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 SubmittersRCV000014648 RCV001093406 RCV001582482 RCV002496361 RCV003466856
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 SubmittersRCV000014649 RCV001851857 RCV003466857 RCV004700234 RCV004739304
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 SubmittersRCV000014650 RCV000014651 RCV000014652 RCV000224505 RCV000589324 RCV002496362 RCV002276545 RCV004549362 RCV006302137
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 SubmittersRCV000014653 RCV001362179 RCV003460473 RCV003486545
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 SubmittersRCV000014654 RCV000224906 RCV005644483
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 SubmittersRCV000014655 RCV001042961 RCV001273156 RCV001333468 RCV003473099 RCV005016263
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 SubmittersRCV000014656 RCV005644484 RCV006274982
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 SubmittersRCV000014657 RCV001549327 RCV001582483 RCV002504785 RCV004549363 RCV003460474 RCV005624690
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 SubmittersRCV000014658 RCV000014659 RCV000014660 RCV000207183 RCV000224962 RCV000763300 RCV001250150 RCV002513051 RCV002276546 RCV004584327 RCV004739305 RCV005867756
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 SubmittersRCV000014662 RCV000014661 RCV000207084 RCV000224520 RCV000763302 RCV001847606 RCV004549364 RCV004984641
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 SubmittersRCV000014663 RCV000207270 RCV000224376 RCV000763301 RCV000786923 RCV002276547 RCV004549365
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 SubmittersRCV000014664 RCV000380876 RCV000207096 RCV000724148 RCV002504786 RCV004549366
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 SubmittersRCV000014666 RCV000169168 RCV000364426 RCV000767525 RCV000770988 RCV002490366 RCV002276548 RCV004798728 RCV006249557
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 SubmittersRCV000014667 RCV000670940 RCV001239346 RCV005644485
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 SubmittersRCV000014670 RCV000014668 RCV000014669 RCV000169426 RCV000224118 RCV000590781 RCV004549367
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 SubmittersRCV000014671 RCV000710058 RCV001227927 RCV001553715 RCV003466858 RCV004549368 RCV005862716 RCV005016264 RCV005338073
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 SubmittersRCV000014672 RCV000169778 RCV000710510 RCV001194283 RCV001253058 RCV004719646 RCV004739306 RCV005016265 RCV006439573 RCV006633885
NM_000478.6(ALPL):c.323C>T (p.Pro108Leu)	SNV Germline	Chr1:21563135	Pathogenic	Odontohypophosphatasia Hypophosphatasia	Criteria Provided Single Submitter	CA123349	rs_121918015	2 SubmittersRCV000014673 RCV005644486
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 SubmittersRCV000014674 RCV001387538 RCV003448247 RCV004786260
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 SubmittersRCV000014675 RCV000014676 RCV000723607 RCV000668001 RCV001826462 RCV003466859 RCV003335039
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 SubmittersRCV000014677 RCV000014678 RCV000763299 RCV000808101 RCV001275108 RCV002276549 RCV002288490 RCV004549369 RCV006277646
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 SubmittersRCV000014679 RCV000169779 RCV000817506 RCV001804731 RCV003473100 RCV005007851 RCV004549370 RCV006633886
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 SubmittersRCV000169295 RCV001204937 RCV003474904 RCV004552944 RCV005008090 RCV005645030
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 SubmittersRCV000169128 RCV000729215 RCV001196302 RCV002265652 RCV002505222 RCV002516529 RCV003462265
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 SubmittersRCV000169383 RCV001208323 RCV001831990 RCV003468842
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 SubmittersRCV000169064 RCV001264499 RCV001378582 RCV002498840 RCV003462263
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 SubmittersRCV000169412 RCV001582665 RCV002515199 RCV003468843 RCV005008091 RCV006554486
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 SubmittersRCV000169122 RCV002515193 RCV005645029
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 SubmittersRCV000169514 RCV001850403 RCV003468845 RCV004586588
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 SubmittersRCV000178776 RCV001835709
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 SubmittersRCV000178777 RCV001096294 RCV002515269 RCV005008106
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 SubmittersRCV000393235 RCV002509350 RCV002494864 RCV005645067
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 SubmittersRCV000322603 RCV003463768 RCV002509351 RCV005008257
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 SubmittersRCV000263557 RCV000710516 RCV001820834 RCV002519300 RCV004549605
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 SubmittersRCV001098040 RCV001660555 RCV000398912
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 SubmittersRCV000388202 RCV000726419 RCV003488505 RCV005895886
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 SubmittersRCV000404402 RCV000502406 RCV000941105 RCV004021421 RCV004739667 RCV005016688
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 SubmittersRCV000341004 RCV001425435
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 SubmittersRCV000309784 RCV005090425
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 SubmittersRCV000385133 RCV001486728
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 SubmittersRCV000317133 RCV001363813 RCV004549650
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 SubmittersRCV000409382 RCV004549832 RCV006462573 RCV005900629
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 SubmittersRCV000410316 RCV001050992 RCV002502420 RCV005418102
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 SubmittersRCV000408970 RCV001175579 RCV001389814
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 SubmittersRCV000410728 RCV001214322 RCV005010297 RCV005645079 RCV006554516
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 SubmittersRCV000412264 RCV003558360
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 SubmittersRCV000411905 RCV001861389 RCV004796165 RCV005645077
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 SubmittersRCV000411942 RCV000778967 RCV001045527 RCV001580493 RCV003470350 RCV005018702
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 SubmittersRCV000410612 RCV004567887 RCV005010294 RCV006458327
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 SubmittersRCV000418497 RCV001828429 RCV002480316
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 SubmittersRCV000428517 RCV000984145 RCV001833531 RCV003470381 RCV002480299 RCV005869420
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 SubmittersRCV000418683 RCV002278676 RCV004567908 RCV005645085
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 SubmittersRCV000733233 RCV003482143
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 SubmittersRCV000490714 RCV001067182 RCV001273158 RCV001535923 RCV001580504 RCV002279265 RCV003470594 RCV004568606
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 SubmittersRCV000490737 RCV001851327 RCV005645093 RCV003470595 RCV005010406
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 SubmittersRCV000490707 RCV001380649 RCV001805108 RCV002464210 RCV004740265 RCV006257296
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 SubmittersRCV000522077 RCV000709831 RCV003470650
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 SubmittersRCV000587658 RCV000674432 RCV001597180 RCV002279370 RCV003459459 RCV005010562
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 SubmittersRCV000595916 RCV005010577 RCV005645111
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 SubmittersRCV000623730 RCV000674297 RCV001046115 RCV001730702 RCV002279446 RCV003465357 RCV005251002
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 SubmittersRCV000622740 RCV003727784 RCV005645118
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 SubmittersRCV000666764 RCV005091931
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 SubmittersRCV000674250 RCV005645151 RCV006463857
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 SubmittersRCV000664832 RCV002530636 RCV005645132
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 SubmittersRCV000667160 RCV001855475 RCV003465465 RCV005407861
