Alpl Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

1011 records found for search term Alpl

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401915214	CV2831000	single nucleotide variant	NM_000478.6(ALPL):c.-3A>C	not provided [RCV003442741]	uncertain significance	1	21554079	21554079	Human		name
404985728	CV2851918	single nucleotide variant	NM_000478.6(ALPL):c.-6T>C	not provided [RCV003489551]	uncertain significance	1	21554076	21554076	Human		name
13463122	CV439922	single nucleotide variant	NM_000478.6(ALPL):c.*7A>G	Decreased circulating alkaline phosphatase activity [RCV000515727]	uncertain significance	1	21577655	21577655	Human	2	name
11598265	CV278888	single nucleotide variant	NM_000478.6(ALPL):c.-81G>A	Hypophosphatasia [RCV000403514]	uncertain significance	1	21554001	21554001	Human	1	name
11579725	CV279048	single nucleotide variant	NM_000478.6(ALPL):c.*65C>A	Hypophosphatasia [RCV000310997]\|not provided [RCV004714746]	benign\|likely benign	1	21577713	21577713	Human	1	name
11595409	CV279050	single nucleotide variant	NM_000478.6(ALPL):c.*65C>T	Hypophosphatasia [RCV000370356]\|not provided [RCV001540486]	benign	1	21577713	21577713	Human	1	name
11584965	CV279053	single nucleotide variant	NM_000478.6(ALPL):c.*66C>A	Hypophosphatasia [RCV000277901]\|not provided [RCV001582916]	benign\|likely benign	1	21577714	21577714	Human	1	name
11584517	CV280395	single nucleotide variant	NM_000478.6(ALPL):c.*12C>T	Hypophosphatasia [RCV000274567]	uncertain significance	1	21577660	21577660	Human	1	name
28895205	CV863513	single nucleotide variant	NM_000478.6(ALPL):c.-51C>T	Hypophosphatasia [RCV001101709]	uncertain significance	1	21554031	21554031	Human	1	name
28879976	CV863524	single nucleotide variant	NM_000478.6(ALPL):c.*14G>A	Hypophosphatasia [RCV001096386]	likely benign	1	21577662	21577662	Human	1	name
28879979	CV863525	single nucleotide variant	NM_000478.6(ALPL):c.*53C>T	Hypophosphatasia [RCV001096387]	uncertain significance	1	21577701	21577701	Human	1	name
28885441	CV863526	single nucleotide variant	NM_000478.6(ALPL):c.*65C>G	Hypophosphatasia [RCV001098134]	uncertain significance	1	21577713	21577713	Human	1	name
127250840	CV1088475	single nucleotide variant	NM_000478.6(ALPL):c.62-8G>A	ALPL-related disorder [RCV004550149]\|not provided [RCV001425452]	likely benign	1	21560618	21560618	Human	1	name , alternate_id
127273117	CV1088476	single nucleotide variant	NM_000478.6(ALPL):c.62-6G>A	not provided [RCV001442424]	likely benign	1	21560620	21560620	Human		name
151831802	CV1370053	single nucleotide variant	NM_000478.6(ALPL):c.61+3A>G	not provided [RCV001993779]	uncertain significance	1	21554145	21554145	Human		name
156359923	CV2016567	single nucleotide variant	NM_000478.6(ALPL):c.62-9T>G	not provided [RCV002720793]	likely benign	1	21560617	21560617	Human		name
11655428	CV278909	deletion	NM_000478.6(ALPL):c.*124del	Hypophosphatasia [RCV000325855]\|not provided [RCV001612921]	benign\|likely benign	1	21577770	21577770	Human	1	name
11596484	CV278910	single nucleotide variant	NM_000478.6(ALPL):c.*126A>G	Hypophosphatasia [RCV000382769]\|not provided [RCV001618507]	benign	1	21577774	21577774	Human	1	name
