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/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256919	rs_121918000	10 SubmittersRCV000014648 RCV001093406 RCV001582482 RCV002496361 RCV003466856
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	SNV Germline	Chr1:21561126	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256920	rs_121918001	6 SubmittersRCV000014649 RCV001851857 RCV003466857 RCV004700234 RCV004739304
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	SNV Germline	Chr1:21573683	Pathogenic	Condition: not provided Hypophosphatasia Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Osteogenesis imperfecta Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256921	rs_121918002	15 SubmittersRCV000224505 RCV000589324 RCV000014650 RCV000014651 RCV000014652 RCV002276545 RCV002496362 RCV004549362
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)	SNV Germline	Chr1:21561127	Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256922	rs_121918003	4 SubmittersRCV000014653 RCV001362179 RCV003460473 RCV003486545
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)	SNV Germline	Chr1:21564188	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA256923	rs_121918004	5 SubmittersRCV000014654 RCV000224906 RCV003230364
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	SNV Germline	Chr1:21560662	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Hypophosphatasia Condition: not provided Childhood hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256924	rs_121918005	5 SubmittersRCV000014655 RCV001273156 RCV001042961 RCV001333468 RCV003473099
NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)	SNV Germline	Chr1:21576638	Pathogenic	Infantile hypophosphatasia	No Assertion Criteria Provided	CA256925	rs_121918006	1 SubmittersRCV000014656
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	SNV Germline	Chr1:21573694	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Adult hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256926	rs_121918017	8 SubmittersRCV000014657 RCV001549327 RCV001582483 RCV002504785 RCV003460474 RCV004549363
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 Osteogenesis imperfecta Inborn genetic diseases See cases ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256927	rs_121918007	36 SubmittersRCV000014658 RCV000014659 RCV000014660 RCV000207183 RCV000224962 RCV000763300 RCV001250150 RCV002276546 RCV002513051 RCV004584327 RCV004739305
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	15 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	15 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 Hypophosphatasia Adult hypophosphatasia Condition: not provided Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256930	rs_121918010	16 SubmittersRCV000014664 RCV000207096 RCV000380876 RCV000724148 RCV002504786 RCV004549366
NM_000478.6(ALPL):c.407G>A (p.Arg136His)	SNV Germline	Chr1:21563219	Pathogenic/Likely pathogenic	Childhood hypophosphatasia Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Hypophosphatasia Osteogenesis imperfecta Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256932	rs_121918011	21 SubmittersRCV000014666 RCV000169168 RCV000767525 RCV000770988 RCV000364426 RCV002276548 RCV002490366 RCV004798728
NM_000478.6(ALPL):c.485G>T (p.Gly162Val)	SNV Germline	Chr1:21564053	Conflicting classifications of pathogenicity	Childhood hypophosphatasia Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications	CA256933	rs_121918012	3 SubmittersRCV000014667 RCV000670940 RCV001239346
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	SNV Germline	Chr1:21563158	Pathogenic/Likely pathogenic	Childhood hypophosphatasia Adult hypophosphatasia Odontohypophosphatasia Condition: not provided Infantile hypophosphatasia Hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123348	rs_121918013	11 SubmittersRCV000014668 RCV000014669 RCV000014670 RCV000224118 RCV000169426 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	Criteria Provided Multiple Submitters No Conflicts	CA212949	rs_749544042	10 SubmittersRCV000014671 RCV000710058 RCV001227927 RCV001553715 RCV003466858 RCV004549368
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	Criteria Provided Multiple Submitters No Conflicts	CA199266	rs_121918014	16 SubmittersRCV000014672 RCV000169778 RCV000710510 RCV001194283 RCV001253058 RCV004719646 RCV004739306
NM_000478.6(ALPL):c.323C>T (p.Pro108Leu)	SNV Germline	Chr1:21563135	Pathogenic	Odontohypophosphatasia	No Assertion Criteria Provided	CA123349	rs_121918015	1 SubmittersRCV000014673
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)	SNV Germline	Chr1:21577439	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA256934	rs_121918016	4 SubmittersRCV000014674 RCV003448247 RCV001387538 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	12 SubmittersRCV000014675 RCV000014676 RCV000723607 RCV000668001 RCV001826462 RCV003466859 RCV003335039
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	SNV Germline	Chr1:21564094	Pathogenic/Likely pathogenic	Condition: not provided Infantile hypophosphatasia Childhood hypophosphatasia Hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Adult hypophosphatasia ALPL-related disorder Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA256935	rs_121918019	18 SubmittersRCV000808101 RCV000014677 RCV000014678 RCV001275108 RCV000763299 RCV002288490 RCV004549369 RCV002276549
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	SNV Germline	Chr1:21570326	Pathogenic	Infantile hypophosphatasia Childhood hypophosphatasia Condition: not provided Hypophosphatasia Adult hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256936	rs_121918020	7 SubmittersRCV000014679 RCV000169779 RCV000817506 RCV001804731 RCV003473100 RCV004549370
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	Criteria Provided Multiple Submitters No Conflicts	CA274142	rs_781264043	4 SubmittersRCV000169295 RCV001204937 RCV003474904 RCV004552944
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	12 SubmittersRCV000169128 RCV000729215 RCV001196302 RCV002265652 RCV002505222 RCV002516529 RCV003462265
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	SNV Germline	Chr1:21568122	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA274235	rs_766076920	6 SubmittersRCV000169383 RCV001208323 RCV003468842 RCV001831990
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	5 SubmittersRCV000169064 RCV001264499 RCV001378582 RCV002498840 RCV003462263
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)	SNV Germline	Chr1:21570321	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274277	rs_786204634	6 SubmittersRCV000169412 RCV001582665 RCV003468843 RCV002515199
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)	SNV Germline	Chr1:21573673	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273965	rs_786204473	3 SubmittersRCV000169122 RCV002515193
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)	SNV Germline	Chr1:21573693	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA274381	rs_755529290	5 SubmittersRCV001850403 RCV003468845 RCV004586588 RCV000169514
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	3 SubmittersRCV000178776 RCV001835709
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)	SNV Germline	Chr1:21563248	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA245947	rs_138587317	8 SubmittersRCV000178777 RCV001096294 RCV001553716 RCV002515269
NM_000478.6(ALPL):c.673T>C (p.Tyr225His)	SNV Germline	Chr1:21568128	Conflicting classifications of pathogenicity	Condition: not provided Adult hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia	Criteria Provided Conflicting Classifications	CA666578	rs_759125473	4 SubmittersRCV000393235 RCV002509350 RCV002494864
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)	SNV Germline	Chr1:21573722	Pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA666680	rs_768555495	4 SubmittersRCV000322603 RCV002509351 RCV003463768
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	11 SubmittersRCV000263557 RCV000710516 RCV001820834 RCV002519300 RCV004549605
NM_000478.6(ALPL):c.612C>T (p.Ile204=)	SNV Germline	Chr1:21564180	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia not specified	Criteria Provided Conflicting Classifications	CA666538	rs_141448778	8 SubmittersRCV000398912 RCV001098040 RCV001660555
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)	SNV Germline	Chr1:21575737	Conflicting classifications of pathogenicity	Hypophosphatasia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA666719	rs_370122334	6 SubmittersRCV000388202 RCV000726419 RCV003488505
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)	SNV Germline	Chr1:21563225	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia not specified ALPL-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA666480	rs_140167865	7 SubmittersRCV000941105 RCV000404402 RCV000502406 RCV004739667 RCV004021421
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.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	Criteria Provided Single Submitter	CA666363	rs_764322898	2 SubmittersRCV000409382 RCV004549832
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)	SNV Germline	Chr1:21560652	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA16040712	rs_1057516334	3 SubmittersRCV000410316 RCV001050992 RCV002502420
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)	SNV Germline	Chr1:21560694	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA16040714	rs_1057516293	3 SubmittersRCV000408970 RCV001389814 RCV001175579
NM_000478.6(ALPL):c.297+2T>A	SNV Unknown	Chr1:21561214	Likely pathogenic	Infantile hypophosphatasia	Criteria Provided Single Submitter	CA16040715	rs_1057517304	1 SubmittersRCV000411240
NM_000478.6(ALPL):c.997+2T>G	SNV Germline	Chr1:21573801	Pathogenic	Infantile hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16040720	rs_1057517391	2 SubmittersRCV000410728 RCV001214322
NM_000478.6(ALPL):c.998-2A>G	SNV Germline	Chr1:21575731	Likely pathogenic	Infantile hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	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	Criteria Provided Multiple Submitters No Conflicts	CA666741	rs_771540767	3 SubmittersRCV000411905 RCV001861389 RCV004796165
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	Criteria Provided Multiple Submitters No Conflicts	CA666834	rs_149889416	7 SubmittersRCV000411942 RCV000778967 RCV001045527 RCV001580493 RCV003470350
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter)	SNV Unknown	Chr1:21577499	Likely pathogenic	Infantile hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA16040723	rs_1057517173	2 SubmittersRCV000410612 RCV004567887
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	SNV Germline	Chr1:21568123	Pathogenic	Condition: not provided Infantile hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA666577	rs_199665722	7 SubmittersRCV000428517 RCV000984145 RCV002480299 RCV003470381 RCV001833531
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)	SNV Germline	Chr1:21561142	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA16603529	rs_1057521085	4 SubmittersRCV000418683 RCV002278676 RCV004567908
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)	SNV Germline	Chr1:21575739	Pathogenic/Likely pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA16603569	rs_1057524727	4 SubmittersRCV000733233 RCV003482143
NM_000478.6(ALPL):c.283G>A (p.Val95Met)	SNV Germline	Chr1:21561198	Conflicting classifications of pathogenicity	Low alkaline phosphatase Condition: not provided Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Hypophosphatasia Adult hypophosphatasia Infantile hypophosphatasia Osteogenesis imperfecta	Criteria Provided Conflicting Classifications	CA666442	rs_139811782	8 SubmittersRCV000490714 RCV001067182 RCV001535923 RCV001580504 RCV001273158 RCV003470594 RCV004568606 RCV002279265
NM_000478.6(ALPL):c.530C>T (p.Ala177Val)	SNV Germline	Chr1:21564098	Conflicting classifications of pathogenicity	Low alkaline phosphatase Condition: not provided not specified Adult hypophosphatasia	Criteria Provided Conflicting Classifications	CA338877907	rs_1114167438	4 SubmittersRCV000490737 RCV001851327 RCV003387860 RCV003470595
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	SNV Germline	Chr1:21577476	Pathogenic/Likely pathogenic	Low alkaline phosphatase Adult hypophosphatasia ALPL-related disorder Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA666842	rs_766656419	9 SubmittersRCV000490707 RCV002464210 RCV004740265 RCV001380649 RCV001805108