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 SubmittersRCV000669273 RCV004568522 RCV005645140
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 SubmittersRCV000665524 RCV003558484 RCV004568494 RCV005645134
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 SubmittersRCV000669326 RCV001300265 RCV001730705 RCV004568525 RCV005010659 RCV006629188
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 SubmittersRCV000671010 RCV001861800 RCV003465505 RCV005010665 RCV005645145
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 SubmittersRCV000666790 RCV003558489 RCV005645135
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 SubmittersRCV000667672 RCV004017715 RCV004586858 RCV005019121 RCV005091934
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 SubmittersRCV000674894 RCV001225796 RCV005407873
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 SubmittersRCV000664567 RCV001377620 RCV003459565 RCV005010646 RCV005407855
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 SubmittersRCV000672920 RCV001597199 RCV005645149
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 SubmittersRCV000664774 RCV002532036 RCV005240419
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 SubmittersRCV000671791 RCV001378583 RCV003465511 RCV004547844 RCV005019143 RCV005645146
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 SubmittersRCV000672795 RCV001071997 RCV003465518 RCV003155277
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 SubmittersRCV000669598 RCV001378584 RCV004586861 RCV005019133
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 SubmittersRCV000673035 RCV000778223 RCV000806323 RCV001252803 RCV002249400 RCV002271560 RCV002531329 RCV005019152
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 SubmittersRCV000668470 RCV005645139
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 SubmittersRCV000668539 RCV001066978 RCV001829847 RCV003472101 RCV004547840 RCV005010656
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 SubmittersRCV000666509 RCV000763304 RCV001036085 RCV001829834 RCV003465452 RCV006277988
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 SubmittersRCV000670035 RCV001236036 RCV003225733 RCV005645141
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 SubmittersRCV000674883 RCV001093407 RCV003226368 RCV004568571
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 SubmittersRCV000665189 RCV000763303 RCV001050932 RCV001275110 RCV002279480 RCV003465439 RCV004026080 RCV004740395
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 SubmittersRCV000665417 RCV001063207 RCV001532998 RCV004568492 RCV005645133
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 SubmittersRCV000674648 RCV003558529 RCV004800532
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 SubmittersRCV000672960 RCV001789781 RCV001855588 RCV003465521 RCV005645150
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 SubmittersRCV000710511 RCV001825412 RCV002279495 RCV002507242
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 SubmittersRCV000722315 RCV003465651 RCV005021121
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 SubmittersRCV000730364 RCV001825460 RCV002493325 RCV003465663
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 SubmittersRCV000761222 RCV002533861 RCV004689876 RCV005021150
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 SubmittersRCV000789000 RCV002510977 RCV002487628 RCV006270234
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 SubmittersRCV000943917 RCV005021283
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 SubmittersRCV000944353 RCV005021284
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 SubmittersRCV001382223 RCV003229004 RCV004553548 RCV004782623 RCV005021310
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 SubmittersRCV001029819 RCV003447575 RCV001248534
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 SubmittersRCV001054292 RCV002497417 RCV005645201
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 SubmittersRCV001063193 RCV003448366 RCV004547968 RCV005021404
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 SubmittersRCV001041986 RCV001827252 RCV004553575
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 SubmittersRCV001048323 RCV003387956 RCV003467753 RCV005021369
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 SubmittersRCV001047689 RCV001844265 RCV002479289 RCV003462538 RCV004553586 RCV004986759 RCV005645198
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 SubmittersRCV001058683 RCV001810492 RCV001732028 RCV003467795 RCV006446011
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 SubmittersRCV001101711 RCV001559152 RCV001559150 RCV001559151 RCV002067773
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 SubmittersRCV001096291 RCV001457430 RCV004547980
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 SubmittersRCV001096292 RCV001494409
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 SubmittersRCV001096293 RCV002554893 RCV002497500 RCV005863353 RCV006633968 RCV003469293
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 SubmittersRCV001098041 RCV002067748
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 SubmittersRCV001098042 RCV001439601
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 SubmittersRCV001099814 RCV001243649 RCV005021442
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 SubmittersRCV001101805 RCV001395014 RCV004547985
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 SubmittersRCV001096385 RCV001461342
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 SubmittersRCV001351723 RCV001822864
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 SubmittersRCV001194282 RCV001205339 RCV003469310 RCV005021487
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 SubmittersRCV001196910 RCV002560228 RCV005021490 RCV005645222
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 SubmittersRCV001195741 RCV001387323 RCV001779133 RCV002560208 RCV005908938
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 SubmittersRCV001213860 RCV004570471 RCV005645226
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 SubmittersRCV001210319 RCV002497720 RCV003462706 RCV005236686
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 SubmittersRCV001207052 RCV003462693 RCV005021503 RCV005645224
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 SubmittersRCV001238820 RCV001257429 RCV001253680 RCV002290655 RCV003235509 RCV006629268
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 SubmittersRCV001243051 RCV001257096 RCV003469463 RCV004740628 RCV004800747 RCV005014299 RCV006443789
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 SubmittersRCV001247327 RCV001830009 RCV002484387 RCV003469476
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 SubmittersRCV001245174 RCV001835229
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 SubmittersRCV001251316 RCV002568714 RCV004584429 RCV003462830 RCV004727050
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 SubmittersRCV001253054 RCV001264416 RCV001389813 RCV004740636 RCV005012697
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 SubmittersRCV001253667 RCV005645237 RCV005057166
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 SubmittersRCV001253015 RCV005094212
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 SubmittersRCV001253034 RCV001879863 RCV004548107 RCV004782688 RCV005014309 RCV006629270
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 SubmittersRCV001253668 RCV001822869 RCV006616457
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 SubmittersRCV001257430 RCV006557272
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 SubmittersRCV001264483 RCV003320818 RCV005014317
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 SubmittersRCV001280814 RCV001871622 RCV005645247
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 SubmittersRCV001835365 RCV001813150
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 SubmittersRCV001306765 RCV001830233 RCV005014380
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 SubmittersRCV001300266 RCV001830171 RCV005012740
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 SubmittersRCV001300488 RCV003447585 RCV005014362
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 SubmittersRCV001319736 RCV005645255
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 SubmittersRCV001332475 RCV001385128 RCV002509664 RCV003469560 RCV003389335 RCV005014441 RCV006629279