11591467	CV278914	single nucleotide variant	NM_000478.6(ALPL):c.*233A>C	Hypophosphatasia [RCV000329197]\|not provided [RCV001540347]	benign	1	21577881	21577881	Human	4	name
11591467	CV278914	single nucleotide variant	NM_000478.6(ALPL):c.*233A>C	Hypophosphatasia [RCV000329197]\|not provided [RCV001540347]	benign	1	21577881	21577882	Human	4	name
11585116	CV278915	single nucleotide variant	NM_000478.6(ALPL):c.*460G>A	Hypophosphatasia [RCV000278651]	benign\|likely benign	1	21578108	21578108	Human	1	name
11597367	CV278918	single nucleotide variant	NM_000478.6(ALPL):c.*480A>C	Hypophosphatasia [RCV000393514]	benign\|likely benign	1	21578128	21578128	Human	1	name
11593404	CV278919	single nucleotide variant	NM_000478.6(ALPL):c.*685A>T	Hypophosphatasia [RCV000348598]	uncertain significance	1	21578333	21578333	Human	1	name
11651734	CV278920	duplication	NM_000478.6(ALPL):c.*694dup	Hypophosphatasia [RCV000300775]\|not provided [RCV002292505]	benign\|likely benign	1	21578333	21578334	Human	1	name
11648943	CV279054	single nucleotide variant	NM_000478.6(ALPL):c.*343C>T	Hypophosphatasia [RCV000284747]	uncertain significance	1	21577991	21577991	Human	1	name
11598499	CV279055	single nucleotide variant	NM_000478.6(ALPL):c.*697C>T	Hypophosphatasia [RCV000406516]	uncertain significance	1	21578345	21578345	Human	1	name
11653827	CV279066	single nucleotide variant	NM_000478.6(ALPL):c.*752A>G	Hypophosphatasia [RCV000313556]	uncertain significance	1	21578400	21578400	Human	1	name
11584169	CV280352	single nucleotide variant	NM_000478.6(ALPL):c.*204T>C	Hypophosphatasia [RCV000271933]\|not provided [RCV001564448]	benign\|likely benign	1	21577852	21577852	Human	1	name
11595960	CV280353	single nucleotide variant	NM_000478.6(ALPL):c.*305C>T	Hypophosphatasia [RCV000376899]\|not provided [RCV001683183]	benign\|likely benign	1	21577953	21577953	Human	1	name
11592770	CV280354	single nucleotide variant	NM_000478.6(ALPL):c.*388C>T	Hypophosphatasia [RCV000342056]\|not provided [RCV004713620]	benign\|likely benign	1	21578036	21578036	Human	4	name
11592770	CV280354	single nucleotide variant	NM_000478.6(ALPL):c.*388C>T	Hypophosphatasia [RCV000342056]\|not provided [RCV004713620]	benign\|likely benign	1	21578036	21578037	Human	4	name
11596275	CV280356	single nucleotide variant	NM_000478.6(ALPL):c.*433A>G	Hypophosphatasia [RCV000380144]\|not provided [RCV004713621]	benign	1	21578081	21578081	Human	1	name
11592181	CV280362	single nucleotide variant	NM_000478.6(ALPL):c.*473G>T	Hypophosphatasia [RCV000336102]	benign\|likely benign	1	21578121	21578121	Human	1	name
405137119	CV3028859	single nucleotide variant	NM_000478.6(ALPL):c.62-1G>A	not provided [RCV003702196]	likely pathogenic	1	21560625	21560625	Human		name
405237289	CV3080904	single nucleotide variant	NM_000478.6(ALPL):c.61+7T>C	not provided [RCV003736132]	likely benign	1	21554149	21554149	Human		name
408370778	CV3513437	single nucleotide variant	NM_000478.6(ALPL):c.-197C>A	ALPL-related disorder [RCV004740068]	likely benign	1	21509425	21509425	Human		name , trait , alternate_id