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)	SNV Germline	Chr1:21563152	Pathogenic/Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts	CA338877136	rs_1320839573	5 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	Criteria Provided Multiple Submitters No Conflicts	CA666626	rs_781272386	7 SubmittersRCV000587658 RCV000674432 RCV001597180 RCV002279370 RCV003459459
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	SNV Germline	Chr1:21564118	Pathogenic/Likely pathogenic	Inborn genetic diseases Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Hypophosphatasia Osteogenesis imperfecta	Criteria Provided Multiple Submitters No Conflicts	CA666527	rs_763159520	12 SubmittersRCV000623730 RCV000674297 RCV001046115 RCV003465357 RCV001730702 RCV002279446
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)	SNV Unknown	Chr1:21560651	Likely pathogenic	Infantile hypophosphatasia	Criteria Provided Single Submitter		rs_1553411779	1 SubmittersRCV000666764
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys)	SNV Germline	Chr1:21561177	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_1045735640	3 SubmittersRCV000664832 RCV002530636 RCV004702274
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)	SNV Germline	Chr1:21563234	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_916300043	3 SubmittersRCV000667160 RCV001855475 RCV003465465
NM_000478.6(ALPL):c.862+1G>A	SNV Unknown	Chr1:21570375	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1553413512	2 SubmittersRCV000669273 RCV004568522
NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)	SNV Germline	Chr1:21575774	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1553414560	3 SubmittersRCV000665524 RCV003558484 RCV004568494
NM_000478.6(ALPL):c.318G>C (p.Gln106His)	SNV Germline	Chr1:21563130	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1553412268	4 SubmittersRCV000669326 RCV001300265 RCV001730705 RCV004568525
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)	SNV Germline	Chr1:21563180	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided not specified Adult hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1188506084	4 SubmittersRCV000671010 RCV001861800 RCV002265848 RCV003465505
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)	SNV Germline	Chr1:21563219	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_121918011	2 SubmittersRCV000666790 RCV003558489
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro)	SNV Germline	Chr1:21577406	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1553415041	3 SubmittersRCV000667672 RCV004017715 RCV004586858
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu)	SNV Germline	Chr1:21577448	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1054159992	2 SubmittersRCV000674894 RCV001225796
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)	SNV Germline	Chr1:21563146	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1384701659	4 SubmittersRCV000664567 RCV001377620 RCV003459565
NM_000478.6(ALPL):c.629A>G (p.His210Arg)	SNV Germline	Chr1:21564197	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_748031071	3 SubmittersRCV000672920 RCV001597199
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu)	SNV Germline	Chr1:21568125	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1226800998	2 SubmittersRCV000664774 RCV002532036
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)	SNV Germline	Chr1:21575777	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided not specified Adult hypophosphatasia ALPL-related disorder	Criteria Provided Conflicting Classifications		rs_1553414563	5 SubmittersRCV000671791 RCV001378583 RCV002265850 RCV003465511 RCV004547844
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		rs_1553414611	5 SubmittersRCV000672795 RCV001071997 RCV003465518 RCV003155277
NM_000478.6(ALPL):c.649-11G>C	SNV Germline	Chr1:21568093	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_376565308	2 SubmittersRCV000664887 RCV002060807
NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter)	SNV Unknown	Chr1:21577397	Likely pathogenic	Infantile hypophosphatasia	Criteria Provided Single Submitter		rs_1553415035	1 SubmittersRCV000667090
NM_000478.6(ALPL):c.1375G>A (p.Val459Met)	SNV Germline	Chr1:21577448	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided Hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1054159992	3 SubmittersRCV000669598 RCV001378584 RCV004586861
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	Criteria Provided Conflicting Classifications		rs_199669988	8 SubmittersRCV000673035 RCV000778223 RCV000806323 RCV001252803 RCV002249400 RCV002271560 RCV002531329
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)	SNV Germline	Chr1:21575745	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided Hypophosphatasia Adult hypophosphatasia ALPL-related disorder	Criteria Provided Conflicting Classifications		rs_1219494274	7 SubmittersRCV000668539 RCV001066978 RCV001829847 RCV003472101 RCV004547840
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	SNV Germline	Chr1:21577544	Pathogenic/Likely pathogenic	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1413274209	8 SubmittersRCV000666509 RCV001036085 RCV000763304 RCV001829834 RCV003465452
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)	SNV Germline	Chr1:21568113	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Conflicting Classifications		rs_747488546	4 SubmittersRCV000670035 RCV001236036 RCV003225733
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		rs_769020799	5 SubmittersRCV000674883 RCV001093407 RCV003226368 RCV004568571
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	SNV Germline	Chr1:21575906	Pathogenic/Likely 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		rs_371243939	10 SubmittersRCV000665189 RCV000763303 RCV001050932 RCV001275110 RCV002279480 RCV003465439 RCV004026080 RCV004740395
NM_000478.6(ALPL):c.1172G>A (p.Arg391His)	SNV Germline	Chr1:21575907	Pathogenic	Childhood hypophosphatasia Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1442918125	6 SubmittersRCV001532998 RCV000665417 RCV001063207 RCV004568492
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys)	SNV Germline	Chr1:21576617	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1553414868	3 SubmittersRCV000674648 RCV004800532 RCV003558529
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)	SNV Germline	Chr1:21577533	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Childhood hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1229517379	4 SubmittersRCV000672960 RCV001789781 RCV001855588 RCV003465521
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		rs_550358395	6 SubmittersRCV000710511 RCV001825412 RCV002279495 RCV002507242
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)	SNV Germline	Chr1:21573796	Pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_768976020	3 SubmittersRCV000722315 RCV003465651
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	SNV Germline	Chr1:21563207	Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1558548925	6 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	Criteria Provided Multiple Submitters No Conflicts		rs_1558557428	3 SubmittersRCV000761222 RCV002533861 RCV004689876
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)	SNV Germline	Chr1:21564166	Likely pathogenic	Infantile hypophosphatasia	No Assertion Criteria Provided		rs_1570276921	1 SubmittersRCV000786924
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)	SNV Germline	Chr1:21563111	Pathogenic/Likely pathogenic	not specified Adult hypophosphatasia Condition: not provided Hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1201942473	8 SubmittersRCV001002604 RCV003229004 RCV001382223 RCV004782623 RCV004553548
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)	SNV Germline	Chr1:21563143	Pathogenic/Likely pathogenic	Adult hypophosphatasia Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_773257111	6 SubmittersRCV001029819 RCV001248534 RCV003447575
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)	SNV Germline	Chr1:21575769	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia ALPL-related disorder	Criteria Provided Conflicting Classifications		rs_1644719715	4 SubmittersRCV001063193 RCV003448366 RCV004547968
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)	SNV Germline	Chr1:21577490	Pathogenic/Likely pathogenic	Adult hypophosphatasia Hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1644755212	5 SubmittersRCV003467753 RCV003387956 RCV001048323
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 ALPL-related disorder Adult hypophosphatasia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1057517173	6 SubmittersRCV001047689 RCV001844265 RCV002479289 RCV004553586 RCV003462538 RCV004986759
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	Criteria Provided Multiple Submitters No Conflicts		rs_1292415045	5 SubmittersRCV001058683 RCV001810492 RCV001732028 RCV003467795
NM_000478.6(ALPL):c.109C>T (p.Leu37=)	SNV Germline	Chr1:21560673	Conflicting classifications of pathogenicity	Hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1205971311	3 SubmittersRCV001101711 RCV001559150 RCV001559151 RCV001559152 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		rs_1015578994	4 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		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 Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1374504617	4 SubmittersRCV001096293 RCV002554893 RCV003469293 RCV002497500
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		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		rs_372247799	2 SubmittersRCV001098042 RCV001439601
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		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		rs_376020180	3 SubmittersRCV001096385 RCV001461342
NM_000478.6(ALPL):c.178G>C (p.Asp60His)	SNV Germline	Chr1:21560742	Conflicting classifications of pathogenicity	not specified Hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1644472852	4 SubmittersRCV001192372 RCV001822864 RCV001351723
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter)	SNV Germline	Chr1:21576614	Pathogenic	Hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_759017288	3 SubmittersRCV001194282 RCV001205339 RCV003469310
NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)	SNV Unknown	Chr1:21564139	Pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter		rs_121918007	1 SubmittersRCV001198044
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr)	SNV Germline	Chr1:21577473	Conflicting classifications of pathogenicity	Adult hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_763073466	2 SubmittersRCV001196910 RCV002560228
NM_000478.6(ALPL):c.997+2T>A	SNV Germline	Chr1:21573801	Pathogenic/Likely pathogenic	Adult hypophosphatasia Condition: not provided Hypophosphatasia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1057517391	6 SubmittersRCV001195741 RCV001387323 RCV001779133 RCV002560208
NM_000478.6(ALPL):c.824T>C (p.Leu275Pro)	SNV Germline	Chr1:21570336	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1237252052	2 SubmittersRCV001213860 RCV004570471
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met)	SNV Germline	Chr1:21575812	Pathogenic/Likely pathogenic	Condition: not provided Infantile hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_567349821	3 SubmittersRCV001210319 RCV002497720 RCV003462706
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His)	SNV Germline	Chr1:21575897	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1644722881	2 SubmittersRCV001207052 RCV003462693
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)	SNV Germline	Chr1:21563218	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Infantile hypophosphatasia Childhood hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_747762186	5 SubmittersRCV001238820 RCV001253680 RCV001257429 RCV002290655 RCV003235509
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)	SNV Germline	Chr1:21564143	Pathogenic/Likely pathogenic	Condition: not provided Infantile hypophosphatasia Adult hypophosphatasia Hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_765011829	7 SubmittersRCV001243051 RCV001257096 RCV003469463 RCV004800747 RCV004740628
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)	SNV Germline	Chr1:21577421	Pathogenic/Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_138690664	4 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 not specified	Criteria Provided Conflicting Classifications		rs_761079751	4 SubmittersRCV001245174 RCV001835229 RCV002282498