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 SubmittersRCV001351724 RCV001825976 RCV003469587
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 SubmittersRCV001338594 RCV005645261
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 SubmittersRCV001366072 RCV004554858 RCV005014495
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 SubmittersRCV001378581 RCV001826142 RCV003469635
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 SubmittersRCV001390683 RCV003447597
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 SubmittersRCV001389815 RCV002493933 RCV003469764 RCV003479323
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 SubmittersRCV001382221 RCV001836391 RCV003388008 RCV004556085 RCV006446126
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 SubmittersRCV001382222 RCV003469672 RCV005645272
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 SubmittersRCV001389868 RCV001449738 RCV003469765 RCV005645275
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 SubmittersRCV001389954 RCV002282538 RCV003473994
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 SubmittersRCV001389955 RCV002286432 RCV003463033 RCV004526122 RCV004796630
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 SubmittersRCV001387054 RCV003771260
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 SubmittersRCV001389956 RCV001831402 RCV003473995 RCV005014548 RCV005232309
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 SubmittersRCV001387322 RCV002551555 RCV003469729 RCV004740679 RCV005645274 RCV005014538
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 SubmittersRCV001388004 RCV003463021
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 SubmittersRCV001385127 RCV003331144 RCV004570954 RCV004740678
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 SubmittersRCV001398541 RCV005014553
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 SubmittersRCV001542259 RCV002032527
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 SubmittersRCV001596859 RCV002271662 RCV003470871
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 SubmittersRCV001596919 RCV003333168 RCV003470872 RCV005014602
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 SubmittersRCV001731123 RCV001861033 RCV002496057 RCV003474016
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 SubmittersRCV001756581 RCV001806253 RCV005645291
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 SubmittersRCV001769013 RCV002488589 RCV003987903
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 SubmittersRCV001785916 RCV003464139 RCV003317526 RCV005014660
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 SubmittersRCV001787438 RCV005645303
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 SubmittersRCV001789735 RCV005645304
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 SubmittersRCV001810539 RCV003772268 RCV005645308
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 SubmittersRCV001813915 RCV003728016 RCV004552033
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 SubmittersRCV001815059 RCV005409022
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 SubmittersRCV001815062 RCV005095236
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 SubmittersRCV001815064 RCV004762189 RCV004774469
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 SubmittersRCV001823791 RCV004552045 RCV002489891 RCV005095289
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 SubmittersRCV002008130 RCV003475266 RCV005645347
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 SubmittersRCV001897390 RCV005016734
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 SubmittersRCV001966113 RCV005645342
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 SubmittersRCV001974856 RCV002507646 RCV005645334
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 SubmittersRCV001990288 RCV005645341
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 SubmittersRCV001999838 RCV002492119 RCV003226510 RCV003471131
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 SubmittersRCV001991149 RCV005645348 RCV005017000
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 SubmittersRCV001884220 RCV003464207 RCV004765360 RCV005016747
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 SubmittersRCV002014284 RCV003448446
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 SubmittersRCV002014391 RCV005645359
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 SubmittersRCV001970877 RCV002497930 RCV004571868
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 SubmittersRCV001972664 RCV003471180 RCV005008303 RCV005645338
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 SubmittersRCV001972665 RCV002276955 RCV003475237 RCV005645339
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 SubmittersRCV001953835 RCV004587273 RCV005016955
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 SubmittersRCV001972666 RCV004571737 RCV003772952 RCV005016956
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 SubmittersRCV001949280 RCV003448440 RCV003471181 RCV004552136
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 SubmittersRCV001973364 RCV002276963 RCV002479619 RCV003464338 RCV005432880
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 SubmittersRCV001966584 RCV003448441
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 SubmittersRCV001999274 RCV005645355
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 SubmittersRCV001999288 RCV003471247 RCV005645356
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 SubmittersRCV003471220 RCV001969277 RCV005645344
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 SubmittersRCV001976034 RCV002497923 RCV003471221 RCV004553602 RCV005645345
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 SubmittersRCV001983794 RCV003447615
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 SubmittersRCV001942167 RCV004554881
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 SubmittersRCV001942171 RCV003447611
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 SubmittersRCV001939650 RCV003401965 RCV002492124 RCV003471161 RCV005253972
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 SubmittersRCV001939652 RCV003471162 RCV004699585 RCV005016944
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 SubmittersRCV002011511 RCV005645357
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 SubmittersRCV002011524 RCV005017072 RCV005645358
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 SubmittersRCV001972846 RCV004765362
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 SubmittersRCV001925196 RCV002555640 RCV003475155 RCV004699541
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 SubmittersRCV001897020 RCV005645320
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 SubmittersRCV001903527 RCV002300620 RCV004571581 RCV005016799
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 SubmittersRCV002001562 RCV002236196 RCV003471236 RCV005008367
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 SubmittersRCV001974645 RCV002271703 RCV004571659
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 SubmittersRCV001974667 RCV002243489 RCV003464266 RCV005016892 RCV005238090
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 SubmittersRCV001963563 RCV003485756 RCV005645340
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 SubmittersRCV002227833 RCV003679078
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 SubmittersRCV002243537 RCV003718453
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 SubmittersRCV002277788 RCV003560918 RCV005645371
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 SubmittersRCV002277811 RCV003096238 RCV005356077 RCV004784046
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 SubmittersRCV002294767 RCV004765370
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 SubmittersRCV002475381 RCV005645397
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 SubmittersRCV002630052 RCV003475519 RCV004741421 RCV005645430
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 SubmittersRCV002630053 RCV003324080 RCV003465995
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 SubmittersRCV002664152 RCV005645431 RCV006307325
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 SubmittersRCV002648132 RCV005645432
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 SubmittersRCV002648133 RCV005645433
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 SubmittersRCV002648134 RCV003388160
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 SubmittersRCV002648135 RCV005645434