12738920	CV357054	single nucleotide variant	NM_000478.6(ALPL):c.61+2T>G	ALPL-related disorder [RCV004549832]\|Infantile hypophosphatasia [RCV000409382]	likely pathogenic	1	21554144	21554144	Human	2	name , alternate_id
597692201	CV3715249	single nucleotide variant	NM_000478.6(ALPL):c.62-1G>C	Adult hypophosphatasia [RCV005007491]	likely pathogenic	1	21560625	21560625	Human	1	name
13785701	CV540720	duplication	NM_000478.4(ALPL):c.183dupG	Infantile hypophosphatasia [RCV000671198]\|not provided [RCV001386607]	pathogenic\|likely pathogenic	1	21561095	21561096	Human	1	name
14978181	CV677210	single nucleotide variant	NM_000478.6(ALPL):c.-176C>T	Adult hypophosphatasia [RCV002507454]\|Decreased circulating alkaline phosphatase activity [RCV000850289]	uncertain significance	1	21509446	21509446	Human	3	name
28890715	CV863527	single nucleotide variant	NM_000478.6(ALPL):c.*337A>G	Hypophosphatasia [RCV001099908]	likely benign	1	21577985	21577985	Human	1	name
28890721	CV863528	single nucleotide variant	NM_000478.6(ALPL):c.*431C>A	Hypophosphatasia [RCV001099909]	uncertain significance	1	21578079	21578079	Human	1	name
28895708	CV863529	single nucleotide variant	NM_000478.6(ALPL):c.*684A>C	Hypophosphatasia [RCV001101918]	uncertain significance	1	21578332	21578332	Human	1	name
40906313	CV977477	single nucleotide variant	NM_000478.6(ALPL):c.-194G>A	Adult hypophosphatasia [RCV002493499]\|Hypophosphatasia [RCV001279673]	uncertain significance	1	21509428	21509428	Human	2	name
127273105	CV1058553	single nucleotide variant	NM_000478.6(ALPL):c.182-2A>G	Hypophosphatasia [RCV003447597]\|not provided [RCV001390683]	pathogenic\|likely pathogenic	1	21561095	21561095	Human	1	name
127238261	CV1066796	deletion	NM_000478.6(ALPL):c.649-8del	not provided [RCV001415067]	likely benign	1	21568096	21568096	Human		name
127279500	CV1088474	single nucleotide variant	NM_000478.6(ALPL):c.62-10C>T	not provided [RCV001445837]	likely benign	1	21560616	21560616	Human		name
127291575	CV1110055	single nucleotide variant	NM_000478.6(ALPL):c.863-8C>T	Adult hypophosphatasia [RCV002495657]\|not provided [RCV001458782]	likely benign	1	21573657	21573657	Human	1	name
127286084	CV1130944	single nucleotide variant	NM_000478.6(ALPL):c.792+8G>A	not provided [RCV001494030]	likely benign	1	21568255	21568255	Human		name
127323895	CV1130953	single nucleotide variant	NM_000478.6(ALPL):c.997+9C>T	not provided [RCV001485344]	likely benign	1	21573808	21573808	Human		name
127308889	CV1130959	single nucleotide variant	NM_000478.6(ALPL):c.998-5C>T	not provided [RCV001480713]	likely benign	1	21575728	21575728	Human		name
150434737	CV1206822	single nucleotide variant	NM_000478.6(ALPL):c.62-63T>G	not provided [RCV001582171]	likely benign	1	21560563	21560563	Human		name
151352683	CV1325712	microsatellite	NM_000478.6(ALPL):c.69_74del	Hypophosphatasia [RCV001815058]	likely pathogenic	1	21560624	21560629	Human		name
151756406	CV1336246	single nucleotide variant	NM_000478.6(ALPL):c.62-29G>A	Hypophosphatasia [RCV001848633]	likely benign	1	21560597	21560597	Human	1	name
151767742	CV1387813	single nucleotide variant	NM_000478.6(ALPL):c.649-1G>A	Adult hypophosphatasia [RCV002497930]\|Adult hypophosphatasia [RCV004571868]\|not provided [RCV001970877]	likely pathogenic	1	21568103	21568103	Human	1	name
