296

NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) SNV
Germline
Chr1:21563152 Pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877136 rs_1320839573

6 SubmittersRCV000522077RCV000709831RCV003470650

NM_000478.6(ALPL):c.815G>A (p.Arg272His) SNV
Germline
Chr1:21570327 Pathogenic/Likely pathogenic Hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666626 rs_781272386

9 SubmittersRCV000587658RCV000674432RCV001597180RCV002279370RCV003459459RCV005010562

NM_000478.6(ALPL):c.188G>T (p.Gly63Val) SNV
Germline
Chr1:21561103 Pathogenic/Likely pathogenic Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877852 rs_1490668038

5 SubmittersRCV000595916RCV005010577RCV005645111

NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) SNV
Germline
Chr1:21564118 Pathogenic/Likely pathogenic Inborn genetic diseases
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Odontohypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666527 rs_763159520

15 SubmittersRCV000623730RCV000674297RCV001046115RCV001730702RCV002279446RCV003465357RCV005251002

NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe) SNV
Germline
Chr1:21575918 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881527 rs_772682471

4 SubmittersRCV000622740RCV003727784RCV005645118

NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) SNV
Germline
Chr1:21560651 Pathogenic Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Single Submitter
CA338877483 rs_1553411779

2 SubmittersRCV000666764RCV005091931

NM_000478.6(ALPL):c.497C>T (p.Thr166Ile) SNV
Germline
Chr1:21564065 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877780 rs_1176474582

3 SubmittersRCV000674250RCV005645151RCV006463857

NM_000478.6(ALPL):c.262G>A (p.Glu88Lys) SNV
Germline
Chr1:21561177 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19088503 rs_1045735640

4 SubmittersRCV000664832RCV002530636RCV005645132

NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) SNV
Germline
Chr1:21563234 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877301 rs_916300043

5 SubmittersRCV000667160RCV001855475RCV003465465RCV005407861

NM_000478.6(ALPL):c.862+1G>A SNV
Germline
Chr1:21570375 Pathogenic Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880022 rs_1553413512

3 SubmittersRCV000669273RCV004568522RCV005645140

NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) SNV
Germline
Chr1:21575774 Pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881060 rs_1553414560

4 SubmittersRCV000665524RCV003558484RCV004568494RCV005645134

NM_000478.6(ALPL):c.318G>C (p.Gln106His) SNV
Germline
Chr1:21563130 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA338877090 rs_1553412268

9 SubmittersRCV000669326RCV001300265RCV001730705RCV004568525RCV005010659RCV006629188

NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) SNV
Germline
Chr1:21563180 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877194 rs_1188506084

6 SubmittersRCV000671010RCV001861800RCV003465505RCV005010665RCV005645145

NM_000478.6(ALPL):c.407G>C (p.Arg136Pro) SNV
Germline
Chr1:21563219 Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877271 rs_121918011

3 SubmittersRCV000666790RCV003558489RCV005645135

NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro) SNV
Germline
Chr1:21577406 Pathogenic Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338881981 rs_1553415041

6 SubmittersRCV000667672RCV004017715RCV004586858RCV005019121RCV005091934

NM_000478.6(ALPL):c.1375G>T (p.Val459Leu) SNV
Germline
Chr1:21577448 Pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882067 rs_1054159992

4 SubmittersRCV000674894RCV001225796RCV005407873

NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) SNV
Germline
Chr1:21563146 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877125 rs_1384701659

7 SubmittersRCV000664567RCV001377620RCV003459565RCV005010646RCV005407855

NM_000478.6(ALPL):c.629A>G (p.His210Arg) SNV
Germline
Chr1:21564197 Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666542 rs_748031071

5 SubmittersRCV000672920RCV001597199RCV005645149

NM_000478.6(ALPL):c.670A>G (p.Lys224Glu) SNV
Germline
Chr1:21568125 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879076 rs_1226800998

4 SubmittersRCV000664774RCV002532036RCV005240419

NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) SNV
Germline
Chr1:21575777 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881075 rs_1553414563

8 SubmittersRCV000671791RCV001378583RCV003465511RCV004547844RCV005019143RCV005645146

NM_000478.6(ALPL):c.1132G>C (p.Asp378His) SNV
Germline
Chr1:21575867 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881339 rs_1553414611

6 SubmittersRCV000672795RCV001071997RCV003465518RCV003155277

NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter) SNV
Unknown
Chr1:21577397 Likely pathogenic Infantile hypophosphatasia No Assertion Criteria Provided
CA338881962 rs_1553415035

1 SubmittersRCV000667090

NM_000478.6(ALPL):c.1375G>A (p.Val459Met) SNV
Germline
Chr1:21577448 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19072056 rs_1054159992

5 SubmittersRCV000669598RCV001378584RCV004586861RCV005019133

NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) SNV
Germline
Chr1:21564097 Conflicting classifications of pathogenicity Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Microcephaly
Adult hypophosphatasia
not specified
Inborn genetic diseases
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666521 rs_199669988

12 SubmittersRCV000673035RCV000778223RCV000806323RCV001252803RCV002249400RCV002271560RCV002531329RCV005019152

NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr) SNV
Germline
Chr1:21573682 Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Single Submitter
CA338880197 rs_1553414079

2 SubmittersRCV000668470RCV005645139

NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) SNV
Germline
Chr1:21575745 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880974 rs_1219494274

10 SubmittersRCV000668539RCV001066978RCV001829847RCV003472101RCV004547840RCV005010656

NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) SNV
Germline
Chr1:21577544 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA338882323 rs_1413274209

10 SubmittersRCV000666509RCV000763304RCV001036085RCV001829834RCV003465452RCV006277988

NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) SNV
Germline
Chr1:21568113 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666573 rs_747488546

5 SubmittersRCV000670035RCV001236036RCV003225733RCV005645141

NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) SNV
Germline
Chr1:21568116 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666574 rs_769020799

7 SubmittersRCV000674883RCV001093407RCV003226368RCV004568571

NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) SNV
Germline
Chr1:21575906 Pathogenic Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Inborn genetic diseases
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA666747 rs_371243939

11 SubmittersRCV000665189RCV000763303RCV001050932RCV001275110RCV002279480RCV003465439RCV004026080RCV004740395

NM_000478.6(ALPL):c.1172G>A (p.Arg391His) SNV
Germline
Chr1:21575907 Pathogenic Infantile hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881485 rs_1442918125

8 SubmittersRCV000665417RCV001063207RCV001532998RCV004568492RCV005645133

NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) SNV
Germline
Chr1:21576617 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881853 rs_1553414868

4 SubmittersRCV000674648RCV003558529RCV004800532

NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) SNV
Germline
Chr1:21577533 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Childhood hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882285 rs_1229517379

5 SubmittersRCV000672960RCV001789781RCV001855588RCV003465521RCV005645150

NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) SNV
Germline
Chr1:21577578 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Osteogenesis imperfecta
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666868 rs_550358395

7 SubmittersRCV000710511RCV001825412RCV002279495RCV002507242

NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) SNV
Germline
Chr1:21573796 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880440 rs_768976020

4 SubmittersRCV000722315RCV003465651RCV005021121

NM_000478.6(ALPL):c.395C>T (p.Ala132Val) SNV
Germline
Chr1:21563207 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877252 rs_1558548925

8 SubmittersRCV000730364RCV001825460RCV002493325RCV003465663

NM_000478.6(ALPL):c.1142A>G (p.His381Arg) SNV
Germline
Chr1:21575877 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881377 rs_1558557428

5 SubmittersRCV000761222RCV002533861RCV004689876RCV005021150

NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) SNV
Germline
Chr1:21575813 Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666730 rs_749989499

6 SubmittersRCV000789000RCV002510977RCV002487628RCV006270234

NM_000478.6(ALPL):c.420C>T (p.Asn140=) SNV
Germline
Chr1:21563232 Conflicting classifications of pathogenicity Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666481 rs_148982201

2 SubmittersRCV000943917RCV005021283

NM_000478.6(ALPL):c.456C>T (p.Arg152=) SNV
Germline
Chr1:21563268 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666486 rs_527613008

2 SubmittersRCV000944353RCV005021284

NM_000478.6(ALPL):c.299C>T (p.Thr100Met) SNV
Germline
Chr1:21563111 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
ALPL-related disorder
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877051 rs_1201942473

10 SubmittersRCV001382223RCV003229004RCV004553548RCV004782623RCV005021310

NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) SNV
Germline
Chr1:21563143 Pathogenic/Likely pathogenic Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA666460 rs_773257111

7 SubmittersRCV001029819RCV003447575RCV001248534

NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) SNV
Germline
Chr1:21563243 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877318 rs_1291792579

3 SubmittersRCV001054292RCV002497417RCV005645201

NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) SNV
Germline
Chr1:21575769 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881051 rs_1644719715