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 SubmittersRCV002630054 RCV005645436
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 SubmittersRCV002664154 RCV005645437
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 SubmittersRCV003106570 RCV003447645
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 SubmittersRCV003108467 RCV005645446
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 SubmittersRCV002589298 RCV005008637
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 SubmittersRCV002613170 RCV003447629 RCV005860317
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 SubmittersRCV002578616 RCV003230752 RCV005645401
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 SubmittersRCV002593743 RCV004548329 RCV005419473 RCV005645402
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 SubmittersRCV002609022 RCV003447630 RCV003989774 RCV005239465 RCV005019280
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 SubmittersRCV002622478 RCV004725335 RCV003447632
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 SubmittersRCV002740374 RCV004700815 RCV006249834
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 SubmittersRCV002791125 RCV005645407 RCV004571261
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 SubmittersRCV002791812 RCV005019409
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 SubmittersRCV002838166 RCV003447636 RCV006257367
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 SubmittersRCV002843244 RCV005645411
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 SubmittersRCV002881363 RCV004554889
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 SubmittersRCV002890172 RCV003464631
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 SubmittersRCV003034022 RCV004587409 RCV005608834
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 SubmittersRCV003317752 RCV003561293 RCV004572920
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 SubmittersRCV003323272 RCV003561297
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 SubmittersRCV003332033 RCV005645469
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 SubmittersRCV003388642 RCV005410957
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 SubmittersRCV003412871 RCV005645478
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 SubmittersRCV003447839 RCV006473183
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 SubmittersRCV003447912 RCV004721194
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 SubmittersRCV003448502 RCV003553942
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 SubmittersRCV003448555 RCV003708802
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 SubmittersRCV003448653 RCV003466079
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 SubmittersRCV003448655 RCV003553944 RCV003459864
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 SubmittersRCV003470050 RCV004801350 RCV005645482
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 SubmittersRCV003470075 RCV005645483
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 SubmittersRCV003461845 RCV003689092
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 SubmittersRCV003470102 RCV005645484 RCV006473232
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 SubmittersRCV003476483 RCV003553956 RCV005645485
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 SubmittersRCV003461857 RCV003553957 RCV005645486
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 SubmittersRCV003461858 RCV005021973 RCV006473233
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 SubmittersRCV003470120 RCV003553958 RCV004801351 RCV005645487
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 SubmittersRCV003470123 RCV005645488
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 SubmittersRCV003470190 RCV005645489
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 SubmittersRCV003470203 RCV005645490
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 SubmittersRCV003463221 RCV003553961 RCV004540683 RCV004526261 RCV005012963 RCV005871178
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 SubmittersRCV003448902 RCV003661056
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 SubmittersRCV003562213 RCV005645502
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 SubmittersRCV003562214 RCV005645503
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 SubmittersRCV003562216 RCV005645504
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 SubmittersRCV003562218 RCV005645505
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 SubmittersRCV003562219 RCV005645506
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 SubmittersRCV003562220 RCV005645507
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 SubmittersRCV003562223 RCV005645508
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 SubmittersRCV003562227 RCV005419650
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 SubmittersRCV003567461 RCV004540724 RCV005014802 RCV004526999
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 SubmittersRCV003533801 RCV004690448
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 SubmittersRCV003709343 RCV005052064
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 SubmittersRCV003691668 RCV005645514
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 SubmittersRCV003723537 RCV005645515 RCV004784171
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 SubmittersRCV003716343 RCV005254859
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 SubmittersRCV003713087 RCV005013121
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 SubmittersRCV003737088 RCV005645768
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 SubmittersRCV003859717 RCV004765385
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 SubmittersRCV004586481 RCV004690511 RCV005015203
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 SubmittersRCV004789984 RCV005017281
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 SubmittersRCV004812199 RCV005647412
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 SubmittersRCV005007737 RCV005112630 RCV005645826
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 SubmittersRCV005022230 RCV006565784
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 SubmittersRCV005022308 RCV005645824
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 SubmittersRCV005007711 RCV005645825
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 SubmittersRCV005007491 RCV005645823 RCV006270654
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 SubmittersRCV005007546 RCV006269983 RCV006489102
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 SubmittersRCV005000802 RCV005645821
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 SubmittersRCV005052133 RCV005105382
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 SubmittersRCV005087577 RCV005645830
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 SubmittersRCV005113083 RCV005645831
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 SubmittersRCV005154396 RCV005645835 RCV006631297
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 SubmittersRCV005156247 RCV005645838
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 SubmittersRCV005180612 RCV005645840
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 SubmittersRCV005193398 RCV005417509
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 SubmittersRCV005197978 RCV005645845
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 SubmittersRCV005197979 RCV005241130
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 SubmittersRCV005197983 RCV005645846
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 SubmittersRCV005197984 RCV005645847
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 SubmittersRCV005197986 RCV005645848
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 SubmittersRCV005187054 RCV005645843 RCV006270672
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 SubmittersRCV005233351 RCV005645855
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 SubmittersRCV005241182 RCV005645858
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 SubmittersRCV005646628 RCV006484925
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 SubmittersRCV005646683 RCV006457503
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 SubmittersRCV005646703 RCV006613620
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 SubmittersRCV005646737 RCV006613621
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