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)	SNV Germline	Chr1:21560658	Pathogenic/Likely pathogenic	Hypophosphatasia Condition: not provided Adult hypophosphatasia See cases ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1209147330	5 SubmittersRCV001251316 RCV002568714 RCV003462830 RCV004584429 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	Criteria Provided Multiple Submitters No Conflicts		rs_770093969	6 SubmittersRCV001253054 RCV001264416 RCV001389813 RCV004740636
NM_000478.6(ALPL):c.500C>A (p.Thr167Lys)	SNV Germline	Chr1:21564068	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter		rs_1408325840	1 SubmittersRCV001253015
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	SNV Germline	Chr1:21564068	Pathogenic/Likely pathogenic	Adult hypophosphatasia Condition: not provided Hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1408325840	6 SubmittersRCV001253034 RCV001879863 RCV004782688 RCV004548107
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg)	SNV Germline	Chr1:21577404	Conflicting classifications of pathogenicity	Adult hypophosphatasia Hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1644752699	2 SubmittersRCV001253668 RCV001822869
NM_000478.6(ALPL):c.1190-2A>T	SNV Germline	Chr1:21576520	Pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter		rs_1644739549	1 SubmittersRCV001253274
NM_000478.6(ALPL):c.617A>G (p.Tyr206Cys)	SNV Germline	Chr1:21564185	Likely pathogenic	Infantile hypophosphatasia	No Assertion Criteria Provided		rs_780790767	1 SubmittersRCV001257430
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)	SNV Germline	Chr1:21568193	Pathogenic/Likely pathogenic	Hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1223142821	5 SubmittersRCV001264483 RCV003320818
NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro)	SNV Germline	Chr1:21576615	Pathogenic	Adult hypophosphatasia Condition: not provided	Criteria Provided Single Submitter		rs_1644741201	2 SubmittersRCV001280814 RCV001871622
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)	SNV Germline	Chr1:21563269	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia	Criteria Provided Conflicting Classifications		rs_1644512630	3 SubmittersRCV001813150 RCV001835365
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser)	SNV Germline	Chr1:21568200	Likely pathogenic	Hypophosphatasia Condition: not provided	Criteria Provided Single Submitter		rs_770539523	2 SubmittersRCV001830233 RCV001306765
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)	SNV Germline	Chr1:21575757	Pathogenic/Likely pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1382219911	3 SubmittersRCV001300266 RCV001830171
NM_000478.6(ALPL):c.1415A>G (p.His472Arg)	SNV Germline	Chr1:21577488	Likely pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1644755133	2 SubmittersRCV001300488 RCV003447585
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	SNV Germline	Chr1:21577401	Pathogenic/Likely pathogenic	Childhood hypophosphatasia Condition: not provided Adult hypophosphatasia Hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_768053120	6 SubmittersRCV001332475 RCV001385128 RCV003469560 RCV002509664 RCV003389335
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		rs_772432010	3 SubmittersRCV001351724 RCV001825976 RCV003469587
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser)	SNV Germline	Chr1:21563183	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia	Criteria Provided Conflicting Classifications		rs_11586344	3 SubmittersRCV001366072 RCV004554858
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp)	SNV Germline	Chr1:21564076	Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_2148161378	3 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		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 Hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1644478533	5 SubmittersRCV001389815 RCV003469764 RCV003479323 RCV002493933
NM_000478.6(ALPL):c.212G>A (p.Arg71His)	SNV Germline	Chr1:21561127	Pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_121918003	6 SubmittersRCV001382221 RCV001836391 RCV003388008 RCV004556085
NM_000478.6(ALPL):c.223G>A (p.Gly75Ser)	SNV Germline	Chr1:21561138	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1304394441	2 SubmittersRCV001382222 RCV003469672
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)	SNV Germline	Chr1:21563115	Pathogenic/Likely pathogenic	Condition: not provided Infantile hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_746273959	3 SubmittersRCV001389868 RCV001449738 RCV003469765
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)	SNV Germline	Chr1:21564052	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_760029254	4 SubmittersRCV001389954 RCV003473994 RCV002282538
NM_000478.6(ALPL):c.532T>C (p.Tyr178His)	SNV Germline	Chr1:21564100	Pathogenic/Likely pathogenic	Condition: not provided Micromelia Adult hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1215600806	5 SubmittersRCV001389955 RCV002286432 RCV003463033 RCV004796630 RCV004526122
NM_000478.6(ALPL):c.558G>A (p.Trp186Ter)	SNV Germline	Chr1:21564126	Pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_2148161624	2 SubmittersRCV001387054 RCV003771260
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)	SNV Germline	Chr1:21568114	Pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1644592603	4 SubmittersRCV001389956 RCV001831402 RCV003473995
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	Criteria Provided Multiple Submitters No Conflicts		rs_1644687066	5 SubmittersRCV001387322 RCV002551555 RCV003469729 RCV004740679
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		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		rs_2148192444	5 SubmittersRCV001385127 RCV003331144 RCV004570954 RCV004740678
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		rs_148357203	3 SubmittersRCV001542259 RCV002032527
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)	SNV Germline	Chr1:21575901	Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_746390776	5 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	Criteria Provided Multiple Submitters No Conflicts		rs_776117933	4 SubmittersRCV001596919 RCV003333168 RCV003470872
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)	SNV Germline	Chr1:21577500	Pathogenic/Likely pathogenic	Hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_2148195004	5 SubmittersRCV001731123 RCV002496057 RCV001861033 RCV003474016
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)	SNV Germline	Chr1:21568201	Conflicting classifications of pathogenicity	Condition: not provided Childhood hypophosphatasia Infantile hypophosphatasia Adult hypophosphatasia not specified	Criteria Provided Conflicting Classifications		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 Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_765458125	4 SubmittersRCV001785916 RCV003317526 RCV003464139
NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys)	SNV Germline	Chr1:21577552	Pathogenic	Childhood hypophosphatasia	Criteria Provided Single Submitter		rs_759758484	1 SubmittersRCV001789735
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	Criteria Provided Conflicting Classifications		rs_1644529037	2 SubmittersRCV001810539 RCV003772268
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		rs_747167000	3 SubmittersRCV001813915 RCV003728016 RCV004552033
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro)	SNV Germline	Chr1:21554122	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_2148135377	1 SubmittersRCV001815056
NM_000478.6(ALPL):c.140A>T (p.Asn47Ile)	SNV Germline	Chr1:21560704	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_2148151094	1 SubmittersRCV001815059
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr)	SNV Germline	Chr1:21561109	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_1644478359	1 SubmittersRCV001815061
NM_000478.6(ALPL):c.361G>A (p.Val121Met)	SNV Germline	Chr1:21563173	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_1476072388	1 SubmittersRCV001815062
NM_000478.6(ALPL):c.601T>C (p.Cys201Arg)	SNV Germline	Chr1:21564169	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		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		rs_2148152364	4 SubmittersRCV001815064 RCV004762189 RCV004774469
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile)	SNV Germline	Chr1:21560710	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_868522953	1 SubmittersRCV001818095
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)	SNV Germline	Chr1:21561162	Pathogenic/Likely pathogenic	Hypophosphatasia Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2148152544	3 SubmittersRCV001823791 RCV002489891 RCV004552045
NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp)	SNV Germline	Chr1:21576575	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_2148192455	1 SubmittersRCV001848631
NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp)	SNV Germline	Chr1:21577491	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		rs_2148194946	1 SubmittersRCV001848632
NM_000478.6(ALPL):c.352C>A (p.Leu118Met)	SNV Germline	Chr1:21563164	Likely pathogenic	Adult hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1284058976	2 SubmittersRCV003475266 RCV002008130
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln)	SNV Germline	Chr1:21564119	Pathogenic	Condition: not provided Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1558549798	2 SubmittersRCV001974856 RCV002507646
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 Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_772682471	4 SubmittersRCV001999838 RCV002492119 RCV003471131 RCV003226510
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)	SNV Germline	Chr1:21563271	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Infantile hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_761836226	4 SubmittersRCV001884220 RCV003464207 RCV004765360
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		rs_1644753808	2 SubmittersRCV002014284 RCV003448446
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		rs_2148171286	3 SubmittersRCV001970877 RCV002497930 RCV004571868
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu)	SNV Germline	Chr1:21570327	Pathogenic	Adult hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_781272386	2 SubmittersRCV003471180 RCV001972664
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)	SNV Germline	Chr1:21573782	Pathogenic/Likely pathogenic	Condition: not provided Osteogenesis imperfecta Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_779832611	4 SubmittersRCV001972665 RCV002276955 RCV003475237
NM_000478.6(ALPL):c.1231A>G (p.Thr411Ala)	SNV Germline	Chr1:21576563	Pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_2148192403	2 SubmittersRCV001953835 RCV004587273
NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)	SNV Germline	Chr1:21577475	Pathogenic/Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1196976671	3 SubmittersRCV001972666 RCV003772952 RCV004571737
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)	SNV Germline	Chr1:21577517	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia Adult hypophosphatasia not specified ALPL-related disorder	Criteria Provided Conflicting Classifications		rs_780857373	5 SubmittersRCV001949280 RCV003448440 RCV003471181 RCV003155449 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	Criteria Provided Conflicting Classifications		rs_200621180	5 SubmittersRCV001973364 RCV002276963 RCV002479619 RCV003464338
NM_000478.6(ALPL):c.967A>G (p.Asn323Asp)	SNV Germline	Chr1:21573769	Likely pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_2148184736	2 SubmittersRCV001966584 RCV003448441
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala)	SNV Germline	Chr1:21576600	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_2148192552	2 SubmittersRCV001999288 RCV003471247
NM_000478.6(ALPL):c.997+3A>C	SNV Germline	Chr1:21573802	Likely pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1553414147	2 SubmittersRCV001969277 RCV003471220
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	Criteria Provided Multiple Submitters No Conflicts		rs_756418235	5 SubmittersRCV001976034 RCV002497923 RCV003471221 RCV004553602
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		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		rs_1644529717	2 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		rs_2148189619	2 SubmittersRCV001942171 RCV003447611
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)	SNV Germline	Chr1:21575855	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Childhood hypophosphatasia Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_552831415	5 SubmittersRCV001939650 RCV002492124 RCV003401965 RCV003471161
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser)	SNV Germline	Chr1:21576608	Pathogenic	Condition: not provided Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_770548228	3 SubmittersRCV001939652 RCV003471162 RCV004699585