7 SubmittersRCV001063193RCV003448366RCV004547968RCV005021404

NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) SNV
Germline
Chr1:21577383 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
ALPL-related disorder
Criteria Provided
Conflicting Classifications
CA338881929 rs_1437787933

5 SubmittersRCV001041986RCV001827252RCV004553575

NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) SNV
Germline
Chr1:21577490 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882153 rs_1644755212

8 SubmittersRCV001048323RCV003387956RCV003467753RCV005021369

NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) SNV
Germline
Chr1:21577499 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Inborn genetic diseases
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882172 rs_1057517173

8 SubmittersRCV001047689RCV001844265RCV002479289RCV003462538RCV004553586RCV004986759RCV005645198

NM_000478.6(ALPL):c.997+1G>T SNV
Germline
Chr1:21573800 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880451 rs_1292415045

8 SubmittersRCV001058683RCV001810492RCV001732028RCV003467795RCV006446011

NM_000478.6(ALPL):c.109C>T (p.Leu37=) SNV
Germline
Chr1:21560673 Conflicting classifications of pathogenicity Hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA416533980 rs_1205971311

3 SubmittersRCV001101711RCV001559152RCV001559150RCV001559151RCV002067773

NM_000478.6(ALPL):c.306C>T (p.Asn102=) SNV
Germline
Chr1:21563118 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
ALPL-related disorder
Criteria Provided
Conflicting Classifications
CA19059098 rs_1015578994

5 SubmittersRCV001096291RCV001457430RCV004547980

NM_000478.6(ALPL):c.333C>T (p.Ala111=) SNV
Germline
Chr1:21563145 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666461 rs_769379537

2 SubmittersRCV001096292RCV001494409

NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) SNV
Germline
Chr1:21563162 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Autosomal recessive ALPL-related disorders
Adult hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877156 rs_1374504617

7 SubmittersRCV001096293RCV002554893RCV002497500RCV005863353RCV006633968RCV003469293

NM_000478.6(ALPL):c.756C>T (p.Leu252=) SNV
Germline
Chr1:21568211 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA19063470 rs_867145238

2 SubmittersRCV001098041RCV002067748

NM_000478.6(ALPL):c.819G>A (p.Thr273=) SNV
Germline
Chr1:21570331 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666628 rs_372247799

2 SubmittersRCV001098042RCV001439601

NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) SNV
Germline
Chr1:21573763 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666689 rs_200133602

6 SubmittersRCV001099814RCV001243649RCV005021442

NM_000478.6(ALPL):c.1263C>T (p.Tyr421=) SNV
Germline
Chr1:21576595 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
ALPL-related disorder
Criteria Provided
Conflicting Classifications
CA19071242 rs_780762265

3 SubmittersRCV001101805RCV001395014RCV004547985

NM_000478.6(ALPL):c.1557C>A (p.Pro519=) SNV
Germline
Chr1:21577630 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666883 rs_376020180

3 SubmittersRCV001096385RCV001461342

NM_000478.6(ALPL):c.178G>C (p.Asp60His) SNV
Germline
Chr1:21560742 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877755 rs_1644472852

5 SubmittersRCV001351723RCV001822864

NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter) SNV
Germline
Chr1:21576614 Pathogenic Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666794 rs_759017288

5 SubmittersRCV001194282RCV001205339RCV003469310RCV005021487

NM_000478.6(ALPL):c.571G>T (p.Glu191Ter) SNV
Unknown
Chr1:21564139 Pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter
CA338878096 rs_121918007

1 SubmittersRCV001198044

NM_000478.6(ALPL):c.1400T>C (p.Met467Thr) SNV
Germline
Chr1:21577473 Likely pathogenic Adult hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666841 rs_763073466

4 SubmittersRCV001196910RCV002560228RCV005021490RCV005645222

NM_000478.6(ALPL):c.997+2T>A SNV
Germline
Chr1:21573801 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA338880452 rs_1057517391

8 SubmittersRCV001195741RCV001387323RCV001779133RCV002560208RCV005908938

NM_000478.6(ALPL):c.824T>C (p.Leu275Pro) SNV
Germline
Chr1:21570336 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879935 rs_1237252052

3 SubmittersRCV001213860RCV004570471RCV005645226

NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) SNV
Germline
Chr1:21575812 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881183 rs_567349821

5 SubmittersRCV001210319RCV002497720RCV003462706RCV005236686

NM_000478.6(ALPL):c.1162T>C (p.Tyr388His) SNV
Germline
Chr1:21575897 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881450 rs_1644722881

4 SubmittersRCV001207052RCV003462693RCV005021503RCV005645224

NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) SNV
Germline
Chr1:21563218 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA666477 rs_747762186

7 SubmittersRCV001238820RCV001257429RCV001253680RCV002290655RCV003235509RCV006629268

NM_000478.6(ALPL):c.575T>C (p.Met192Thr) SNV
Germline
Chr1:21564143 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA666534 rs_765011829

12 SubmittersRCV001243051RCV001257096RCV003469463RCV004740628RCV004800747RCV005014299RCV006443789

NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) SNV
Germline
Chr1:21577421 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666828 rs_138690664

5 SubmittersRCV001247327RCV001830009RCV002484387RCV003469476

NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) SNV
Germline
Chr1:21577556 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666865 rs_761079751

5 SubmittersRCV001245174RCV001835229

NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) SNV
Germline
Chr1:21560658 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
See cases
Adult hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA338877498 rs_1209147330

7 SubmittersRCV001251316RCV002568714RCV004584429RCV003462830RCV004727050

NM_000478.6(ALPL):c.119C>T (p.Ala40Val) SNV
Germline
Chr1:21560683 Pathogenic/Likely pathogenic Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
ALPL-related disorder
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666401 rs_770093969

9 SubmittersRCV001253054RCV001264416RCV001389813RCV004740636RCV005012697

NM_000478.6(ALPL):c.341C>T (p.Ala114Val) SNV
Germline
Chr1:21563153 Conflicting classifications of pathogenicity Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666463 rs_762915678

3 SubmittersRCV001253667RCV005645237RCV005057166

NM_000478.6(ALPL):c.500C>A (p.Thr167Lys) SNV
Germline
Chr1:21564068 Likely pathogenic Adult hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877787 rs_1408325840

2 SubmittersRCV001253015RCV005094212

NM_000478.6(ALPL):c.500C>T (p.Thr167Met) SNV
Germline
Chr1:21564068 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
ALPL-related disorder
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA338877789 rs_1408325840

11 SubmittersRCV001253034RCV001879863RCV004548107RCV004782688RCV005014309RCV006629270

NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) SNV
Germline
Chr1:21577404 Conflicting classifications of pathogenicity Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA338881977 rs_1644752699

3 SubmittersRCV001253668RCV001822869RCV006616457

NM_000478.6(ALPL):c.1190-2A>T SNV
Germline
Chr1:21576520 Pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter
CA338881614 rs_1644739549

1 SubmittersRCV001253274

NM_000478.6(ALPL):c.617A>G (p.Tyr206Cys) SNV
Germline
Chr1:21564185 Likely pathogenic Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Single Submitter
CA338878324 rs_780790767

2 SubmittersRCV001257430RCV006557272

NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) SNV
Germline
Chr1:21568193 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879311 rs_1223142821

7 SubmittersRCV001264483RCV003320818RCV005014317

NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro) SNV
Germline
Chr1:21576615 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881851 rs_1644741201

3 SubmittersRCV001280814RCV001871622RCV005645247

NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) SNV
Germline
Chr1:21563269 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA338877370 rs_1644512630

4 SubmittersRCV001835365RCV001813150

NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) SNV
Germline
Chr1:21568200 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666593 rs_770539523

3 SubmittersRCV001306765RCV001830233RCV005014380

NM_000478.6(ALPL):c.1022A>G (p.His341Arg) SNV
Germline
Chr1:21575757 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881020 rs_1382219911

5 SubmittersRCV001300266RCV001830171RCV005012740

NM_000478.6(ALPL):c.1415A>G (p.His472Arg) SNV
Germline
Chr1:21577488 Likely pathogenic Condition: not provided
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882149 rs_1644755133

4 SubmittersRCV001300488RCV003447585RCV005014362

NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu) SNV
Germline
Chr1:21576560 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881735 rs_1644740176

4 SubmittersRCV001319736RCV005645255

NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) SNV
Germline
Chr1:21577401 Pathogenic/Likely pathogenic Childhood hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts
CA338881972 rs_768053120

9 SubmittersRCV001332475RCV001385128RCV002509664RCV003469560RCV003389335RCV005014441RCV006629279

NM_000478.6(ALPL):c.655A>G (p.Met219Val) SNV
Germline
Chr1:21568110 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666570 rs_772432010

6 SubmittersRCV001351724RCV001825976RCV003469587

NM_000478.6(ALPL):c.661G>T (p.Gly221Cys) SNV
Germline
Chr1:21568116 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879053 rs_769020799

2 SubmittersRCV001338594RCV005645261

NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) SNV
Germline
Chr1:21563183 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666468 rs_11586344