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 SubmittersRCV000014648 RCV001093406 RCV001582482 RCV002496361 RCV003466856

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 SubmittersRCV000014649 RCV001851857 RCV003466857 RCV004700234 RCV004739304

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 SubmittersRCV000014650 RCV000014651 RCV000014652 RCV000224505 RCV000589324 RCV002496362 RCV002276545 RCV004549362 RCV006302137

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 SubmittersRCV000014653 RCV001362179 RCV003460473 RCV003486545

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 SubmittersRCV000014654 RCV000224906 RCV005644483

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 SubmittersRCV000014655 RCV001042961 RCV001273156 RCV001333468 RCV003473099 RCV005016263

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 SubmittersRCV000014656 RCV005644484 RCV006274982

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 SubmittersRCV000014657 RCV001549327 RCV001582483 RCV002504785 RCV004549363 RCV003460474 RCV005624690

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 SubmittersRCV000014658 RCV000014659 RCV000014660 RCV000207183 RCV000224962 RCV000763300 RCV001250150 RCV002513051 RCV002276546 RCV004584327 RCV004739305 RCV005867756

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 SubmittersRCV000014662 RCV000014661 RCV000207084 RCV000224520 RCV000763302 RCV001847606 RCV004549364 RCV004984641

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 SubmittersRCV000014663 RCV000207270 RCV000224376 RCV000763301 RCV000786923 RCV002276547 RCV004549365

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 SubmittersRCV000014664 RCV000380876 RCV000207096 RCV000724148 RCV002504786 RCV004549366

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 SubmittersRCV000014666 RCV000169168 RCV000364426 RCV000767525 RCV000770988 RCV002490366 RCV002276548 RCV004798728 RCV006249557

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 SubmittersRCV000014667 RCV000670940 RCV001239346 RCV005644485

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 SubmittersRCV000014670 RCV000014668 RCV000014669 RCV000169426 RCV000224118 RCV000590781 RCV004549367

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 SubmittersRCV000014671 RCV000710058 RCV001227927 RCV001553715 RCV003466858 RCV004549368 RCV005862716 RCV005016264 RCV005338073

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 SubmittersRCV000014672 RCV000169778 RCV000710510 RCV001194283 RCV001253058 RCV004719646 RCV004739306 RCV005016265 RCV006439573 RCV006633885

NM_000478.6(ALPL):c.323C>T (p.Pro108Leu)

SNV
Germline

Chr1:21563135

Pathogenic

Odontohypophosphatasia
Hypophosphatasia

Criteria Provided
Single Submitter

CA123349

rs_121918015

2 SubmittersRCV000014673 RCV005644486

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 SubmittersRCV000014674 RCV001387538 RCV003448247 RCV004786260

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 SubmittersRCV000014675 RCV000014676 RCV000723607 RCV000668001 RCV001826462 RCV003466859 RCV003335039

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 SubmittersRCV000014677 RCV000014678 RCV000763299 RCV000808101 RCV001275108 RCV002276549 RCV002288490 RCV004549369 RCV006277646

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 SubmittersRCV000014679 RCV000169779 RCV000817506 RCV001804731 RCV003473100 RCV005007851 RCV004549370 RCV006633886

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 SubmittersRCV000169295 RCV001204937 RCV003474904 RCV004552944 RCV005008090 RCV005645030

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 SubmittersRCV000169128 RCV000729215 RCV001196302 RCV002265652 RCV002505222 RCV002516529 RCV003462265

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 SubmittersRCV000169383 RCV001208323 RCV001831990 RCV003468842

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 SubmittersRCV000169064 RCV001264499 RCV001378582 RCV002498840 RCV003462263

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 SubmittersRCV000169412 RCV001582665 RCV002515199 RCV003468843 RCV005008091 RCV006554486

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 SubmittersRCV000169122 RCV002515193 RCV005645029

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 SubmittersRCV000169514 RCV001850403 RCV003468845 RCV004586588

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 SubmittersRCV000178776 RCV001835709

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 SubmittersRCV000178777 RCV001096294 RCV002515269 RCV005008106

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 SubmittersRCV000393235 RCV002509350 RCV002494864 RCV005645067

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 SubmittersRCV000322603 RCV003463768 RCV002509351 RCV005008257

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 SubmittersRCV000263557 RCV000710516 RCV001820834 RCV002519300 RCV004549605

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 SubmittersRCV001098040 RCV001660555 RCV000398912

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 SubmittersRCV000388202 RCV000726419 RCV003488505 RCV005895886

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 SubmittersRCV000404402 RCV000502406 RCV000941105 RCV004021421 RCV004739667 RCV005016688

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 SubmittersRCV000341004 RCV001425435

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 SubmittersRCV000309784 RCV005090425

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 SubmittersRCV000385133 RCV001486728

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 SubmittersRCV000317133 RCV001363813 RCV004549650

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 SubmittersRCV000409382 RCV004549832 RCV006462573 RCV005900629

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 SubmittersRCV000410316 RCV001050992 RCV002502420 RCV005418102

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 SubmittersRCV000408970 RCV001175579 RCV001389814

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 SubmittersRCV000410728 RCV001214322 RCV005010297 RCV005645079 RCV006554516

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 SubmittersRCV000412264 RCV003558360

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 SubmittersRCV000411905 RCV001861389 RCV004796165 RCV005645077

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 SubmittersRCV000411942 RCV000778967 RCV001045527 RCV001580493 RCV003470350 RCV005018702

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 SubmittersRCV000410612 RCV004567887 RCV005010294 RCV006458327

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 SubmittersRCV000418497 RCV001828429 RCV002480316

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 SubmittersRCV000428517 RCV000984145 RCV001833531 RCV003470381 RCV002480299 RCV005869420

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 SubmittersRCV000418683 RCV002278676 RCV004567908 RCV005645085

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 SubmittersRCV000733233 RCV003482143

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 SubmittersRCV000490714 RCV001067182 RCV001273158 RCV001535923 RCV001580504 RCV002279265 RCV003470594 RCV004568606

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 SubmittersRCV000490737 RCV001851327 RCV005645093 RCV003470595 RCV005010406