NM_000478.6(ALPL):c.1023T>A (p.His341Gln)	SNV Germline	Chr1:21575758	Pathogenic	Condition: not provided Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1280398041	2 SubmittersRCV001972846 RCV004765362
NM_000478.6(ALPL):c.884T>C (p.Met295Thr)	SNV Germline	Chr1:21573686	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia Adult hypophosphatasia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1220125702	4 SubmittersRCV001925196 RCV004699541 RCV003475155 RCV002555640
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)	SNV Germline	Chr1:21577427	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_966212736	3 SubmittersRCV001903527 RCV004571581 RCV002300620
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)	SNV Germline	Chr1:21563206	Likely pathogenic	Condition: not provided Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_757771793	3 SubmittersRCV002001562 RCV002236196 RCV003471236
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		rs_2148184404	3 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	Criteria Provided Multiple Submitters No Conflicts		rs_763457259	3 SubmittersRCV001974667 RCV002243489 RCV003464266
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp)	SNV Germline	Chr1:21577437	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts		rs_1289406215	3 SubmittersRCV001963563 RCV003485756
NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys)	SNV Germline	Chr1:21563114	Conflicting classifications of pathogenicity	Hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_2148158064	2 SubmittersRCV002227833 RCV003679078
NM_000478.6(ALPL):c.705G>T (p.Glu235Asp)	SNV Germline	Chr1:21568160	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter		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		rs_1416572796	2 SubmittersRCV002243537 RCV003718453
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			2 SubmittersRCV002294767 RCV004765370
NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter)	SNV Unknown	Chr1:21575786	Likely pathogenic	Adult hypophosphatasia Infantile hypophosphatasia Childhood hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV002308067
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)	SNV Germline	Chr1:21560674	Likely pathogenic	Condition: not provided Adult hypophosphatasia ALPL-related disorder	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002630052 RCV003475519 RCV004741421
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			4 SubmittersRCV002630053 RCV003324080 RCV003465995
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			2 SubmittersRCV002648134 RCV003388160
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			2 SubmittersRCV003106570 RCV003447645
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)	SNV Germline	Chr1:21576615	Pathogenic/Likely pathogenic	Hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003447629 RCV002613170
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	SNV Germline	Chr1:21564181	Conflicting classifications of pathogenicity	Condition: not provided Adult hypophosphatasia Hypophosphatasia	Criteria Provided Conflicting Classifications			4 SubmittersRCV002609022 RCV003989774 RCV003447630
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)	SNV Germline	Chr1:21575735	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia not specified ALPL-related disorder	Criteria Provided Conflicting Classifications			4 SubmittersRCV002622478 RCV003447632 RCV004700795 RCV004725335
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)	SNV Germline	Chr1:21570367	Pathogenic	Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002791125 RCV004571261
NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)	SNV Germline	Chr1:21561210	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia	Criteria Provided Conflicting Classifications			2 SubmittersRCV002838166 RCV003447636
NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)	SNV Germline	Chr1:21575753	Conflicting classifications of pathogenicity	Condition: not provided Hypophosphatasia	Criteria Provided Conflicting Classifications			2 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			2 SubmittersRCV002890172 RCV003464631
NM_000478.6(ALPL):c.386G>A (p.Gly129Glu)	SNV Germline	Chr1:21563198	Likely pathogenic	Childhood hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003142389
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)	SNV Germline	Chr1:21560716	Likely pathogenic	Hypophosphatasia Condition: not provided Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003317752 RCV003561293 RCV004572920
NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)	SNV Germline	Chr1:21554110	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 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			3 SubmittersRCV003323272 RCV003561297
NM_000478.6(ALPL):c.952C>T (p.Gln318Ter)	SNV Unknown	Chr1:21573754	Likely pathogenic	Infantile hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003388642
NM_000478.6(ALPL):c.1161A>G (p.Gly387=)	SNV Germline	Chr1:21575896	Likely pathogenic	Infantile hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004555665
NM_000478.6(ALPL):c.244G>A (p.Gly82Arg)	SNV Germline	Chr1:21561159	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003447660
NM_000478.6(ALPL):c.244G>C (p.Gly82Arg)	SNV Germline	Chr1:21561159	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003447838
NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys)	SNV Germline	Chr1:21577509	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003447839
NM_000478.6(ALPL):c.527C>T (p.Ala176Val)	SNV Germline	Chr1:21564095	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003447840
NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly)	SNV Germline	Chr1:21577401	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003447851
NM_000478.6(ALPL):c.1247G>T (p.Gly416Val)	SNV Germline	Chr1:21576579	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 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			2 SubmittersRCV003447912 RCV004721194
NM_000478.6(ALPL):c.1157G>A (p.Gly386Asp)	SNV Germline	Chr1:21575892	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 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			3 SubmittersRCV003448502 RCV003553942
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)	SNV Germline	Chr1:21560740	Likely pathogenic	Hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003448555 RCV003708802
NM_000478.6(ALPL):c.511C>G (p.His171Asp)	SNV Germline	Chr1:21564079	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003448556
NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)	SNV Germline	Chr1:21576591	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003448652
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)	SNV Germline	Chr1:21576590	Likely pathogenic	Hypophosphatasia Adult hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003448653 RCV003466079
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)	SNV Germline	Chr1:21568162	Pathogenic/Likely pathogenic	Hypophosphatasia Adult hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003448655 RCV003459864 RCV003553944
NM_000478.6(ALPL):c.385G>A (p.Gly129Arg)	SNV Germline	Chr1:21563197	Conflicting classifications of pathogenicity	Adult hypophosphatasia not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003470050 RCV004801350
NM_000478.6(ALPL):c.358G>A (p.Gly120Arg)	SNV Unknown	Chr1:21563170	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003470075
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			2 SubmittersRCV003461845 RCV003689092
NM_000478.6(ALPL):c.413G>C (p.Arg138Pro)	SNV Unknown	Chr1:21563225	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003470102
NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)	SNV Germline	Chr1:21561126	Pathogenic/Likely pathogenic	Adult hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003476483 RCV003553956
NM_000478.6(ALPL):c.382G>A (p.Val128Met)	SNV Germline	Chr1:21563194	Pathogenic	Adult hypophosphatasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003461857 RCV003553957
NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)	SNV Unknown	Chr1:21561141	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003461858
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)	SNV Germline	Chr1:21576609	Pathogenic/Likely pathogenic	Condition: not provided Adult hypophosphatasia Childhood hypophosphatasia	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003553958 RCV003470120 RCV004801351
NM_000478.6(ALPL):c.648+1G>T	SNV Unknown	Chr1:21564217	Pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003470123
NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)	SNV Unknown	Chr1:21563163	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003470148
NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)	SNV Unknown	Chr1:21576528	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003470190
NM_000478.6(ALPL):c.298-1G>A	SNV Unknown	Chr1:21563109	Pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003470203
NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser)	SNV Germline	Chr1:21577562	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003448658
NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)	SNV Germline	Chr1:21568223	Pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003448894
NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)	SNV Germline	Chr1:21570314	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003448897
NM_000478.6(ALPL):c.286G>C (p.Ala96Pro)	SNV Germline	Chr1:21561201	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003448898
NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)	SNV Germline	Chr1:21564129	Pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003480004
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)	SNV Germline	Chr1:21568114	Likely pathogenic	Condition: not provided Hypophosphatasia Alpha thalassemia-X-linked intellectual disability syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003567461 RCV004526999 RCV004540724
NM_000478.6(ALPL):c.1144G>C (p.Val382Leu)	SNV Germline	Chr1:21575879	Conflicting classifications of pathogenicity	Hypophosphatasia not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003533801 RCV004690448
NM_000478.6(ALPL):c.1137T>G (p.His379Gln)	SNV Germline	Chr1:21575872	Conflicting classifications of pathogenicity	Infantile hypophosphatasia Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004784171 RCV003723537
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			2 SubmittersRCV003859717 RCV004765385
NM_000478.6(ALPL):c.1327G>A (p.Ala443Thr)	SNV Germline	Chr1:21577400	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003881690
NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)	SNV Germline	Chr1:21573673	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003881692
NM_000478.6(ALPL):c.173T>C (p.Leu58Pro)	SNV Germline	Chr1:21560737	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV003991958
NM_000478.6(ALPL):c.1465T>A (p.Cys489Ser)	SNV Germline	Chr1:21577538	Pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004545937
NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys)	SNV Germline	Chr1:21564128	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004547439
NM_000478.6(ALPL):c.319G>A (p.Val107Ile)	SNV Germline	Chr1:21563131	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004555139
NM_000478.6(ALPL):c.583G>T (p.Glu195Ter)	SNV Unknown	Chr1:21564151	Likely pathogenic	Adult hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004576841
NM_000478.6(ALPL):c.1327G>T (p.Ala443Ser)	SNV Germline	Chr1:21577400	Conflicting classifications of pathogenicity	Hypophosphatasia not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV004586481 RCV004690511
NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro)	SNV Germline	Chr1:21576545	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004586482
NM_000478.6(ALPL):c.1156G>C (p.Gly386Arg)	SNV Germline	Chr1:21575891	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004596008
NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)	SNV Germline	Chr1:21576584	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004696623
NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)	SNV Germline	Chr1:21576539	Likely pathogenic	Hypophosphatasia	Criteria Provided Single Submitter			1 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	Likely pathogenic	Childhood hypophosphatasia	Criteria Provided Single Submitter			1 SubmittersRCV004789984
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.535G>A (p.Ala179Thr)