5 SubmittersRCV001366072RCV004554858RCV005014495

NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) SNV
Germline
Chr1:21564076 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877804 rs_2148161378

5 SubmittersRCV001378581RCV001826142RCV003469635

NM_000478.6(ALPL):c.182-2A>G SNV
Germline
Chr1:21561095 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877815 rs_2148152217

2 SubmittersRCV001390683RCV003447597

NM_000478.6(ALPL):c.203C>T (p.Thr68Met) SNV
Germline
Chr1:21561118 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877904 rs_1644478533

7 SubmittersRCV001389815RCV002493933RCV003469764RCV003479323

NM_000478.6(ALPL):c.212G>A (p.Arg71His) SNV
Germline
Chr1:21561127 Pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19088467 rs_121918003

8 SubmittersRCV001382221RCV001836391RCV003388008RCV004556085RCV006446126

NM_000478.6(ALPL):c.223G>A (p.Gly75Ser) SNV
Germline
Chr1:21561138 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877969 rs_1304394441

3 SubmittersRCV001382222RCV003469672RCV005645272

NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) SNV
Germline
Chr1:21563115 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666458 rs_746273959

4 SubmittersRCV001389868RCV001449738RCV003469765RCV005645275

NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) SNV
Germline
Chr1:21564052 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666514 rs_760029254

5 SubmittersRCV001389954RCV002282538RCV003473994

NM_000478.6(ALPL):c.532T>C (p.Tyr178His) SNV
Germline
Chr1:21564100 Pathogenic/Likely pathogenic Condition: not provided
Micromelia
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877913 rs_1215600806

6 SubmittersRCV001389955RCV002286432RCV003463033RCV004526122RCV004796630

NM_000478.6(ALPL):c.558G>A (p.Trp186Ter) SNV
Germline
Chr1:21564126 Pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338878030 rs_2148161624

3 SubmittersRCV001387054RCV003771260

NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) SNV
Germline
Chr1:21568114 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879046 rs_1644592603

8 SubmittersRCV001389956RCV001831402RCV003473995RCV005014548RCV005232309

NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) SNV
Germline
Chr1:21573778 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Adult hypophosphatasia
ALPL-related disorder
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880403 rs_1644687066

7 SubmittersRCV001387322RCV002551555RCV003469729RCV004740679RCV005645274RCV005014538

NM_000478.6(ALPL):c.997G>T (p.Gly333Ter) SNV
Germline
Chr1:21573799 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880448 rs_2148184880

2 SubmittersRCV001388004RCV003463021

NM_000478.6(ALPL):c.1240C>A (p.Leu414Met) SNV
Germline
Chr1:21576572 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA338881760 rs_2148192444

6 SubmittersRCV001385127RCV003331144RCV004570954RCV004740678

NM_000478.6(ALPL):c.1275C>T (p.Gly425=) SNV
Germline
Chr1:21576607 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666791 rs_748883680

2 SubmittersRCV001398541RCV005014553

NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) SNV
Germline
Chr1:21560691 Conflicting classifications of pathogenicity Adult hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666402 rs_148357203

3 SubmittersRCV001542259RCV002032527

NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn) SNV
Germline
Chr1:21575901 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666745 rs_746390776

6 SubmittersRCV001596859RCV002271662RCV003470871

NM_000478.6(ALPL):c.657G>T (p.Met219Ile) SNV
Germline
Chr1:21568112 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666572 rs_776117933

7 SubmittersRCV001596919RCV003333168RCV003470872RCV005014602

NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) SNV
Germline
Chr1:21577500 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882175 rs_2148195004

6 SubmittersRCV001731123RCV001861033RCV002496057RCV003474016

NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) SNV
Germline
Chr1:21576522 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881624 rs_1400042777

4 SubmittersRCV001756581RCV001806253RCV005645291

NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) SNV
Germline
Chr1:21568201 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
not specified
Criteria Provided
Conflicting Classifications
CA666594 rs_121918018

5 SubmittersRCV001769013RCV002488589RCV003987903

NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) SNV
Germline
Chr1:21573676 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666669 rs_765458125

6 SubmittersRCV001785916RCV003464139RCV003317526RCV005014660

NM_000478.6(ALPL):c.542C>G (p.Ser181Trp) SNV
Germline
Chr1:21564110 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877960 rs_199590449

3 SubmittersRCV001787438RCV005645303

NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys) SNV
Germline
Chr1:21577552 Pathogenic/Likely pathogenic Childhood hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882354 rs_759758484

2 SubmittersRCV001789735RCV005645304

NM_000478.6(ALPL):c.547G>A (p.Asp183Asn) SNV
Germline
Chr1:21564115 Conflicting classifications of pathogenicity Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877976 rs_1644529037

3 SubmittersRCV001810539RCV003772268RCV005645308

NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) SNV
Germline
Chr1:21560670 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
ALPL-related disorder
Criteria Provided
Conflicting Classifications
CA338877523 rs_747167000

4 SubmittersRCV001813915RCV003728016RCV004552033

NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) SNV
Germline
Chr1:21554122 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338876432 rs_2148135377

2 SubmittersRCV001815056

NM_000478.6(ALPL):c.140A>T (p.Asn47Ile) SNV
Germline
Chr1:21560704 Conflicting classifications of pathogenicity Hypophosphatasia
not specified
Criteria Provided
Conflicting Classifications
CA338877610 rs_2148151094

3 SubmittersRCV001815059RCV005409022

NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) SNV
Germline
Chr1:21561109 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338877872 rs_1644478359

2 SubmittersRCV001815061

NM_000478.6(ALPL):c.361G>A (p.Val121Met) SNV
Germline
Chr1:21563173 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877177 rs_1476072388

4 SubmittersRCV001815062RCV005095236

NM_000478.6(ALPL):c.601T>C (p.Cys201Arg) SNV
Germline
Chr1:21564169 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter
CA338878253 rs_2148161800

1 SubmittersRCV001815063

NM_000478.6(ALPL):c.214A>G (p.Ile72Val) SNV
Germline
Chr1:21561129 Pathogenic/Likely pathogenic Hypophosphatasia
Adult hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877933 rs_2148152364

5 SubmittersRCV001815064RCV004762189RCV004774469

NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) SNV
Germline
Chr1:21560710 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338877627 rs_868522953

2 SubmittersRCV001818095

NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) SNV
Germline
Chr1:21561162 Pathogenic/Likely pathogenic Hypophosphatasia
ALPL-related disorder
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338878072 rs_2148152544

4 SubmittersRCV001823791RCV004552045RCV002489891RCV005095289

NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp) SNV
Germline
Chr1:21576575 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338881767 rs_2148192455

2 SubmittersRCV001848631

NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp) SNV
Germline
Chr1:21577491 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338882156 rs_2148194946

2 SubmittersRCV001848632

NM_000478.6(ALPL):c.352C>A (p.Leu118Met) SNV
Germline
Chr1:21563164 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877160 rs_1284058976

4 SubmittersRCV002008130RCV003475266RCV005645347

NM_000478.6(ALPL):c.1A>G (p.Met1Val) SNV
Germline
Chr1:21554082 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338876282 rs_2148135255

2 SubmittersRCV001897390RCV005016734

NM_000478.6(ALPL):c.346G>T (p.Ala116Ser) SNV
Germline
Chr1:21563158 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877148 rs_121918013

3 SubmittersRCV001966113RCV005645342

NM_000478.6(ALPL):c.551G>A (p.Arg184Gln) SNV
Germline
Chr1:21564119 Pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877996 rs_1558549798

3 SubmittersRCV001974856RCV002507646RCV005645334

NM_000478.6(ALPL):c.422C>T (p.Thr141Ile) SNV
Germline
Chr1:21563234 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19059333 rs_916300043

3 SubmittersRCV001990288RCV005645341

NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) SNV
Germline
Chr1:21575918 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666751 rs_772682471

5 SubmittersRCV001999838RCV002492119RCV003226510RCV003471131

NM_000478.6(ALPL):c.1163A>G (p.Tyr388Cys) SNV
Germline
Chr1:21575898 Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881455 rs_1644722925

3 SubmittersRCV001991149RCV005645348RCV005017000

NM_000478.6(ALPL):c.459G>A (p.Trp153Ter) SNV
Germline
Chr1:21563271 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666487 rs_761836226

5 SubmittersRCV001884220RCV003464207RCV004765360RCV005016747

NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu) SNV
Germline
Chr1:21577440 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882047 rs_1644753808

4 SubmittersRCV002014284RCV003448446

NM_000478.6(ALPL):c.1427A>G (p.Glu476Gly) SNV
Germline
Chr1:21577500 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882176 rs_2148195004

2 SubmittersRCV002014391RCV005645359

NM_000478.6(ALPL):c.649-1G>A SNV
Germline
Chr1:21568103 Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338878999 rs_2148171286