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 SubmittersRCV000490707 RCV001380649 RCV001805108 RCV002464210 RCV004740265 RCV006257296

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 SubmittersRCV000522077 RCV000709831 RCV003470650

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 SubmittersRCV000587658 RCV000674432 RCV001597180 RCV002279370 RCV003459459 RCV005010562

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 SubmittersRCV000595916 RCV005010577 RCV005645111

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 SubmittersRCV000623730 RCV000674297 RCV001046115 RCV001730702 RCV002279446 RCV003465357 RCV005251002

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 SubmittersRCV000622740 RCV003727784 RCV005645118

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 SubmittersRCV000666764 RCV005091931

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 SubmittersRCV000674250 RCV005645151 RCV006463857

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 SubmittersRCV000664832 RCV002530636 RCV005645132

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 SubmittersRCV000667160 RCV001855475 RCV003465465 RCV005407861

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 SubmittersRCV000669273 RCV004568522 RCV005645140

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 SubmittersRCV000665524 RCV003558484 RCV004568494 RCV005645134

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 SubmittersRCV000669326 RCV001300265 RCV001730705 RCV004568525 RCV005010659 RCV006629188

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 SubmittersRCV000671010 RCV001861800 RCV003465505 RCV005010665 RCV005645145

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 SubmittersRCV000666790 RCV003558489 RCV005645135

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 SubmittersRCV000667672 RCV004017715 RCV004586858 RCV005019121 RCV005091934

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 SubmittersRCV000674894 RCV001225796 RCV005407873

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 SubmittersRCV000664567 RCV001377620 RCV003459565 RCV005010646 RCV005407855

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 SubmittersRCV000672920 RCV001597199 RCV005645149

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 SubmittersRCV000664774 RCV002532036 RCV005240419

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 SubmittersRCV000671791 RCV001378583 RCV003465511 RCV004547844 RCV005019143 RCV005645146

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 SubmittersRCV000672795 RCV001071997 RCV003465518 RCV003155277

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 SubmittersRCV000669598 RCV001378584 RCV004586861 RCV005019133

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 SubmittersRCV000673035 RCV000778223 RCV000806323 RCV001252803 RCV002249400 RCV002271560 RCV002531329 RCV005019152

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 SubmittersRCV000668470 RCV005645139

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 SubmittersRCV000668539 RCV001066978 RCV001829847 RCV003472101 RCV004547840 RCV005010656

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 SubmittersRCV000666509 RCV000763304 RCV001036085 RCV001829834 RCV003465452 RCV006277988

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 SubmittersRCV000670035 RCV001236036 RCV003225733 RCV005645141

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 SubmittersRCV000674883 RCV001093407 RCV003226368 RCV004568571

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 SubmittersRCV000665189 RCV000763303 RCV001050932 RCV001275110 RCV002279480 RCV003465439 RCV004026080 RCV004740395

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 SubmittersRCV000665417 RCV001063207 RCV001532998 RCV004568492 RCV005645133

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 SubmittersRCV000674648 RCV003558529 RCV004800532

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 SubmittersRCV000672960 RCV001789781 RCV001855588 RCV003465521 RCV005645150

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 SubmittersRCV000710511 RCV001825412 RCV002279495 RCV002507242

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 SubmittersRCV000722315 RCV003465651 RCV005021121

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 SubmittersRCV000730364 RCV001825460 RCV002493325 RCV003465663

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 SubmittersRCV000761222 RCV002533861 RCV004689876 RCV005021150

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 SubmittersRCV000789000 RCV002510977 RCV002487628 RCV006270234

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 SubmittersRCV000943917 RCV005021283

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 SubmittersRCV000944353 RCV005021284

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 SubmittersRCV001382223 RCV003229004 RCV004553548 RCV004782623 RCV005021310

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 SubmittersRCV001029819 RCV003447575 RCV001248534

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 SubmittersRCV001054292 RCV002497417 RCV005645201

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 SubmittersRCV001063193 RCV003448366 RCV004547968 RCV005021404

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 SubmittersRCV001041986 RCV001827252 RCV004553575

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 SubmittersRCV001048323 RCV003387956 RCV003467753 RCV005021369

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 SubmittersRCV001047689 RCV001844265 RCV002479289 RCV003462538 RCV004553586 RCV004986759 RCV005645198

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 SubmittersRCV001058683 RCV001810492 RCV001732028 RCV003467795 RCV006446011

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 SubmittersRCV001101711 RCV001559152 RCV001559150 RCV001559151 RCV002067773

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 SubmittersRCV001096291 RCV001457430 RCV004547980

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 SubmittersRCV001096292 RCV001494409

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 SubmittersRCV001096293 RCV002554893 RCV002497500 RCV005863353 RCV006633968 RCV003469293

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 SubmittersRCV001098041 RCV002067748

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 SubmittersRCV001098042 RCV001439601

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 SubmittersRCV001099814 RCV001243649 RCV005021442

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 SubmittersRCV001101805 RCV001395014 RCV004547985

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 SubmittersRCV001096385 RCV001461342

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 SubmittersRCV001351723 RCV001822864

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 SubmittersRCV001194282 RCV001205339 RCV003469310 RCV005021487

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 SubmittersRCV001196910 RCV002560228 RCV005021490 RCV005645222

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 SubmittersRCV001195741 RCV001387323 RCV001779133 RCV002560208 RCV005908938

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 SubmittersRCV001213860 RCV004570471 RCV005645226

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 SubmittersRCV001210319 RCV002497720 RCV003462706 RCV005236686

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 SubmittersRCV001207052 RCV003462693 RCV005021503 RCV005645224

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 SubmittersRCV001238820 RCV001257429 RCV001253680 RCV002290655 RCV003235509 RCV006629268

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 SubmittersRCV001243051 RCV001257096 RCV003469463 RCV004740628 RCV004800747 RCV005014299 RCV006443789

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 SubmittersRCV001247327 RCV001830009 RCV002484387 RCV003469476

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 SubmittersRCV001245174 RCV001835229