SNV
Germline

Chr1:21564103

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256919

rs_121918000

10 SubmittersRCV000014648 RCV001093406 RCV001582482 RCV002496361 RCV003466856

NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)

SNV
Germline

Chr1:21561126

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256920

rs_121918001

6 SubmittersRCV000014649 RCV001851857 RCV003466857 RCV004700234 RCV004739304

NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)

SNV
Germline

Chr1:21573683

Pathogenic

Condition: not provided
Hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Osteogenesis imperfecta
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256921

rs_121918002

15 SubmittersRCV000224505 RCV000589324 RCV000014650 RCV000014651 RCV000014652 RCV002276545 RCV002496362 RCV004549362

NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)

SNV
Germline

Chr1:21561127

Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256922

rs_121918003

4 SubmittersRCV000014653 RCV001362179 RCV003460473 RCV003486545

NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)

SNV
Germline

Chr1:21564188

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA256923

rs_121918004

5 SubmittersRCV000014654 RCV000224906 RCV003230364

NM_000478.6(ALPL):c.98C>T (p.Ala33Val)

SNV
Germline

Chr1:21560662

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256924

rs_121918005

5 SubmittersRCV000014655 RCV001273156 RCV001042961 RCV001333468 RCV003473099

NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)

SNV
Germline

Chr1:21576638

Pathogenic

Infantile hypophosphatasia

No Assertion Criteria Provided

CA256925

rs_121918006

1 SubmittersRCV000014656

NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)

SNV
Germline

Chr1:21573694

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256926

rs_121918017

8 SubmittersRCV000014657 RCV001549327 RCV001582483 RCV002504785 RCV003460474 RCV004549363

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
Osteogenesis imperfecta
Inborn genetic diseases
See cases
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256927

rs_121918007

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

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

15 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

15 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
Hypophosphatasia
Adult hypophosphatasia
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256930

rs_121918010

16 SubmittersRCV000014664 RCV000207096 RCV000380876 RCV000724148 RCV002504786 RCV004549366

NM_000478.6(ALPL):c.407G>A (p.Arg136His)

SNV
Germline

Chr1:21563219

Pathogenic/Likely pathogenic

Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Osteogenesis imperfecta
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Odontohypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256932

rs_121918011

21 SubmittersRCV000014666 RCV000169168 RCV000767525 RCV000770988 RCV000364426 RCV002276548 RCV002490366 RCV004798728

NM_000478.6(ALPL):c.485G>T (p.Gly162Val)

SNV
Germline

Chr1:21564053

Conflicting classifications of pathogenicity

Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256933

rs_121918012

3 SubmittersRCV000014667 RCV000670940 RCV001239346

NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)

SNV
Germline

Chr1:21563158

Pathogenic/Likely pathogenic

Childhood hypophosphatasia
Adult hypophosphatasia
Odontohypophosphatasia
Condition: not provided
Infantile hypophosphatasia
Hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123348

rs_121918013

11 SubmittersRCV000014668 RCV000014669 RCV000014670 RCV000224118 RCV000169426 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

Criteria Provided
Multiple Submitters
No Conflicts

CA212949

rs_749544042

10 SubmittersRCV000014671 RCV000710058 RCV001227927 RCV001553715 RCV003466858 RCV004549368

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

Criteria Provided
Multiple Submitters
No Conflicts

CA199266

rs_121918014

16 SubmittersRCV000014672 RCV000169778 RCV000710510 RCV001194283 RCV001253058 RCV004719646 RCV004739306

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

SNV
Germline

Chr1:21563135

Pathogenic

Odontohypophosphatasia

No Assertion Criteria Provided

CA123349

rs_121918015

1 SubmittersRCV000014673

NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)

SNV
Germline

Chr1:21577439

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA256934

rs_121918016

4 SubmittersRCV000014674 RCV003448247 RCV001387538 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

12 SubmittersRCV000014675 RCV000014676 RCV000723607 RCV000668001 RCV001826462 RCV003466859 RCV003335039

NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)

SNV
Germline

Chr1:21564094

Pathogenic/Likely pathogenic

Condition: not provided
Infantile hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA256935

rs_121918019

18 SubmittersRCV000808101 RCV000014677 RCV000014678 RCV001275108 RCV000763299 RCV002288490 RCV004549369 RCV002276549

NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)

SNV
Germline

Chr1:21570326

Pathogenic

Infantile hypophosphatasia
Childhood hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256936

rs_121918020

7 SubmittersRCV000014679 RCV000169779 RCV000817506 RCV001804731 RCV003473100 RCV004549370

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274142

rs_781264043

4 SubmittersRCV000169295 RCV001204937 RCV003474904 RCV004552944

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

12 SubmittersRCV000169128 RCV000729215 RCV001196302 RCV002265652 RCV002505222 RCV002516529 RCV003462265

NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)

SNV
Germline

Chr1:21568122

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA274235

rs_766076920

6 SubmittersRCV000169383 RCV001208323 RCV003468842 RCV001831990

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

5 SubmittersRCV000169064 RCV001264499 RCV001378582 RCV002498840 RCV003462263

NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)

SNV
Germline

Chr1:21570321

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274277

rs_786204634

6 SubmittersRCV000169412 RCV001582665 RCV003468843 RCV002515199

NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)

SNV
Germline

Chr1:21573673

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273965

rs_786204473

3 SubmittersRCV000169122 RCV002515193

NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)

SNV
Germline

Chr1:21573693

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA274381

rs_755529290

5 SubmittersRCV001850403 RCV003468845 RCV004586588 RCV000169514

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

3 SubmittersRCV000178776 RCV001835709

NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)

SNV
Germline

Chr1:21563248

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA245947

rs_138587317

8 SubmittersRCV000178777 RCV001096294 RCV001553716 RCV002515269

NM_000478.6(ALPL):c.673T>C (p.Tyr225His)

SNV
Germline

Chr1:21568128

Conflicting classifications of pathogenicity

Condition: not provided
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Conflicting Classifications

CA666578

rs_759125473

4 SubmittersRCV000393235 RCV002509350 RCV002494864

NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)

SNV
Germline

Chr1:21573722

Pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA666680

rs_768555495

4 SubmittersRCV000322603 RCV002509351 RCV003463768

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

11 SubmittersRCV000263557 RCV000710516 RCV001820834 RCV002519300 RCV004549605

NM_000478.6(ALPL):c.612C>T (p.Ile204=)

SNV
Germline

Chr1:21564180

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
not specified

Criteria Provided
Conflicting Classifications

CA666538

rs_141448778

8 SubmittersRCV000398912 RCV001098040 RCV001660555

NM_000478.6(ALPL):c.1002C>T (p.Gly334=)

SNV
Germline

Chr1:21575737

Conflicting classifications of pathogenicity

Hypophosphatasia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA666719

rs_370122334

6 SubmittersRCV000388202 RCV000726419 RCV003488505

NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)

SNV
Germline

Chr1:21563225

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
not specified
ALPL-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA666480

rs_140167865

7 SubmittersRCV000941105 RCV000404402 RCV000502406 RCV004739667 RCV004021421

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.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

Criteria Provided
Single Submitter

CA666363

rs_764322898

2 SubmittersRCV000409382 RCV004549832

NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)

SNV
Germline

Chr1:21560652

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16040712

rs_1057516334

3 SubmittersRCV000410316 RCV001050992 RCV002502420

NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr1:21560694

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16040714

rs_1057516293

3 SubmittersRCV000408970 RCV001389814 RCV001175579

NM_000478.6(ALPL):c.297+2T>A

SNV
Unknown

Chr1:21561214

Likely pathogenic

Infantile hypophosphatasia

Criteria Provided
Single Submitter

CA16040715

rs_1057517304

1 SubmittersRCV000411240

NM_000478.6(ALPL):c.997+2T>G

SNV
Germline

Chr1:21573801

Pathogenic

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16040720

rs_1057517391

2 SubmittersRCV000410728 RCV001214322

NM_000478.6(ALPL):c.998-2A>G

SNV
Germline

Chr1:21575731

Likely pathogenic

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

CA666741

rs_771540767

3 SubmittersRCV000411905 RCV001861389 RCV004796165

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

Criteria Provided
Multiple Submitters
No Conflicts

CA666834

rs_149889416

7 SubmittersRCV000411942 RCV000778967 RCV001045527 RCV001580493 RCV003470350

NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter)

SNV
Unknown

Chr1:21577499

Likely pathogenic

Infantile hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16040723

rs_1057517173

2 SubmittersRCV000410612 RCV004567887

NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)

SNV
Germline

Chr1:21568123

Pathogenic

Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA666577

rs_199665722

7 SubmittersRCV000428517 RCV000984145 RCV002480299 RCV003470381 RCV001833531

NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)

SNV
Germline

Chr1:21561142

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16603529

rs_1057521085

4 SubmittersRCV000418683 RCV002278676 RCV004567908

NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)

SNV
Germline

Chr1:21575739

Pathogenic/Likely pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16603569

rs_1057524727

4 SubmittersRCV000733233 RCV003482143

NM_000478.6(ALPL):c.283G>A (p.Val95Met)

SNV
Germline

Chr1:21561198

Conflicting classifications of pathogenicity

Low alkaline phosphatase
Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia
Osteogenesis imperfecta

Criteria Provided
Conflicting Classifications

CA666442

rs_139811782

8 SubmittersRCV000490714 RCV001067182 RCV001535923 RCV001580504 RCV001273158 RCV003470594 RCV004568606 RCV002279265

NM_000478.6(ALPL):c.530C>T (p.Ala177Val)

SNV
Germline

Chr1:21564098

Conflicting classifications of pathogenicity

Low alkaline phosphatase
Condition: not provided
not specified
Adult hypophosphatasia

Criteria Provided
Conflicting Classifications

CA338877907

rs_1114167438

4 SubmittersRCV000490737 RCV001851327 RCV003387860 RCV003470595

NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)

SNV
Germline

Chr1:21577476

Pathogenic/Likely pathogenic

Low alkaline phosphatase
Adult hypophosphatasia
ALPL-related disorder
Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA666842

rs_766656419

9 SubmittersRCV000490707 RCV002464210 RCV004740265 RCV001380649 RCV001805108

NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)