3 SubmittersRCV001970877RCV002497930RCV004571868

NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) SNV
Germline
Chr1:21570327 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666625 rs_781272386

5 SubmittersRCV001972664RCV003471180RCV005008303RCV005645338

NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) SNV
Germline
Chr1:21573782 Pathogenic/Likely pathogenic Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666695 rs_779832611

5 SubmittersRCV001972665RCV002276955RCV003475237RCV005645339

NM_000478.6(ALPL):c.1231A>G (p.Thr411Ala) SNV
Germline
Chr1:21576563 Pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881743 rs_2148192403

4 SubmittersRCV001953835RCV004587273RCV005016955

NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr) SNV
Germline
Chr1:21577475 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882123 rs_1196976671

5 SubmittersRCV001972666RCV004571737RCV003772952RCV005016956

NM_000478.6(ALPL):c.1444C>A (p.His482Asn) SNV
Germline
Chr1:21577517 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA666854 rs_780857373

6 SubmittersRCV001949280RCV003448440RCV003471181RCV004552136

NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) SNV
Germline
Chr1:21563266 Conflicting classifications of pathogenicity Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA19059381 rs_200621180

7 SubmittersRCV001973364RCV002276963RCV002479619RCV003464338RCV005432880

NM_000478.6(ALPL):c.967A>G (p.Asn323Asp) SNV
Germline
Chr1:21573769 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338880380 rs_2148184736

2 SubmittersRCV001966584RCV003448441

NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser) SNV
Germline
Chr1:21576527 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881636 rs_2148192290

3 SubmittersRCV001999274RCV005645355

NM_000478.6(ALPL):c.1268T>C (p.Val423Ala) SNV
Germline
Chr1:21576600 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881824 rs_2148192552

3 SubmittersRCV001999288RCV003471247RCV005645356

NM_000478.6(ALPL):c.997+3A>C SNV
Germline
Chr1:21573802 Conflicting classifications of pathogenicity Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA2573130539 rs_1553414147

3 SubmittersRCV003471220RCV001969277RCV005645344

NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) SNV
Germline
Chr1:21575865 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666737 rs_756418235

6 SubmittersRCV001976034RCV002497923RCV003471221RCV004553602RCV005645345

NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp) SNV
Germline
Chr1:21576579 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881776 rs_2148192467

3 SubmittersRCV001983794RCV003447615

NM_000478.6(ALPL):c.572A>G (p.Glu191Gly) SNV
Germline
Chr1:21564140 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338878101 rs_1644529717

3 SubmittersRCV001942167RCV004554881

NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) SNV
Germline
Chr1:21575750 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880993 rs_2148189619

3 SubmittersRCV001942171RCV003447611

NM_000478.6(ALPL):c.1120G>A (p.Val374Met) SNV
Germline
Chr1:21575855 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666735 rs_552831415

8 SubmittersRCV001939650RCV003401965RCV002492124RCV003471161RCV005253972

NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser) SNV
Germline
Chr1:21576608 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666792 rs_770548228

5 SubmittersRCV001939652RCV003471162RCV004699585RCV005016944

NM_000478.6(ALPL):c.1336G>A (p.Ala446Thr) SNV
Germline
Chr1:21577409 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881987 rs_2148194520

2 SubmittersRCV002011511RCV005645357

NM_000478.6(ALPL):c.1402G>T (p.Ala468Ser) SNV
Germline
Chr1:21577475 Likely pathogenic Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882124 rs_1196976671

3 SubmittersRCV002011524RCV005017072RCV005645358

NM_000478.6(ALPL):c.1023T>A (p.His341Gln) SNV
Germline
Chr1:21575758 Pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881022 rs_1280398041

3 SubmittersRCV001972846RCV004765362

NM_000478.6(ALPL):c.884T>C (p.Met295Thr) SNV
Germline
Chr1:21573686 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338880206 rs_1220125702

6 SubmittersRCV001925196RCV002555640RCV003475155RCV004699541

NM_000478.6(ALPL):c.1271T>C (p.Val424Ala) SNV
Germline
Chr1:21576603 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881830 rs_1436960562

3 SubmittersRCV001897020RCV005645320

NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys) SNV
Germline
Chr1:21577427 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19072025 rs_966212736

5 SubmittersRCV001903527RCV002300620RCV004571581RCV005016799

NM_000478.6(ALPL):c.394G>A (p.Ala132Thr) SNV
Germline
Chr1:21563206 Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666473 rs_757771793

5 SubmittersRCV002001562RCV002236196RCV003471236RCV005008367

NM_000478.6(ALPL):c.896T>C (p.Leu299Pro) SNV
Germline
Chr1:21573698 Pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880235 rs_2148184404

4 SubmittersRCV001974645RCV002271703RCV004571659

NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) SNV
Germline
Chr1:21573733 Pathogenic/Likely pathogenic Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666685 rs_763457259

6 SubmittersRCV001974667RCV002243489RCV003464266RCV005016892RCV005238090

NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) SNV
Germline
Chr1:21577437 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882042 rs_1289406215

4 SubmittersRCV001963563RCV003485756RCV005645340

NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys) SNV
Germline
Chr1:21563114 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877056 rs_2148158064

3 SubmittersRCV002227833RCV003679078

NM_000478.6(ALPL):c.889T>A (p.Tyr297Asn) SNV
Germline
Chr1:21573691 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338880218 rs_2148184355

2 SubmittersRCV002227917

NM_000478.6(ALPL):c.705G>T (p.Glu235Asp) SNV
Germline
Chr1:21568160 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter
CA338879191 rs_2148171627

1 SubmittersRCV002236393

NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) SNV
Germline
Chr1:21568170 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA338879222 rs_1416572796

4 SubmittersRCV002243537RCV003718453

NM_000478.6(ALPL):c.1376T>C (p.Val459Ala) SNV
Germline
Chr1:21577449 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter
CA338882069 rs_2148194744

1 SubmittersRCV002247169

NM_000478.6(ALPL):c.1190G>T (p.Gly397Val) SNV
Germline
Chr1:21576522 Likely pathogenic Hypophosphatasia No Assertion Criteria Provided
CA338881621 rs_1400042777

1 SubmittersRCV002247170

NM_000478.6(ALPL):c.677T>C (p.Met226Thr) SNV
Germline
Chr1:21568132 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666580 rs_752641050

4 SubmittersRCV002277788RCV003560918RCV005645371

NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu) SNV
Germline
Chr1:21575838 Conflicting classifications of pathogenicity Osteogenesis imperfecta
Condition: not provided
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666732 rs_368809478

4 SubmittersRCV002277811RCV003096238RCV005356077RCV004784046

NM_000478.6(ALPL):c.370A>G (p.Asn124Asp) SNV
Germline
Chr1:21563182 Conflicting classifications of pathogenicity Condition: not provided
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877198 rs_2545299014

2 SubmittersRCV002294767RCV004765370

NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter) SNV
Unknown
Chr1:21575786 Likely pathogenic Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Single Submitter
CA338881108 rs_2545342154

1 SubmittersRCV002308067

NM_000478.6(ALPL):c.643A>G (p.Ile215Val) SNV
Germline
Chr1:21564211 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666543 rs_769903299

4 SubmittersRCV002475381RCV005645397

NM_000478.6(ALPL):c.110T>C (p.Leu37Pro) SNV
Germline
Chr1:21560674 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
ALPL-related disorder
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19088076 rs_143358506

4 SubmittersRCV002630052RCV003475519RCV004741421RCV005645430

NM_000478.6(ALPL):c.512A>G (p.His171Arg) SNV
Germline
Chr1:21564080 Pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666518 rs_778232217

5 SubmittersRCV002630053RCV003324080RCV003465995

NM_000478.6(ALPL):c.602G>A (p.Cys201Tyr) SNV
Germline
Chr1:21564170 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA338878259 rs_2545304244

3 SubmittersRCV002664152RCV005645431RCV006307325

NM_000478.6(ALPL):c.662G>T (p.Gly221Val) SNV
Germline
Chr1:21568117 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666576 rs_566317085

2 SubmittersRCV002648132RCV005645432

NM_000478.6(ALPL):c.871G>T (p.Glu291Ter) SNV
Germline
Chr1:21573673 Pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880178 rs_786204473

2 SubmittersRCV002648133RCV005645433

NM_000478.6(ALPL):c.874C>T (p.Pro292Ser) SNV
Germline
Chr1:21573676 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666668 rs_765458125

3 SubmittersRCV002648134RCV003388160

NM_000478.6(ALPL):c.883A>G (p.Met295Val) SNV
Germline
Chr1:21573685 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880203 rs_1644684403

2 SubmittersRCV002648135RCV005645434

NM_000478.6(ALPL):c.1184T>C (p.Ile395Thr) SNV
Germline
Chr1:21575919 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19070423 rs_751977466

2 SubmittersRCV002630054RCV005645436

NM_000478.6(ALPL):c.1292T>C (p.Val431Ala) SNV
Germline
Chr1:21576624 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881873 rs_2545347691