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 SubmittersRCV001251316 RCV002568714 RCV004584429 RCV003462830 RCV004727050

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 SubmittersRCV001253054 RCV001264416 RCV001389813 RCV004740636 RCV005012697

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 SubmittersRCV001253667 RCV005645237 RCV005057166

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 SubmittersRCV001253015 RCV005094212

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 SubmittersRCV001253034 RCV001879863 RCV004548107 RCV004782688 RCV005014309 RCV006629270

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 SubmittersRCV001253668 RCV001822869 RCV006616457

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 SubmittersRCV001257430 RCV006557272

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 SubmittersRCV001264483 RCV003320818 RCV005014317

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 SubmittersRCV001280814 RCV001871622 RCV005645247

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 SubmittersRCV001835365 RCV001813150

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 SubmittersRCV001306765 RCV001830233 RCV005014380

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 SubmittersRCV001300266 RCV001830171 RCV005012740

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 SubmittersRCV001300488 RCV003447585 RCV005014362

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 SubmittersRCV001319736 RCV005645255

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 SubmittersRCV001332475 RCV001385128 RCV002509664 RCV003469560 RCV003389335 RCV005014441 RCV006629279

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 SubmittersRCV001351724 RCV001825976 RCV003469587

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 SubmittersRCV001338594 RCV005645261

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 SubmittersRCV001366072 RCV004554858 RCV005014495

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 SubmittersRCV001378581 RCV001826142 RCV003469635

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 SubmittersRCV001390683 RCV003447597

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 SubmittersRCV001389815 RCV002493933 RCV003469764 RCV003479323

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 SubmittersRCV001382221 RCV001836391 RCV003388008 RCV004556085 RCV006446126

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 SubmittersRCV001382222 RCV003469672 RCV005645272

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 SubmittersRCV001389868 RCV001449738 RCV003469765 RCV005645275

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 SubmittersRCV001389954 RCV002282538 RCV003473994

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 SubmittersRCV001389955 RCV002286432 RCV003463033 RCV004526122 RCV004796630

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 SubmittersRCV001387054 RCV003771260

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 SubmittersRCV001389956 RCV001831402 RCV003473995 RCV005014548 RCV005232309

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 SubmittersRCV001387322 RCV002551555 RCV003469729 RCV004740679 RCV005645274 RCV005014538

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 SubmittersRCV001388004 RCV003463021

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 SubmittersRCV001385127 RCV003331144 RCV004570954 RCV004740678

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 SubmittersRCV001398541 RCV005014553

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 SubmittersRCV001542259 RCV002032527

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 SubmittersRCV001596859 RCV002271662 RCV003470871

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 SubmittersRCV001596919 RCV003333168 RCV003470872 RCV005014602

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 SubmittersRCV001731123 RCV001861033 RCV002496057 RCV003474016

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 SubmittersRCV001756581 RCV001806253 RCV005645291

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 SubmittersRCV001769013 RCV002488589 RCV003987903

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 SubmittersRCV001785916 RCV003464139 RCV003317526 RCV005014660

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 SubmittersRCV001787438 RCV005645303

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 SubmittersRCV001789735 RCV005645304

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 SubmittersRCV001810539 RCV003772268 RCV005645308

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 SubmittersRCV001813915 RCV003728016 RCV004552033

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 SubmittersRCV001815059 RCV005409022

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 SubmittersRCV001815062 RCV005095236

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 SubmittersRCV001815064 RCV004762189 RCV004774469

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 SubmittersRCV001823791 RCV004552045 RCV002489891 RCV005095289

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 SubmittersRCV002008130 RCV003475266 RCV005645347

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 SubmittersRCV001897390 RCV005016734

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 SubmittersRCV001966113 RCV005645342

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 SubmittersRCV001974856 RCV002507646 RCV005645334

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 SubmittersRCV001990288 RCV005645341

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 SubmittersRCV001999838 RCV002492119 RCV003226510 RCV003471131

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 SubmittersRCV001991149 RCV005645348 RCV005017000

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 SubmittersRCV001884220 RCV003464207 RCV004765360 RCV005016747

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 SubmittersRCV002014284 RCV003448446

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 SubmittersRCV002014391 RCV005645359

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 SubmittersRCV001970877 RCV002497930 RCV004571868

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 SubmittersRCV001972664 RCV003471180 RCV005008303 RCV005645338

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 SubmittersRCV001972665 RCV002276955 RCV003475237 RCV005645339

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 SubmittersRCV001953835 RCV004587273 RCV005016955

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 SubmittersRCV001972666 RCV004571737 RCV003772952 RCV005016956

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 SubmittersRCV001949280 RCV003448440 RCV003471181 RCV004552136

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 SubmittersRCV001973364 RCV002276963 RCV002479619 RCV003464338 RCV005432880

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 SubmittersRCV001966584 RCV003448441

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 SubmittersRCV001999274 RCV005645355

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 SubmittersRCV001999288 RCV003471247 RCV005645356

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 SubmittersRCV003471220 RCV001969277 RCV005645344

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 SubmittersRCV001976034 RCV002497923 RCV003471221 RCV004553602 RCV005645345

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 SubmittersRCV001983794 RCV003447615

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 SubmittersRCV001942167 RCV004554881

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 SubmittersRCV001942171 RCV003447611

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 SubmittersRCV001939650 RCV003401965 RCV002492124 RCV003471161 RCV005253972

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 SubmittersRCV001939652 RCV003471162 RCV004699585 RCV005016944

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 SubmittersRCV002011511 RCV005645357

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 SubmittersRCV002011524 RCV005017072 RCV005645358

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 SubmittersRCV001972846 RCV004765362

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 SubmittersRCV001925196 RCV002555640 RCV003475155 RCV004699541

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 SubmittersRCV001897020 RCV005645320

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 SubmittersRCV001903527 RCV002300620 RCV004571581 RCV005016799

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 SubmittersRCV002001562 RCV002236196 RCV003471236 RCV005008367

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 SubmittersRCV001974645 RCV002271703 RCV004571659

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 SubmittersRCV001974667 RCV002243489 RCV003464266 RCV005016892 RCV005238090