SNV
Germline

Chr1:21563152

Pathogenic/Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

CA338877136

rs_1320839573

5 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

Criteria Provided
Multiple Submitters
No Conflicts

CA666626

rs_781272386

7 SubmittersRCV000587658 RCV000674432 RCV001597180 RCV002279370 RCV003459459

NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)

SNV
Germline

Chr1:21564118

Pathogenic/Likely pathogenic

Inborn genetic diseases
Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Osteogenesis imperfecta

Criteria Provided
Multiple Submitters
No Conflicts

CA666527

rs_763159520

12 SubmittersRCV000623730 RCV000674297 RCV001046115 RCV003465357 RCV001730702 RCV002279446

NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)

SNV
Unknown

Chr1:21560651

Likely pathogenic

Infantile hypophosphatasia

Criteria Provided
Single Submitter

rs_1553411779

1 SubmittersRCV000666764

NM_000478.6(ALPL):c.262G>A (p.Glu88Lys)

SNV
Germline

Chr1:21561177

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_1045735640

3 SubmittersRCV000664832 RCV002530636 RCV004702274

NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)

SNV
Germline

Chr1:21563234

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_916300043

3 SubmittersRCV000667160 RCV001855475 RCV003465465

NM_000478.6(ALPL):c.862+1G>A

SNV
Unknown

Chr1:21570375

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553413512

2 SubmittersRCV000669273 RCV004568522

NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr1:21575774

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553414560

3 SubmittersRCV000665524 RCV003558484 RCV004568494

NM_000478.6(ALPL):c.318G>C (p.Gln106His)

SNV
Germline

Chr1:21563130

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1553412268

4 SubmittersRCV000669326 RCV001300265 RCV001730705 RCV004568525

NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)

SNV
Germline

Chr1:21563180

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
not specified
Adult hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1188506084

4 SubmittersRCV000671010 RCV001861800 RCV002265848 RCV003465505

NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)

SNV
Germline

Chr1:21563219

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_121918011

2 SubmittersRCV000666790 RCV003558489

NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro)

SNV
Germline

Chr1:21577406

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1553415041

3 SubmittersRCV000667672 RCV004017715 RCV004586858

NM_000478.6(ALPL):c.1375G>T (p.Val459Leu)

SNV
Germline

Chr1:21577448

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1054159992

2 SubmittersRCV000674894 RCV001225796

NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)

SNV
Germline

Chr1:21563146

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1384701659

4 SubmittersRCV000664567 RCV001377620 RCV003459565

NM_000478.6(ALPL):c.629A>G (p.His210Arg)

SNV
Germline

Chr1:21564197

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748031071

3 SubmittersRCV000672920 RCV001597199

NM_000478.6(ALPL):c.670A>G (p.Lys224Glu)

SNV
Germline

Chr1:21568125

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1226800998

2 SubmittersRCV000664774 RCV002532036

NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)

SNV
Germline

Chr1:21575777

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
not specified
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Conflicting Classifications

rs_1553414563

5 SubmittersRCV000671791 RCV001378583 RCV002265850 RCV003465511 RCV004547844

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

rs_1553414611

5 SubmittersRCV000672795 RCV001071997 RCV003465518 RCV003155277

NM_000478.6(ALPL):c.649-11G>C

SNV
Germline

Chr1:21568093

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376565308

2 SubmittersRCV000664887 RCV002060807

NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter)

SNV
Unknown

Chr1:21577397

Likely pathogenic

Infantile hypophosphatasia

Criteria Provided
Single Submitter

rs_1553415035

1 SubmittersRCV000667090

NM_000478.6(ALPL):c.1375G>A (p.Val459Met)

SNV
Germline

Chr1:21577448

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1054159992

3 SubmittersRCV000669598 RCV001378584 RCV004586861

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

Criteria Provided
Conflicting Classifications

rs_199669988

8 SubmittersRCV000673035 RCV000778223 RCV000806323 RCV001252803 RCV002249400 RCV002271560 RCV002531329

NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)

SNV
Germline

Chr1:21575745

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Conflicting Classifications

rs_1219494274

7 SubmittersRCV000668539 RCV001066978 RCV001829847 RCV003472101 RCV004547840

NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)

SNV
Germline

Chr1:21577544

Pathogenic/Likely pathogenic

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1413274209

8 SubmittersRCV000666509 RCV001036085 RCV000763304 RCV001829834 RCV003465452

NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)

SNV
Germline

Chr1:21568113

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_747488546

4 SubmittersRCV000670035 RCV001236036 RCV003225733

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

rs_769020799

5 SubmittersRCV000674883 RCV001093407 RCV003226368 RCV004568571

NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)

SNV
Germline

Chr1:21575906

Pathogenic/Likely 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

rs_371243939

10 SubmittersRCV000665189 RCV000763303 RCV001050932 RCV001275110 RCV002279480 RCV003465439 RCV004026080 RCV004740395

NM_000478.6(ALPL):c.1172G>A (p.Arg391His)

SNV
Germline

Chr1:21575907

Pathogenic

Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1442918125

6 SubmittersRCV001532998 RCV000665417 RCV001063207 RCV004568492

NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys)

SNV
Germline

Chr1:21576617

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1553414868

3 SubmittersRCV000674648 RCV004800532 RCV003558529

NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)

SNV
Germline

Chr1:21577533

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Childhood hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1229517379

4 SubmittersRCV000672960 RCV001789781 RCV001855588 RCV003465521

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

rs_550358395

6 SubmittersRCV000710511 RCV001825412 RCV002279495 RCV002507242

NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)

SNV
Germline

Chr1:21573796

Pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_768976020

3 SubmittersRCV000722315 RCV003465651

NM_000478.6(ALPL):c.395C>T (p.Ala132Val)

SNV
Germline

Chr1:21563207

Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558548925

6 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558557428

3 SubmittersRCV000761222 RCV002533861 RCV004689876

NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)

SNV
Germline

Chr1:21564166

Likely pathogenic

Infantile hypophosphatasia

No Assertion Criteria Provided

rs_1570276921

1 SubmittersRCV000786924

NM_000478.6(ALPL):c.299C>T (p.Thr100Met)

SNV
Germline

Chr1:21563111

Pathogenic/Likely pathogenic

not specified
Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1201942473

8 SubmittersRCV001002604 RCV003229004 RCV001382223 RCV004782623 RCV004553548

NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)

SNV
Germline

Chr1:21563143

Pathogenic/Likely pathogenic

Adult hypophosphatasia
Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_773257111

6 SubmittersRCV001029819 RCV001248534 RCV003447575

NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)

SNV
Germline

Chr1:21575769

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
ALPL-related disorder

Criteria Provided
Conflicting Classifications

rs_1644719715

4 SubmittersRCV001063193 RCV003448366 RCV004547968

NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)

SNV
Germline

Chr1:21577490

Pathogenic/Likely pathogenic

Adult hypophosphatasia
Hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644755212

5 SubmittersRCV003467753 RCV003387956 RCV001048323

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
ALPL-related disorder
Adult hypophosphatasia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517173

6 SubmittersRCV001047689 RCV001844265 RCV002479289 RCV004553586 RCV003462538 RCV004986759

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1292415045

5 SubmittersRCV001058683 RCV001810492 RCV001732028 RCV003467795

NM_000478.6(ALPL):c.109C>T (p.Leu37=)

SNV
Germline

Chr1:21560673

Conflicting classifications of pathogenicity

Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1205971311

3 SubmittersRCV001101711 RCV001559150 RCV001559151 RCV001559152 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

rs_1015578994

4 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

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
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1374504617

4 SubmittersRCV001096293 RCV002554893 RCV003469293 RCV002497500

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

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

rs_372247799

2 SubmittersRCV001098042 RCV001439601

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

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

rs_376020180

3 SubmittersRCV001096385 RCV001461342

NM_000478.6(ALPL):c.178G>C (p.Asp60His)

SNV
Germline

Chr1:21560742

Conflicting classifications of pathogenicity

not specified
Hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1644472852

4 SubmittersRCV001192372 RCV001822864 RCV001351723

NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter)

SNV
Germline

Chr1:21576614

Pathogenic

Hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_759017288

3 SubmittersRCV001194282 RCV001205339 RCV003469310

NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)

SNV
Unknown

Chr1:21564139

Pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

rs_121918007

1 SubmittersRCV001198044

NM_000478.6(ALPL):c.1400T>C (p.Met467Thr)

SNV
Germline

Chr1:21577473

Conflicting classifications of pathogenicity

Adult hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763073466

2 SubmittersRCV001196910 RCV002560228

NM_000478.6(ALPL):c.997+2T>A

SNV
Germline

Chr1:21573801

Pathogenic/Likely pathogenic

Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517391

6 SubmittersRCV001195741 RCV001387323 RCV001779133 RCV002560208

NM_000478.6(ALPL):c.824T>C (p.Leu275Pro)

SNV
Germline

Chr1:21570336

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1237252052

2 SubmittersRCV001213860 RCV004570471

NM_000478.6(ALPL):c.1077C>G (p.Ile359Met)

SNV
Germline

Chr1:21575812

Pathogenic/Likely pathogenic

Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_567349821

3 SubmittersRCV001210319 RCV002497720 RCV003462706

NM_000478.6(ALPL):c.1162T>C (p.Tyr388His)

SNV
Germline

Chr1:21575897

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644722881

2 SubmittersRCV001207052 RCV003462693

NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)

SNV
Germline

Chr1:21563218

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_747762186

5 SubmittersRCV001238820 RCV001253680 RCV001257429 RCV002290655 RCV003235509

NM_000478.6(ALPL):c.575T>C (p.Met192Thr)

SNV
Germline

Chr1:21564143

Pathogenic/Likely pathogenic

Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_765011829

7 SubmittersRCV001243051 RCV001257096 RCV003469463 RCV004800747 RCV004740628

NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)

SNV
Germline

Chr1:21577421

Pathogenic/Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_138690664

4 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
not specified

Criteria Provided
Conflicting Classifications

rs_761079751

4 SubmittersRCV001245174 RCV001835229 RCV002282498

NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr1:21560658

Pathogenic/Likely pathogenic

Hypophosphatasia
Condition: not provided
Adult hypophosphatasia
See cases
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209147330