2 SubmittersRCV002664154RCV005645437

NM_000478.6(ALPL):c.1444C>T (p.His482Tyr) SNV
Germline
Chr1:21577517 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA19072145 rs_780857373

3 SubmittersRCV003106570RCV003447645

NM_000478.6(ALPL):c.278C>T (p.Pro93Leu) SNV
Germline
Chr1:21561193 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338878206 rs_1187036876

2 SubmittersRCV003108467RCV005645446

NM_000478.6(ALPL):c.145A>G (p.Asn49Asp) SNV
Germline
Chr1:21560709 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877624 rs_1644471991

2 SubmittersRCV002589298RCV005008637

NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln) SNV
Germline
Chr1:21576615 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881850 rs_1644741201

6 SubmittersRCV002613170RCV003447629RCV005860317

NM_000478.6(ALPL):c.565G>A (p.Asp189Asn) SNV
Germline
Chr1:21564133 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338878062 rs_2545303964

3 SubmittersRCV002578616RCV003230752RCV005645401

NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr) SNV
Germline
Chr1:21563228 Conflicting classifications of pathogenicity Condition: not provided
ALPL-related disorder
not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877284 rs_1644511209

5 SubmittersRCV002593743RCV004548329RCV005419473RCV005645402

NM_000478.6(ALPL):c.613G>A (p.Ala205Thr) SNV
Germline
Chr1:21564181 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
not specified
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA666539 rs_751455369

7 SubmittersRCV002609022RCV003447630RCV003989774RCV005239465RCV005019280

NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser) SNV
Germline
Chr1:21575735 Likely pathogenic Condition: not provided
ALPL-related disorder
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666718 rs_769955594

5 SubmittersRCV002622478RCV004725335RCV003447632

NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr) SNV
Germline
Chr1:21575834 Conflicting classifications of pathogenicity Condition: not provided
not specified
Adult hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881230 rs_2545342410

3 SubmittersRCV002740374RCV004700815RCV006249834

NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter) SNV
Germline
Chr1:21570367 Pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880003 rs_2545324707

3 SubmittersRCV002791125RCV005645407RCV004571261

NM_000478.6(ALPL):c.823C>T (p.Leu275Phe) SNV
Germline
Chr1:21570335 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338879932 rs_749684443

2 SubmittersRCV002791812RCV005019409

NM_000478.6(ALPL):c.295A>G (p.Lys99Glu) SNV
Germline
Chr1:21561210 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338878271 rs_2148152698

3 SubmittersRCV002838166RCV003447636RCV006257367

NM_000478.6(ALPL):c.182G>A (p.Gly61Glu) SNV
Germline
Chr1:21561097 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877824 rs_2545291966

2 SubmittersRCV002843244RCV005645411

NM_000478.6(ALPL):c.1018C>T (p.His340Tyr) SNV
Germline
Chr1:21575753 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881005 rs_2545342009

3 SubmittersRCV002881363RCV004554889

NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter) SNV
Germline
Chr1:21568136 Pathogenic/Likely pathogenic Condition: not provided
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879124 rs_2545317132

2 SubmittersRCV002890172RCV003464631

NM_000478.6(ALPL):c.436G>C (p.Glu146Gln) SNV
Germline
Chr1:21563248 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877329 rs_138587317

3 SubmittersRCV003034022RCV004587409RCV005608834

NM_000478.6(ALPL):c.386G>A (p.Gly129Glu) SNV
Germline
Chr1:21563198 Likely pathogenic Childhood hypophosphatasia Criteria Provided
Single Submitter
CA338877232 rs_2545299161

1 SubmittersRCV003142389

NM_000478.6(ALPL):c.152C>T (p.Ala51Val) SNV
Germline
Chr1:21560716 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877642 rs_1470389268

4 SubmittersRCV003317752RCV003561293RCV004572920

NM_000478.6(ALPL):c.29T>C (p.Ile10Thr) SNV
Germline
Chr1:21554110 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338876368 rs_1408044973

2 SubmittersRCV003317753

NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala) SNV
Germline
Chr1:21576591 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338881802 rs_2545347491

5 SubmittersRCV003323272RCV003561297

NM_000478.6(ALPL):c.1446C>A (p.His482Gln) SNV
Germline
Chr1:21577519 Conflicting classifications of pathogenicity not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338882228 rs_747980975

2 SubmittersRCV003332033RCV005645469

NM_000478.6(ALPL):c.952C>T (p.Gln318Ter) SNV
Germline
Chr1:21573754 Pathogenic/Likely pathogenic Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880350 rs_752356218

2 SubmittersRCV003388642RCV005410957

NM_000478.6(ALPL):c.184A>T (p.Met62Leu) SNV
Germline
Chr1:21561099 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877833 rs_1644478213

2 SubmittersRCV003412871RCV005645478

NM_000478.6(ALPL):c.1161A>G (p.Gly387=) SNV
Germline
Chr1:21575896 Likely pathogenic Infantile hypophosphatasia Criteria Provided
Single Submitter
CA416533452 rs_2545342795

1 SubmittersRCV004555665

NM_000478.6(ALPL):c.244G>A (p.Gly82Arg) SNV
Germline
Chr1:21561159 Pathogenic/Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338878055 rs_2545292224

2 SubmittersRCV003447660

NM_000478.6(ALPL):c.244G>C (p.Gly82Arg) SNV
Germline
Chr1:21561159 Pathogenic/Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338878058 rs_2545292224

2 SubmittersRCV003447838

NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys) SNV
Germline
Chr1:21577509 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA338882199 rs_1235350055

3 SubmittersRCV003447839RCV006473183

NM_000478.6(ALPL):c.527C>T (p.Ala176Val) SNV
Germline
Chr1:21564095 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338877895 rs_2545303681

2 SubmittersRCV003447840

NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly) SNV
Germline
Chr1:21577401 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA666825 rs_768053120

2 SubmittersRCV003447851

NM_000478.6(ALPL):c.1247G>T (p.Gly416Val) SNV
Germline
Chr1:21576579 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338881777 rs_2148192467

2 SubmittersRCV003447911

NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr) SNV
Germline
Chr1:21575867 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338881341 rs_1553414611

3 SubmittersRCV003447912RCV004721194

NM_000478.6(ALPL):c.1157G>A (p.Gly386Asp) SNV
Germline
Chr1:21575892 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338881435 rs_2545342765

2 SubmittersRCV003447913

NM_000478.6(ALPL):c.659G>T (p.Gly220Val) SNV
Germline
Chr1:21568114 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338879049 rs_1644592603

4 SubmittersRCV003448502RCV003553942

NM_000478.6(ALPL):c.176G>A (p.Gly59Glu) SNV
Germline
Chr1:21560740 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA19088185 rs_925157796

2 SubmittersRCV003448555RCV003708802

NM_000478.6(ALPL):c.511C>G (p.His171Asp) SNV
Germline
Chr1:21564079 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338877812 rs_2545303533

2 SubmittersRCV003448556

NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp) SNV
Germline
Chr1:21576591 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338881801 rs_2545347491

2 SubmittersRCV003448652

NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser) SNV
Germline
Chr1:21576590 Pathogenic/Likely pathogenic Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881798 rs_1644740557

3 SubmittersRCV003448653RCV003466079

NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys) SNV
Germline
Chr1:21568162 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA19063433 rs_533959092

4 SubmittersRCV003448655RCV003553944RCV003459864

NM_000478.6(ALPL):c.385G>A (p.Gly129Arg) SNV
Germline
Chr1:21563197 Conflicting classifications of pathogenicity Adult hypophosphatasia
not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877229 rs_1644509963

3 SubmittersRCV003470050RCV004801350RCV005645482

NM_000478.6(ALPL):c.358G>A (p.Gly120Arg) SNV
Germline
Chr1:21563170 Conflicting classifications of pathogenicity Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA19059201 rs_954135116

2 SubmittersRCV003470075RCV005645483

NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter) SNV
Germline
Chr1:21564102 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA666524 rs_201250289

2 SubmittersRCV003461845RCV003689092

NM_000478.6(ALPL):c.413G>C (p.Arg138Pro) SNV
Germline
Chr1:21563225 Pathogenic/Likely pathogenic Adult hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877280 rs_140167865

3 SubmittersRCV003470102RCV005645484RCV006473232

NM_000478.6(ALPL):c.211C>A (p.Arg71Ser) SNV
Germline
Chr1:21561126 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666434 rs_121918001

3 SubmittersRCV003476483RCV003553956RCV005645485

NM_000478.6(ALPL):c.382G>A (p.Val128Met) SNV
Germline
Chr1:21563194 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877223 rs_1159854007

3 SubmittersRCV003461857RCV003553957RCV005645486

NM_000478.6(ALPL):c.226C>T (p.Gln76Ter) SNV
Germline
Chr1:21561141 Pathogenic/Likely pathogenic Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338877981 rs_1333485956