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 SubmittersRCV001963563 RCV003485756 RCV005645340

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 SubmittersRCV002227833 RCV003679078

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 SubmittersRCV002243537 RCV003718453

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 SubmittersRCV002277788 RCV003560918 RCV005645371

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 SubmittersRCV002277811 RCV003096238 RCV005356077 RCV004784046

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 SubmittersRCV002294767 RCV004765370

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 SubmittersRCV002475381 RCV005645397

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 SubmittersRCV002630052 RCV003475519 RCV004741421 RCV005645430

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 SubmittersRCV002630053 RCV003324080 RCV003465995

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 SubmittersRCV002664152 RCV005645431 RCV006307325

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 SubmittersRCV002648132 RCV005645432

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 SubmittersRCV002648133 RCV005645433

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 SubmittersRCV002648134 RCV003388160

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 SubmittersRCV002648135 RCV005645434

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 SubmittersRCV002630054 RCV005645436

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 SubmittersRCV002664154 RCV005645437

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 SubmittersRCV003106570 RCV003447645

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 SubmittersRCV003108467 RCV005645446

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 SubmittersRCV002589298 RCV005008637

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 SubmittersRCV002613170 RCV003447629 RCV005860317

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 SubmittersRCV002578616 RCV003230752 RCV005645401

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 SubmittersRCV002593743 RCV004548329 RCV005419473 RCV005645402

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 SubmittersRCV002609022 RCV003447630 RCV003989774 RCV005239465 RCV005019280

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 SubmittersRCV002622478 RCV004725335 RCV003447632

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 SubmittersRCV002740374 RCV004700815 RCV006249834

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 SubmittersRCV002791125 RCV005645407 RCV004571261

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 SubmittersRCV002791812 RCV005019409

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 SubmittersRCV002838166 RCV003447636 RCV006257367

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 SubmittersRCV002843244 RCV005645411

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 SubmittersRCV002881363 RCV004554889

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 SubmittersRCV002890172 RCV003464631

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 SubmittersRCV003034022 RCV004587409 RCV005608834

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 SubmittersRCV003317752 RCV003561293 RCV004572920

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 SubmittersRCV003323272 RCV003561297

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 SubmittersRCV003332033 RCV005645469

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 SubmittersRCV003388642 RCV005410957

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 SubmittersRCV003412871 RCV005645478

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 SubmittersRCV003447839 RCV006473183

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 SubmittersRCV003447912 RCV004721194

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 SubmittersRCV003448502 RCV003553942

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 SubmittersRCV003448555 RCV003708802

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 SubmittersRCV003448653 RCV003466079

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 SubmittersRCV003448655 RCV003553944 RCV003459864

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 SubmittersRCV003470050 RCV004801350 RCV005645482

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 SubmittersRCV003470075 RCV005645483

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 SubmittersRCV003461845 RCV003689092

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 SubmittersRCV003470102 RCV005645484 RCV006473232

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 SubmittersRCV003476483 RCV003553956 RCV005645485

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 SubmittersRCV003461857 RCV003553957 RCV005645486

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 SubmittersRCV003461858 RCV005021973 RCV006473233

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 SubmittersRCV003470120 RCV003553958 RCV004801351 RCV005645487

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 SubmittersRCV003470123 RCV005645488

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 SubmittersRCV003470190 RCV005645489

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 SubmittersRCV003470203 RCV005645490

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 SubmittersRCV003463221 RCV003553961 RCV004540683 RCV004526261 RCV005012963 RCV005871178

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 SubmittersRCV003448902 RCV003661056

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 SubmittersRCV003562213 RCV005645502

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 SubmittersRCV003562214 RCV005645503

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 SubmittersRCV003562216 RCV005645504

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 SubmittersRCV003562218 RCV005645505

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 SubmittersRCV003562219 RCV005645506

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 SubmittersRCV003562220 RCV005645507

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 SubmittersRCV003562223 RCV005645508

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 SubmittersRCV003562227 RCV005419650

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 SubmittersRCV003567461 RCV004540724 RCV005014802 RCV004526999

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 SubmittersRCV003533801 RCV004690448

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 SubmittersRCV003709343 RCV005052064

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 SubmittersRCV003691668 RCV005645514

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 SubmittersRCV003723537 RCV005645515 RCV004784171

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 SubmittersRCV003716343 RCV005254859

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 SubmittersRCV003713087 RCV005013121

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 SubmittersRCV003737088 RCV005645768

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 SubmittersRCV003859717 RCV004765385

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 SubmittersRCV004586481 RCV004690511 RCV005015203

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 SubmittersRCV004789984 RCV005017281

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 SubmittersRCV004812199 RCV005647412

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 SubmittersRCV005007737 RCV005112630 RCV005645826

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 SubmittersRCV005022230 RCV006565784

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 SubmittersRCV005022308 RCV005645824

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 SubmittersRCV005007711 RCV005645825

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 SubmittersRCV005007491 RCV005645823 RCV006270654

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 SubmittersRCV005007546 RCV006269983 RCV006489102

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 SubmittersRCV005000802 RCV005645821

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 SubmittersRCV005052133 RCV005105382

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 SubmittersRCV005087577 RCV005645830

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 SubmittersRCV005113083 RCV005645831

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 SubmittersRCV005154396 RCV005645835 RCV006631297

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 SubmittersRCV005156247 RCV005645838

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 SubmittersRCV005180612 RCV005645840

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 SubmittersRCV005193398 RCV005417509

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 SubmittersRCV005197978 RCV005645845

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 SubmittersRCV005197979 RCV005241130

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 SubmittersRCV005197983 RCV005645846

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 SubmittersRCV005197984 RCV005645847

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 SubmittersRCV005197986 RCV005645848

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 SubmittersRCV005187054 RCV005645843 RCV006270672

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 SubmittersRCV005233351 RCV005645855

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 SubmittersRCV005241182 RCV005645858

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 SubmittersRCV005646628 RCV006484925

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 SubmittersRCV005646683 RCV006457503

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 SubmittersRCV005646703 RCV006613620

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 SubmittersRCV005646737 RCV006613621

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