5 SubmittersRCV001251316 RCV002568714 RCV003462830 RCV004584429 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770093969

6 SubmittersRCV001253054 RCV001264416 RCV001389813 RCV004740636

NM_000478.6(ALPL):c.500C>A (p.Thr167Lys)

SNV
Germline

Chr1:21564068

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

rs_1408325840

1 SubmittersRCV001253015

NM_000478.6(ALPL):c.500C>T (p.Thr167Met)

SNV
Germline

Chr1:21564068

Pathogenic/Likely pathogenic

Adult hypophosphatasia
Condition: not provided
Hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1408325840

6 SubmittersRCV001253034 RCV001879863 RCV004782688 RCV004548107

NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg)

SNV
Germline

Chr1:21577404

Conflicting classifications of pathogenicity

Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1644752699

2 SubmittersRCV001253668 RCV001822869

NM_000478.6(ALPL):c.1190-2A>T

SNV
Germline

Chr1:21576520

Pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

rs_1644739549

1 SubmittersRCV001253274

NM_000478.6(ALPL):c.617A>G (p.Tyr206Cys)

SNV
Germline

Chr1:21564185

Likely pathogenic

Infantile hypophosphatasia

No Assertion Criteria Provided

rs_780790767

1 SubmittersRCV001257430

NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)

SNV
Germline

Chr1:21568193

Pathogenic/Likely pathogenic

Hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1223142821

5 SubmittersRCV001264483 RCV003320818

NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro)

SNV
Germline

Chr1:21576615

Pathogenic

Adult hypophosphatasia
Condition: not provided

Criteria Provided
Single Submitter

rs_1644741201

2 SubmittersRCV001280814 RCV001871622

NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)

SNV
Germline

Chr1:21563269

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_1644512630

3 SubmittersRCV001813150 RCV001835365

NM_000478.6(ALPL):c.745G>A (p.Gly249Ser)

SNV
Germline

Chr1:21568200

Likely pathogenic

Hypophosphatasia
Condition: not provided

Criteria Provided
Single Submitter

rs_770539523

2 SubmittersRCV001830233 RCV001306765

NM_000478.6(ALPL):c.1022A>G (p.His341Arg)

SNV
Germline

Chr1:21575757

Pathogenic/Likely pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1382219911

3 SubmittersRCV001300266 RCV001830171

NM_000478.6(ALPL):c.1415A>G (p.His472Arg)

SNV
Germline

Chr1:21577488

Likely pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644755133

2 SubmittersRCV001300488 RCV003447585

NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)

SNV
Germline

Chr1:21577401

Pathogenic/Likely pathogenic

Childhood hypophosphatasia
Condition: not provided
Adult hypophosphatasia
Hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_768053120

6 SubmittersRCV001332475 RCV001385128 RCV003469560 RCV002509664 RCV003389335

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

rs_772432010

3 SubmittersRCV001351724 RCV001825976 RCV003469587

NM_000478.6(ALPL):c.371A>G (p.Asn124Ser)

SNV
Germline

Chr1:21563183

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia

Criteria Provided
Conflicting Classifications

rs_11586344

3 SubmittersRCV001366072 RCV004554858

NM_000478.6(ALPL):c.508A>G (p.Asn170Asp)

SNV
Germline

Chr1:21564076

Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148161378

3 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

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
Hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644478533

5 SubmittersRCV001389815 RCV003469764 RCV003479323 RCV002493933

NM_000478.6(ALPL):c.212G>A (p.Arg71His)

SNV
Germline

Chr1:21561127

Pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918003

6 SubmittersRCV001382221 RCV001836391 RCV003388008 RCV004556085

NM_000478.6(ALPL):c.223G>A (p.Gly75Ser)

SNV
Germline

Chr1:21561138

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1304394441

2 SubmittersRCV001382222 RCV003469672

NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)

SNV
Germline

Chr1:21563115

Pathogenic/Likely pathogenic

Condition: not provided
Infantile hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_746273959

3 SubmittersRCV001389868 RCV001449738 RCV003469765

NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)

SNV
Germline

Chr1:21564052

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_760029254

4 SubmittersRCV001389954 RCV003473994 RCV002282538

NM_000478.6(ALPL):c.532T>C (p.Tyr178His)

SNV
Germline

Chr1:21564100

Pathogenic/Likely pathogenic

Condition: not provided
Micromelia
Adult hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1215600806

5 SubmittersRCV001389955 RCV002286432 RCV003463033 RCV004796630 RCV004526122

NM_000478.6(ALPL):c.558G>A (p.Trp186Ter)

SNV
Germline

Chr1:21564126

Pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148161624

2 SubmittersRCV001387054 RCV003771260

NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)

SNV
Germline

Chr1:21568114

Pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644592603

4 SubmittersRCV001389956 RCV001831402 RCV003473995

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1644687066

5 SubmittersRCV001387322 RCV002551555 RCV003469729 RCV004740679

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

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

rs_2148192444

5 SubmittersRCV001385127 RCV003331144 RCV004570954 RCV004740678

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

rs_148357203

3 SubmittersRCV001542259 RCV002032527

NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)

SNV
Germline

Chr1:21575901

Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_746390776

5 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_776117933

4 SubmittersRCV001596919 RCV003333168 RCV003470872

NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)

SNV
Germline

Chr1:21577500

Pathogenic/Likely pathogenic

Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148195004

5 SubmittersRCV001731123 RCV002496057 RCV001861033 RCV003474016

NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)

SNV
Germline

Chr1:21568201

Conflicting classifications of pathogenicity

Condition: not provided
Childhood hypophosphatasia
Infantile hypophosphatasia
Adult hypophosphatasia
not specified

Criteria Provided
Conflicting Classifications

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
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_765458125

4 SubmittersRCV001785916 RCV003317526 RCV003464139

NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys)

SNV
Germline

Chr1:21577552

Pathogenic

Childhood hypophosphatasia

Criteria Provided
Single Submitter

rs_759758484

1 SubmittersRCV001789735

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

Criteria Provided
Conflicting Classifications

rs_1644529037

2 SubmittersRCV001810539 RCV003772268

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

rs_747167000

3 SubmittersRCV001813915 RCV003728016 RCV004552033

NM_000478.6(ALPL):c.41T>C (p.Leu14Pro)

SNV
Germline

Chr1:21554122

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_2148135377

1 SubmittersRCV001815056

NM_000478.6(ALPL):c.140A>T (p.Asn47Ile)

SNV
Germline

Chr1:21560704

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_2148151094

1 SubmittersRCV001815059

NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr)

SNV
Germline

Chr1:21561109

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_1644478359

1 SubmittersRCV001815061

NM_000478.6(ALPL):c.361G>A (p.Val121Met)

SNV
Germline

Chr1:21563173

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_1476072388

1 SubmittersRCV001815062

NM_000478.6(ALPL):c.601T>C (p.Cys201Arg)

SNV
Germline

Chr1:21564169

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

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

rs_2148152364

4 SubmittersRCV001815064 RCV004762189 RCV004774469

NM_000478.6(ALPL):c.146A>T (p.Asn49Ile)

SNV
Germline

Chr1:21560710

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_868522953

1 SubmittersRCV001818095

NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)

SNV
Germline

Chr1:21561162

Pathogenic/Likely pathogenic

Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148152544

3 SubmittersRCV001823791 RCV002489891 RCV004552045

NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp)

SNV
Germline

Chr1:21576575

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_2148192455

1 SubmittersRCV001848631

NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp)

SNV
Germline

Chr1:21577491

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

rs_2148194946

1 SubmittersRCV001848632

NM_000478.6(ALPL):c.352C>A (p.Leu118Met)

SNV
Germline

Chr1:21563164

Likely pathogenic

Adult hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1284058976

2 SubmittersRCV003475266 RCV002008130

NM_000478.6(ALPL):c.551G>A (p.Arg184Gln)

SNV
Germline

Chr1:21564119

Pathogenic

Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1558549798

2 SubmittersRCV001974856 RCV002507646

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
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_772682471

4 SubmittersRCV001999838 RCV002492119 RCV003471131 RCV003226510

NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)

SNV
Germline

Chr1:21563271

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Infantile hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_761836226

4 SubmittersRCV001884220 RCV003464207 RCV004765360

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

rs_1644753808

2 SubmittersRCV002014284 RCV003448446

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

rs_2148171286

3 SubmittersRCV001970877 RCV002497930 RCV004571868

NM_000478.6(ALPL):c.815G>T (p.Arg272Leu)

SNV
Germline

Chr1:21570327

Pathogenic

Adult hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_781272386

2 SubmittersRCV003471180 RCV001972664

NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)

SNV
Germline

Chr1:21573782

Pathogenic/Likely pathogenic

Condition: not provided
Osteogenesis imperfecta
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_779832611

4 SubmittersRCV001972665 RCV002276955 RCV003475237

NM_000478.6(ALPL):c.1231A>G (p.Thr411Ala)

SNV
Germline

Chr1:21576563

Pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148192403

2 SubmittersRCV001953835 RCV004587273

NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)

SNV
Germline

Chr1:21577475

Pathogenic/Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1196976671

3 SubmittersRCV001972666 RCV003772952 RCV004571737

NM_000478.6(ALPL):c.1444C>A (p.His482Asn)

SNV
Germline

Chr1:21577517

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
not specified
ALPL-related disorder

Criteria Provided
Conflicting Classifications

rs_780857373

5 SubmittersRCV001949280 RCV003448440 RCV003471181 RCV003155449 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

Criteria Provided
Conflicting Classifications

rs_200621180

5 SubmittersRCV001973364 RCV002276963 RCV002479619 RCV003464338

NM_000478.6(ALPL):c.967A>G (p.Asn323Asp)

SNV
Germline

Chr1:21573769

Likely pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148184736

2 SubmittersRCV001966584 RCV003448441

NM_000478.6(ALPL):c.1268T>C (p.Val423Ala)