3 SubmittersRCV003461858RCV005021973RCV006473233

NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp) SNV
Germline
Chr1:21576609 Pathogenic/Likely pathogenic Adult hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881839 rs_2545347584

5 SubmittersRCV003470120RCV003553958RCV004801351RCV005645487

NM_000478.6(ALPL):c.648+1G>T SNV
Germline
Chr1:21564217 Pathogenic Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338878456 rs_749544042

2 SubmittersRCV003470123RCV005645488

NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter) SNV
Unknown
Chr1:21563163 Likely pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter
CA338877159 rs_889640594

1 SubmittersRCV003470148

NM_000478.6(ALPL):c.1196C>T (p.Ala399Val) SNV
Germline
Chr1:21576528 Likely pathogenic Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881641 rs_1394896229

2 SubmittersRCV003470190RCV005645489

NM_000478.6(ALPL):c.298-1G>A SNV
Germline
Chr1:21563109 Pathogenic Adult hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877043 rs_2545298389

2 SubmittersRCV003470203RCV005645490

NM_000275.3(OCA2):c.406C>T (p.Arg136Ter) SNV
Germline
Chr15:28027980 Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Condition: not provided
Hypophosphatasia
Oculocutaneous albinism
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Tyrosinase-positive oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
Criteria Provided
Multiple Submitters
No Conflicts
CA7439501 rs_201791790

6 SubmittersRCV003463221RCV003553961RCV004540683RCV004526261RCV005012963RCV005871178

NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser) SNV
Germline
Chr1:21577562 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338882390 rs_2545351622

2 SubmittersRCV003448658

NM_000478.6(ALPL):c.768G>A (p.Trp256Ter) SNV
Germline
Chr1:21568223 Pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA666598 rs_760649979

2 SubmittersRCV003448894

NM_000478.6(ALPL):c.802T>C (p.Phe268Leu) SNV
Germline
Chr1:21570314 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA666624 rs_751625937

2 SubmittersRCV003448897

NM_000478.6(ALPL):c.286G>C (p.Ala96Pro) SNV
Germline
Chr1:21561201 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338878231 rs_2545292484

2 SubmittersRCV003448898

NM_000478.6(ALPL):c.1487A>G (p.His496Arg) SNV
Germline
Chr1:21577560 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338882384 rs_1644757200

2 SubmittersRCV003448899

NM_000478.6(ALPL):c.297+5G>A SNV
Germline
Chr1:21561217 Conflicting classifications of pathogenicity Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA666443 rs_776187726

3 SubmittersRCV003448902RCV003661056

NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter) SNV
Germline
Chr1:21564129 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter
CA338878048 rs_771542770

1 SubmittersRCV003480004

NM_000478.6(ALPL):c.211C>G (p.Arg71Gly) SNV
Germline
Chr1:21561126 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877926 rs_121918001

2 SubmittersRCV003562213RCV005645502

NM_000478.6(ALPL):c.443C>T (p.Thr148Ile) SNV
Germline
Chr1:21563255 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877347 rs_1376937780

3 SubmittersRCV003562214RCV005645503

NM_000478.6(ALPL):c.919C>T (p.Pro307Ser) SNV
Germline
Chr1:21573721 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880286 rs_1644685487

2 SubmittersRCV003562216RCV005645504

NM_000478.6(ALPL):c.1016G>A (p.Gly339Glu) SNV
Germline
Chr1:21575751 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880998 rs_2545341993

2 SubmittersRCV003562218RCV005645505

NM_000478.6(ALPL):c.1065G>A (p.Met355Ile) SNV
Germline
Chr1:21575800 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881159 rs_2545342209

2 SubmittersRCV003562219RCV005645506

NM_000478.6(ALPL):c.1112C>T (p.Thr371Ile) SNV
Germline
Chr1:21575847 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA666733 rs_751292739

2 SubmittersRCV003562220RCV005645507

NM_000478.6(ALPL):c.1217A>G (p.Asp406Gly) SNV
Germline
Chr1:21576549 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338881708 rs_2545347197

2 SubmittersRCV003562223RCV005645508

NM_000478.6(ALPL):c.1468A>T (p.Ile490Phe) SNV
Germline
Chr1:21577541 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882313 rs_1644756699

3 SubmittersRCV003562227RCV005419650

NM_000478.6(ALPL):c.659G>A (p.Gly220Glu) SNV
Germline
Chr1:21568114 Likely pathogenic Condition: not provided
Alpha thalassemia-X-linked intellectual disability syndrome
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338879047 rs_1644592603

3 SubmittersRCV003567461RCV004540724RCV005014802RCV004526999

NM_000478.6(ALPL):c.1144G>C (p.Val382Leu) SNV
Germline
Chr1:21575879 Conflicting classifications of pathogenicity Hypophosphatasia
not specified
Criteria Provided
Conflicting Classifications
CA338881384 rs_771540767

2 SubmittersRCV003533801RCV004690448

NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp) SNV
Germline
Chr1:21577429 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338882025 rs_2545350546

4 SubmittersRCV003709343RCV005052064

NM_000478.6(ALPL):c.969C>G (p.Asn323Lys) SNV
Germline
Chr1:21573771 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338880385 rs_2148184754

2 SubmittersRCV003691668RCV005645514

NM_000478.6(ALPL):c.1137T>G (p.His379Gln) SNV
Germline
Chr1:21575872 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338881362 rs_1002385454

3 SubmittersRCV003723537RCV005645515RCV004784171

NM_000478.6(ALPL):c.981C>G (p.Phe327Leu) SNV
Germline
Chr1:21573783 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338880412 rs_2545335005

2 SubmittersRCV003716343RCV005254859

NM_000478.6(ALPL):c.380C>A (p.Thr127Asn) SNV
Germline
Chr1:21563192 Conflicting classifications of pathogenicity Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
CA19059239 rs_146517700

2 SubmittersRCV003713087RCV005013121

NM_000478.6(ALPL):c.344C>T (p.Thr115Ile) SNV
Germline
Chr1:21563156 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts
CA338877146 rs_2545298833

3 SubmittersRCV003737088RCV005645768

NM_000478.6(ALPL):c.379A>G (p.Thr127Ala) SNV
Germline
Chr1:21563191 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications
CA338877219 rs_1570273880

3 SubmittersRCV003859717RCV004765385

NM_000478.6(ALPL):c.1327G>A (p.Ala443Thr) SNV
Germline
Chr1:21577400 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338881969 rs_2545350189

2 SubmittersRCV003881690

NM_000478.6(ALPL):c.871G>C (p.Glu291Gln) SNV
Germline
Chr1:21573673 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338880177 rs_786204473

2 SubmittersRCV003881692

NM_000478.6(ALPL):c.173T>C (p.Leu58Pro) SNV
Germline
Chr1:21560737 Likely pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter
CA338877730 rs_2545290283

1 SubmittersRCV003991958

NM_000478.6(ALPL):c.1465T>A (p.Cys489Ser) SNV
Germline
Chr1:21577538 Pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter
CA338882298 rs_2545351407

1 SubmittersRCV004545937

NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys) SNV
Germline
Chr1:21564128 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
CA338878044 rs_2545303934

2 SubmittersRCV004547439

NM_000478.6(ALPL):c.319G>A (p.Val107Ile) SNV
Germline
Chr1:21563131 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts
CA338877092 rs_2545298581

2 SubmittersRCV004555139

NM_000478.6(ALPL):c.583G>T (p.Glu195Ter) SNV
Unknown
Chr1:21564151 Likely pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter
rs_2545304138

1 SubmittersRCV004576841

NM_000478.6(ALPL):c.1327G>T (p.Ala443Ser) SNV
Germline
Chr1:21577400 Conflicting classifications of pathogenicity Hypophosphatasia
not specified
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications
rs_2545350189

4 SubmittersRCV004586481RCV004690511RCV005015203

NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro) SNV
Germline
Chr1:21576545 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications
rs_2545347156

2 SubmittersRCV004586482

NM_000478.6(ALPL):c.1156G>C (p.Gly386Arg) SNV
Germline
Chr1:21575891 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004596008

NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg) SNV
Germline
Chr1:21576584 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications

2 SubmittersRCV004696623

NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg) SNV
Germline
Chr1:21576539 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications

2 SubmittersRCV004696624

NM_000478.6(ALPL):c.164T>A (p.Ile55Asn) SNV
Germline
Chr1:21560728 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV004765462

NM_000478.6(ALPL):c.181+1G>T SNV
Germline
Chr1:21560746 Likely pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV004776354

NM_000478.6(ALPL):c.697G>A (p.Asp233Asn) SNV
Germline
Chr1:21568152 Conflicting classifications of pathogenicity Childhood hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004789984RCV005017281

NM_000478.6(ALPL):c.804C>G (p.Phe268Leu) SNV
Germline
Chr1:21570316 Likely pathogenic Hypophosphatasia No Assertion Criteria Provided

1 SubmittersRCV004794714

NM_000478.6(ALPL):c.1466G>T (p.Cys489Phe) SNV
Germline
Chr1:21577539 Pathogenic Hypophosphatasia No Assertion Criteria Provided

1 SubmittersRCV004794715

NM_000478.6(ALPL):c.1150A>C (p.Thr384Pro) SNV
Germline
Chr1:21575885 Likely pathogenic Infantile hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV004796527

NM_000478.6(ALPL):c.437A>G (p.Glu146Gly) SNV
Germline
Chr1:21563249 Conflicting classifications of pathogenicity Condition: not provided
Childhood hypophosphatasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004812199RCV005647412

NM_000478.6(ALPL):c.380C>T (p.Thr127Ile) SNV
Germline
Chr1:21563192 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications

2 SubmittersRCV005215812

NM_000478.6(ALPL):c.1447G>A (p.Val483Met) SNV
Germline
Chr1:21577520 Conflicting classifications of pathogenicity Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications

4 SubmittersRCV005007737RCV005112630RCV005645826

NM_000478.6(ALPL):c.587C>G (p.Ala196Gly) SNV
Germline
Chr1:21564155 Conflicting classifications of pathogenicity Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005022230RCV006565784

NM_000478.6(ALPL):c.662G>C (p.Gly221Ala) SNV
Germline
Chr1:21568117 Likely pathogenic Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Single Submitter

1 SubmittersRCV005022294

NM_000478.6(ALPL):c.677T>G (p.Met226Arg) SNV
Germline
Chr1:21568132 Likely pathogenic Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Single Submitter

1 SubmittersRCV005022306

NM_000478.6(ALPL):c.678G>A (p.Met226Ile) SNV
Germline
Chr1:21568133 Likely pathogenic Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005022308RCV005645824

NM_000478.6(ALPL):c.708T>A (p.Tyr236Ter) SNV
Germline
Chr1:21568163 Likely pathogenic Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Single Submitter

1 SubmittersRCV005022312

NM_000478.6(ALPL):c.1064T>C (p.Met355Thr) SNV
Germline
Chr1:21575799 Conflicting classifications of pathogenicity Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005007711RCV005645825

NM_000478.6(ALPL):c.62-1G>C SNV
Germline
Chr1:21560625 Pathogenic/Likely pathogenic Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005007491RCV005645823RCV006270654

NM_000478.6(ALPL):c.314C>A (p.Ala105Asp) SNV
Germline
Chr1:21563126 Conflicting classifications of pathogenicity Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005007546RCV006269983RCV006489102

NM_000478.6(ALPL):c.567C>A (p.Asp189Glu) SNV
Germline
Chr1:21564135 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005000802RCV005645821

NM_000478.6(ALPL):c.332C>T (p.Ala111Val) SNV
Germline
Chr1:21563144 Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005052133RCV005105382

NM_000478.6(ALPL):c.1015G>C (p.Gly339Arg) SNV
Germline
Chr1:21575750 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005087577RCV005645830

NM_000478.6(ALPL):c.314C>T (p.Ala105Val) SNV
Germline
Chr1:21563126 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005113083RCV005645831

NM_000478.6(ALPL):c.2T>C (p.Met1Thr) SNV
Germline
Chr1:21554083 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Hypophosphataemia or rickets
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005154396RCV005645835RCV006631297

NM_000478.6(ALPL):c.1195G>A (p.Ala399Thr) SNV
Germline
Chr1:21576527 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005156247RCV005645838

NM_000478.6(ALPL):c.305A>C (p.Asn102Thr) SNV
Germline
Chr1:21563117 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005180612RCV005645840

NM_000478.6(ALPL):c.1471G>C (p.Gly491Arg) SNV
Germline
Chr1:21577544 Pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005193398RCV005417509

NM_000478.6(ALPL):c.599G>A (p.Gly200Asp) SNV
Germline
Chr1:21564167 Conflicting classifications of pathogenicity Condition: not provided
Hypophosphatasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005197978RCV005645845

NM_000478.6(ALPL):c.653T>C (p.Ile218Thr) SNV
Germline
Chr1:21568108 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005197979RCV005241130

NM_000478.6(ALPL):c.1133A>G (p.Asp378Gly) SNV
Germline
Chr1:21575868 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005197983RCV005645846

NM_000478.6(ALPL):c.1165A>G (p.Thr389Ala) SNV
Germline
Chr1:21575900 Pathogenic/Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005197984RCV005645847

NM_000478.6(ALPL):c.1366G>T (p.Gly456Trp) SNV
Germline
Chr1:21577439 Likely pathogenic Condition: not provided
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005197986RCV005645848

NM_000478.6(ALPL):c.485G>A (p.Gly162Asp) SNV
Germline
Chr1:21564053 Likely pathogenic Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005187054RCV005645843RCV006270672

NM_000478.6(ALPL):c.511C>T (p.His171Tyr) SNV
Germline
Chr1:21564079 Pathogenic ALPL-related disorder
Hypophosphatasia
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005233351RCV005645855

NM_000478.6(ALPL):c.977G>T (p.Gly326Val) SNV
Germline
Chr1:21573779 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005236894

NM_000478.6(ALPL):c.228G>T (p.Gln76His) SNV
Germline
Chr1:21561143 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005237122

NM_000478.6(ALPL):c.311A>G (p.Asn104Ser) SNV
Germline
Chr1:21563123 Conflicting classifications of pathogenicity not specified
Hypophosphatasia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005241182RCV005645858

NM_000478.6(ALPL):c.182-1G>A SNV
Germline
Chr1:21561096 Pathogenic/Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005255078

NM_000478.6(ALPL):c.181+2T>C SNV
Germline
Chr1:21560747 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005407559

NM_000478.6(ALPL):c.917A>T (p.Asp306Val) SNV
Germline
Chr1:21573719 Pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005408341

NM_000478.6(ALPL):c.306C>A (p.Asn102Lys) SNV
Germline
Chr1:21563118 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005410883

NM_000478.6(ALPL):c.82T>G (p.Tyr28Asp) SNV
Germline
Chr1:21560646 Pathogenic/Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005431261

NM_000478.6(ALPL):c.1334C>G (p.Ser445Cys) SNV
Germline
Chr1:21577407 Likely pathogenic Hypophosphatasia No Assertion Criteria Provided

1 SubmittersRCV005605631

NM_000478.6(ALPL):c.297+1G>A SNV
Germline
Chr1:21561213 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

2 SubmittersRCV005605721

NM_000478.6(ALPL):c.1307A>G (p.Tyr436Cys) SNV
Germline
Chr1:21576639 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

2 SubmittersRCV005605791

NM_000478.6(ALPL):c.1033G>C (p.Ala345Pro) SNV
Germline
Chr1:21575768 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications

2 SubmittersRCV005624155

NM_000478.6(ALPL):c.317A>G (p.Gln106Arg) SNV
Germline
Chr1:21563129 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646611

NM_000478.6(ALPL):c.327C>A (p.Asp109Glu) SNV
Germline
Chr1:21563139 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646612

NM_000478.6(ALPL):c.334G>C (p.Gly112Arg) SNV
Germline
Chr1:21563146 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646613

NM_000478.6(ALPL):c.50C>T (p.Ser17Phe) SNV
Germline
Chr1:21554131 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646615

NM_000478.6(ALPL):c.401C>A (p.Thr134Asn) SNV
Germline
Chr1:21563213 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646621

NM_000478.6(ALPL):c.407G>T (p.Arg136Leu) SNV
Germline
Chr1:21563219 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646622

NM_000478.6(ALPL):c.442A>G (p.Thr148Ala) SNV
Germline
Chr1:21563254 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646623

NM_000478.6(ALPL):c.457T>A (p.Trp153Arg) SNV
Germline
Chr1:21563269 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646625

NM_000478.6(ALPL):c.461C>T (p.Ala154Val) SNV
Germline
Chr1:21563273 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646626

NM_000478.6(ALPL):c.472+1G>A SNV
Germline
Chr1:21563285 Pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646628RCV006484925

NM_000478.6(ALPL):c.473-2A>G SNV
Germline
Chr1:21564039 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646630

NM_000478.6(ALPL):c.83A>G (p.Tyr28Cys) SNV
Germline
Chr1:21560647 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646632

NM_000478.6(ALPL):c.85T>C (p.Trp29Arg) SNV
Germline
Chr1:21560649 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646634

NM_000478.6(ALPL):c.562T>C (p.Ser188Pro) SNV
Germline
Chr1:21564130 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646635

NM_000478.6(ALPL):c.595C>T (p.Gln199Ter) SNV
Germline
Chr1:21564163 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646638

NM_000478.6(ALPL):c.634A>T (p.Ile212Phe) SNV
Germline
Chr1:21564202 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646640