SNV
Germline

Chr1:21576600

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148192552

2 SubmittersRCV001999288 RCV003471247

NM_000478.6(ALPL):c.997+3A>C

SNV
Germline

Chr1:21573802

Likely pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553414147

2 SubmittersRCV001969277 RCV003471220

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_756418235

5 SubmittersRCV001976034 RCV002497923 RCV003471221 RCV004553602

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

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

rs_1644529717

2 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

rs_2148189619

2 SubmittersRCV001942171 RCV003447611

NM_000478.6(ALPL):c.1120G>A (p.Val374Met)

SNV
Germline

Chr1:21575855

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia
Infantile hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_552831415

5 SubmittersRCV001939650 RCV002492124 RCV003401965 RCV003471161

NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser)

SNV
Germline

Chr1:21576608

Pathogenic

Condition: not provided
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_770548228

3 SubmittersRCV001939652 RCV003471162 RCV004699585

NM_000478.6(ALPL):c.1023T>A (p.His341Gln)

SNV
Germline

Chr1:21575758

Pathogenic

Condition: not provided
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1280398041

2 SubmittersRCV001972846 RCV004765362

NM_000478.6(ALPL):c.884T>C (p.Met295Thr)

SNV
Germline

Chr1:21573686

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1220125702

4 SubmittersRCV001925196 RCV004699541 RCV003475155 RCV002555640

NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr1:21577427

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_966212736

3 SubmittersRCV001903527 RCV004571581 RCV002300620

NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)

SNV
Germline

Chr1:21563206

Likely pathogenic

Condition: not provided
Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_757771793

3 SubmittersRCV002001562 RCV002236196 RCV003471236

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

rs_2148184404

3 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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763457259

3 SubmittersRCV001974667 RCV002243489 RCV003464266

NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp)

SNV
Germline

Chr1:21577437

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1289406215

3 SubmittersRCV001963563 RCV003485756

NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys)

SNV
Germline

Chr1:21563114

Conflicting classifications of pathogenicity

Hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2148158064

2 SubmittersRCV002227833 RCV003679078

NM_000478.6(ALPL):c.705G>T (p.Glu235Asp)

SNV
Germline

Chr1:21568160

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

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

rs_1416572796

2 SubmittersRCV002243537 RCV003718453

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

2 SubmittersRCV002294767 RCV004765370

NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter)

SNV
Unknown

Chr1:21575786

Likely pathogenic

Adult hypophosphatasia
Infantile hypophosphatasia
Childhood hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV002308067

NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)

SNV
Germline

Chr1:21560674

Likely pathogenic

Condition: not provided
Adult hypophosphatasia
ALPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002630052 RCV003475519 RCV004741421

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

4 SubmittersRCV002630053 RCV003324080 RCV003465995

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

2 SubmittersRCV002648134 RCV003388160

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

2 SubmittersRCV003106570 RCV003447645

NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)

SNV
Germline

Chr1:21576615

Pathogenic/Likely pathogenic

Hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003447629 RCV002613170

NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)

SNV
Germline

Chr1:21564181

Conflicting classifications of pathogenicity

Condition: not provided
Adult hypophosphatasia
Hypophosphatasia

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002609022 RCV003989774 RCV003447630

NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)

SNV
Germline

Chr1:21575735

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia
not specified
ALPL-related disorder

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002622478 RCV003447632 RCV004700795 RCV004725335

NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)

SNV
Germline

Chr1:21570367

Pathogenic

Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002791125 RCV004571261

NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)

SNV
Germline

Chr1:21561210

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002838166 RCV003447636

NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)

SNV
Germline

Chr1:21575753

Conflicting classifications of pathogenicity

Condition: not provided
Hypophosphatasia

Criteria Provided
Conflicting Classifications

2 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

2 SubmittersRCV002890172 RCV003464631

NM_000478.6(ALPL):c.386G>A (p.Gly129Glu)

SNV
Germline

Chr1:21563198

Likely pathogenic

Childhood hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003142389

NM_000478.6(ALPL):c.152C>T (p.Ala51Val)

SNV
Germline

Chr1:21560716

Likely pathogenic

Hypophosphatasia
Condition: not provided
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003317752 RCV003561293 RCV004572920

NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)

SNV
Germline

Chr1:21554110

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 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

3 SubmittersRCV003323272 RCV003561297

NM_000478.6(ALPL):c.952C>T (p.Gln318Ter)

SNV
Unknown

Chr1:21573754

Likely pathogenic

Infantile hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003388642

NM_000478.6(ALPL):c.1161A>G (p.Gly387=)

SNV
Germline

Chr1:21575896

Likely pathogenic

Infantile hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004555665

NM_000478.6(ALPL):c.244G>A (p.Gly82Arg)

SNV
Germline

Chr1:21561159

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003447660

NM_000478.6(ALPL):c.244G>C (p.Gly82Arg)

SNV
Germline

Chr1:21561159

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003447838

NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys)

SNV
Germline

Chr1:21577509

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003447839

NM_000478.6(ALPL):c.527C>T (p.Ala176Val)

SNV
Germline

Chr1:21564095

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003447840

NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly)

SNV
Germline

Chr1:21577401

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003447851

NM_000478.6(ALPL):c.1247G>T (p.Gly416Val)

SNV
Germline

Chr1:21576579

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 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

2 SubmittersRCV003447912 RCV004721194

NM_000478.6(ALPL):c.1157G>A (p.Gly386Asp)

SNV
Germline

Chr1:21575892

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 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

3 SubmittersRCV003448502 RCV003553942

NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)

SNV
Germline

Chr1:21560740

Likely pathogenic

Hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003448555 RCV003708802

NM_000478.6(ALPL):c.511C>G (p.His171Asp)

SNV
Germline

Chr1:21564079

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003448556

NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)

SNV
Germline

Chr1:21576591

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003448652

NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)

SNV
Germline

Chr1:21576590

Likely pathogenic

Hypophosphatasia
Adult hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003448653 RCV003466079

NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)

SNV
Germline

Chr1:21568162

Pathogenic/Likely pathogenic

Hypophosphatasia
Adult hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003448655 RCV003459864 RCV003553944

NM_000478.6(ALPL):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr1:21563197

Conflicting classifications of pathogenicity

Adult hypophosphatasia
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003470050 RCV004801350

NM_000478.6(ALPL):c.358G>A (p.Gly120Arg)

SNV
Unknown

Chr1:21563170

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003470075

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

2 SubmittersRCV003461845 RCV003689092

NM_000478.6(ALPL):c.413G>C (p.Arg138Pro)

SNV
Unknown

Chr1:21563225

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003470102

NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)

SNV
Germline

Chr1:21561126

Pathogenic/Likely pathogenic

Adult hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476483 RCV003553956

NM_000478.6(ALPL):c.382G>A (p.Val128Met)

SNV
Germline

Chr1:21563194

Pathogenic

Adult hypophosphatasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003461857 RCV003553957

NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)

SNV
Unknown

Chr1:21561141

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003461858

NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)

SNV
Germline

Chr1:21576609

Pathogenic/Likely pathogenic

Condition: not provided
Adult hypophosphatasia
Childhood hypophosphatasia

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003553958 RCV003470120 RCV004801351

NM_000478.6(ALPL):c.648+1G>T

SNV
Unknown

Chr1:21564217

Pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003470123

NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)

SNV
Unknown

Chr1:21563163

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003470148

NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)

SNV
Unknown

Chr1:21576528

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003470190

NM_000478.6(ALPL):c.298-1G>A

SNV
Unknown

Chr1:21563109

Pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003470203

NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser)

SNV
Germline

Chr1:21577562

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003448658

NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)

SNV
Germline

Chr1:21568223

Pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003448894

NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)

SNV
Germline

Chr1:21570314

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003448897

NM_000478.6(ALPL):c.286G>C (p.Ala96Pro)

SNV
Germline

Chr1:21561201

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003448898

NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)

SNV
Germline

Chr1:21564129

Pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003480004

NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)

SNV
Germline

Chr1:21568114

Likely pathogenic

Condition: not provided
Hypophosphatasia
Alpha thalassemia-X-linked intellectual disability syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003567461 RCV004526999 RCV004540724

NM_000478.6(ALPL):c.1144G>C (p.Val382Leu)

SNV
Germline

Chr1:21575879

Conflicting classifications of pathogenicity

Hypophosphatasia
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003533801 RCV004690448

NM_000478.6(ALPL):c.1137T>G (p.His379Gln)

SNV
Germline

Chr1:21575872

Conflicting classifications of pathogenicity

Infantile hypophosphatasia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004784171 RCV003723537

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

2 SubmittersRCV003859717 RCV004765385

NM_000478.6(ALPL):c.1327G>A (p.Ala443Thr)

SNV
Germline

Chr1:21577400

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003881690

NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)

SNV
Germline

Chr1:21573673

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003881692

NM_000478.6(ALPL):c.173T>C (p.Leu58Pro)

SNV
Germline

Chr1:21560737

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV003991958

NM_000478.6(ALPL):c.1465T>A (p.Cys489Ser)

SNV
Germline

Chr1:21577538

Pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004545937

NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys)

SNV
Germline

Chr1:21564128

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004547439

NM_000478.6(ALPL):c.319G>A (p.Val107Ile)

SNV
Germline

Chr1:21563131

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004555139

NM_000478.6(ALPL):c.583G>T (p.Glu195Ter)

SNV
Unknown

Chr1:21564151

Likely pathogenic

Adult hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004576841

NM_000478.6(ALPL):c.1327G>T (p.Ala443Ser)

SNV
Germline

Chr1:21577400

Conflicting classifications of pathogenicity

Hypophosphatasia
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004586481 RCV004690511

NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro)

SNV
Germline

Chr1:21576545

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004586482

NM_000478.6(ALPL):c.1156G>C (p.Gly386Arg)

SNV
Germline

Chr1:21575891

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004596008

NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)

SNV
Germline

Chr1:21576584

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004696623

NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)

SNV
Germline

Chr1:21576539

Likely pathogenic

Hypophosphatasia

Criteria Provided
Single Submitter

1 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

Likely pathogenic

Childhood hypophosphatasia

Criteria Provided
Single Submitter

1 SubmittersRCV004789984

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