NM_000478.6(ALPL):c.644T>C (p.Ile215Thr) SNV
Germline
Chr1:21564212 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications

2 SubmittersRCV005646641

NM_000478.6(ALPL):c.678G>T (p.Met226Ile) SNV
Germline
Chr1:21568133 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646643

NM_000478.6(ALPL):c.704A>G (p.Glu235Gly) SNV
Germline
Chr1:21568159 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646644

NM_000478.6(ALPL):c.708T>G (p.Tyr236Ter) SNV
Germline
Chr1:21568163 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646645

NM_000478.6(ALPL):c.862+1G>C SNV
Germline
Chr1:21570375 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646652

NM_000478.6(ALPL):c.863G>C (p.Gly288Ala) SNV
Germline
Chr1:21573665 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646655

NM_000478.6(ALPL):c.865C>T (p.Leu289Phe) SNV
Germline
Chr1:21573667 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646656

NM_000478.6(ALPL):c.870C>G (p.Phe290Leu) SNV
Germline
Chr1:21573672 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646657

NM_000478.6(ALPL):c.875C>T (p.Pro292Leu) SNV
Germline
Chr1:21573677 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646658

NM_000478.6(ALPL):c.885G>A (p.Met295Ile) SNV
Germline
Chr1:21573687 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646661

NM_000478.6(ALPL):c.889T>G (p.Tyr297Asp) SNV
Germline
Chr1:21573691 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646662

NM_000478.6(ALPL):c.889T>C (p.Tyr297His) SNV
Germline
Chr1:21573691 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646663

NM_000478.6(ALPL):c.982T>C (p.Phe328Leu) SNV
Germline
Chr1:21573784 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646667

NM_000478.6(ALPL):c.998-1G>A SNV
Germline
Chr1:21575732 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646668

NM_000478.6(ALPL):c.998-1G>T SNV
Germline
Chr1:21575732 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646669

NM_000478.6(ALPL):c.139A>C (p.Asn47His) SNV
Germline
Chr1:21560703 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646671

NM_000478.6(ALPL):c.1000G>C (p.Gly334Arg) SNV
Germline
Chr1:21575735 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646672

NM_000478.6(ALPL):c.1009G>A (p.Asp337Asn) SNV
Germline
Chr1:21575744 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646673

NM_000478.6(ALPL):c.1019A>C (p.His340Pro) SNV
Germline
Chr1:21575754 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646675

NM_000478.6(ALPL):c.1023T>G (p.His341Gln) SNV
Germline
Chr1:21575758 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646676

NM_000478.6(ALPL):c.1043C>A (p.Ala348Asp) SNV
Germline
Chr1:21575778 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646677

NM_000478.6(ALPL):c.1052A>G (p.Glu351Gly) SNV
Germline
Chr1:21575787 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646680

NM_000478.6(ALPL):c.151G>T (p.Ala51Ser) SNV
Germline
Chr1:21560715 Conflicting classifications of pathogenicity Hypophosphatasia
not specified
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005646683RCV006457503

NM_000478.6(ALPL):c.1112C>A (p.Thr371Asn) SNV
Germline
Chr1:21575847 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646685

NM_000478.6(ALPL):c.1135C>A (p.His379Asn) SNV
Germline
Chr1:21575870 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646686

NM_000478.6(ALPL):c.1156G>T (p.Gly386Cys) SNV
Germline
Chr1:21575891 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646688

NM_000478.6(ALPL):c.1178A>G (p.Asn393Ser) SNV
Germline
Chr1:21575913 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646690

NM_000478.6(ALPL):c.3G>A (p.Met1Ile) SNV
Germline
Chr1:21554084 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646691

NM_000478.6(ALPL):c.1216G>A (p.Asp406Asn) SNV
Germline
Chr1:21576548 Likely pathogenic Hypophosphatasia Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646696

NM_000478.6(ALPL):c.182-2A>C SNV
Germline
Chr1:21561095 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646698

NM_000478.6(ALPL):c.1259G>T (p.Gly420Val) SNV
Germline
Chr1:21576591 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646700

NM_000478.6(ALPL):c.1277G>C (p.Gly426Ala) SNV
Germline
Chr1:21576609 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646703RCV006613620

NM_000478.6(ALPL):c.1276G>T (p.Gly426Cys) SNV
Germline
Chr1:21576608 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646704

NM_000478.6(ALPL):c.1287G>T (p.Glu429Asp) SNV
Germline
Chr1:21576619 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646705

NM_000478.6(ALPL):c.1289A>G (p.Asn430Ser) SNV
Germline
Chr1:21576621 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646706

NM_000478.6(ALPL):c.1309+2T>C SNV
Germline
Chr1:21576643 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646708

NM_000478.6(ALPL):c.186G>C (p.Met62Ile) SNV
Germline
Chr1:21561101 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646710

NM_000478.6(ALPL):c.1323C>A (p.Tyr441Ter) SNV
Germline
Chr1:21577396 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646711

NM_000478.6(ALPL):c.1328C>A (p.Ala443Glu) SNV
Germline
Chr1:21577401 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646712

NM_000478.6(ALPL):c.186G>A (p.Met62Ile) SNV
Germline
Chr1:21561101 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646714

NM_000478.6(ALPL):c.1361A>G (p.His454Arg) SNV
Germline
Chr1:21577434 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646715

NM_000478.6(ALPL):c.1397C>T (p.Pro466Leu) SNV
Germline
Chr1:21577470 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646717

NM_000478.6(ALPL):c.1399A>G (p.Met467Val) SNV
Germline
Chr1:21577472 Conflicting classifications of pathogenicity Hypophosphatasia Criteria Provided
Conflicting Classifications

2 SubmittersRCV005646718

NM_000478.6(ALPL):c.184A>G (p.Met62Val) SNV
Germline
Chr1:21561099 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646719

NM_000478.6(ALPL):c.1433A>T (p.Asn478Ile) SNV
Germline
Chr1:21577506 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646720

NM_000478.6(ALPL):c.187G>C (p.Gly63Arg) SNV
Germline
Chr1:21561102 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646721

NM_000478.6(ALPL):c.1466G>C (p.Cys489Ser) SNV
Germline
Chr1:21577539 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646723

NM_000478.6(ALPL):c.1489T>C (p.Cys497Arg) SNV
Germline
Chr1:21577562 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646724

NM_000478.6(ALPL):c.1490G>A (p.Cys497Tyr) SNV
Germline
Chr1:21577563 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646725

NM_000478.6(ALPL):c.205G>A (p.Ala69Thr) SNV
Germline
Chr1:21561120 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646729

NM_000478.6(ALPL):c.17T>C (p.Leu6Ser) SNV
Germline
Chr1:21554098 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646730

NM_000478.6(ALPL):c.224G>A (p.Gly75Asp) SNV
Germline
Chr1:21561139 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646732

NM_000478.6(ALPL):c.17T>A (p.Leu6Ter) SNV
Germline
Chr1:21554098 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646734

NM_000478.6(ALPL):c.250G>A (p.Glu84Lys) SNV
Germline
Chr1:21561165 Pathogenic/Likely pathogenic Hypophosphatasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005646737RCV006613621

NM_000478.6(ALPL):c.251A>T (p.Glu84Val) SNV
Germline
Chr1:21561166 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646738

NM_000478.6(ALPL):c.253A>C (p.Thr85Pro) SNV
Germline
Chr1:21561168 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646739

NM_000478.6(ALPL):c.277C>T (p.Pro93Ser) SNV
Germline
Chr1:21561192 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646740

NM_000478.6(ALPL):c.298-2A>G SNV
Germline
Chr1:21563108 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646743

NM_000478.6(ALPL):c.298-1G>C SNV
Germline
Chr1:21563109 Pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646744

NM_000478.6(ALPL):c.301T>G (p.Tyr101Asp) SNV
Germline
Chr1:21563113 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005646745

NM_000478.6(ALPL):c.622C>T (p.Leu208Phe) SNV
Germline
Chr1:21564190 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005938232

NM_000478.6(ALPL):c.863-2A>G SNV
Germline
Chr1:21573663 Likely pathogenic Infantile hypophosphatasia No Assertion Criteria Provided

1 SubmittersRCV006249196

NM_000478.6(ALPL):c.704A>T (p.Glu235Val) SNV
Germline
Chr1:21568159 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV005938231

NM_000478.6(ALPL):c.883A>C (p.Met295Leu) SNV
Germline
Chr1:21573685 Likely pathogenic Childhood hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Criteria Provided
Single Submitter

1 SubmittersRCV006249442

NM_000478.6(ALPL):c.1151C>A (p.Thr384Lys) SNV
Germline
Chr1:21575886 Likely pathogenic Hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV006278816

NM_000478.6(ALPL):c.533A>G (p.Tyr178Cys) SNV
Germline
Chr1:21564101 Pathogenic Adult hypophosphatasia Criteria Provided
Single Submitter

1 SubmittersRCV006454944