151751974	CV1397794	single nucleotide variant	NM_000478.6(ALPL):c.997+3A>C	Adult hypophosphatasia [RCV003471220]\|not provided [RCV001969277]	likely pathogenic	1	21573802	21573802	Human	1	name
151866880	CV1468837	single nucleotide variant	NM_000478.6(ALPL):c.862+6T>C	ALPL-related disorder [RCV004553633]\|not provided [RCV002018454]	likely benign\|uncertain significance	1	21570380	21570380	Human	1	name , alternate_id
151713854	CV1476827	single nucleotide variant	NM_000478.6(ALPL):c.862+4A>G	not provided [RCV001908562]\|not specified [RCV005238039]	uncertain significance	1	21570378	21570378	Human		name
152067688	CV1529423	single nucleotide variant	NM_000478.6(ALPL):c.998-6C>T	not provided [RCV002168887]	likely benign	1	21575727	21575727	Human		name
152160603	CV1530828	single nucleotide variant	NM_000478.6(ALPL):c.472+8G>A	not provided [RCV002123121]	likely benign	1	21563292	21563292	Human		name
152086762	CV1531809	single nucleotide variant	NM_000478.6(ALPL):c.181+9C>T	not provided [RCV002077087]	likely benign	1	21560754	21560754	Human		name
152127209	CV1544985	single nucleotide variant	NM_000478.6(ALPL):c.62-11T>A	not provided [RCV002155036]	likely benign	1	21560615	21560615	Human		name
152082062	CV1558692	single nucleotide variant	NM_000478.6(ALPL):c.62-18G>A	not provided [RCV002149442]	likely benign	1	21560608	21560608	Human		name
152110258	CV1564011	single nucleotide variant	NM_000478.6(ALPL):c.62-10C>G	not provided [RCV002174241]	likely benign	1	21560616	21560616	Human		name
152157328	CV1573191	single nucleotide variant	NM_000478.6(ALPL):c.792+8G>C	not provided [RCV002180305]	likely benign	1	21568255	21568255	Human		name
152102868	CV1579118	single nucleotide variant	NM_000478.6(ALPL):c.862+8G>C	not provided [RCV002079217]	likely benign	1	21570382	21570382	Human		name
152119577	CV1593668	single nucleotide variant	NM_000478.6(ALPL):c.62-11T>C	not provided [RCV002097963]	likely benign	1	21560615	21560615	Human		name
152131762	CV1604618	single nucleotide variant	NM_000478.6(ALPL):c.181+8C>T	not provided [RCV002099585]	likely benign	1	21560753	21560753	Human		name
152140130	CV1608477	single nucleotide variant	NM_000478.6(ALPL):c.863-5C>T	not provided [RCV002200468]	likely benign	1	21573660	21573660	Human		name
152131999	CV1621264	single nucleotide variant	NM_000478.6(ALPL):c.182-4G>T	not provided [RCV002218197]	likely benign	1	21561093	21561093	Human		name
152113076	CV1623804	single nucleotide variant	NM_000478.6(ALPL):c.997+8C>T	not provided [RCV002134740]	likely benign	1	21573807	21573807	Human		name
152074110	CV1638127	single nucleotide variant	NM_000478.6(ALPL):c.473-9G>A	not provided [RCV002192185]	likely benign	1	21564032	21564032	Human		name
152097818	CV1639737	single nucleotide variant	NM_000478.6(ALPL):c.472+7C>T	not provided [RCV002078587]	likely benign	1	21563291	21563291	Human		name
155268962	CV1705786	single nucleotide variant	NM_000478.6(ALPL):c.648+5G>C	Micromelia [RCV002286447]\|not provided [RCV005096051]	uncertain significance	1	21564221	21564221	Human	2	name
156303055	CV1916217	single nucleotide variant	NM_000478.6(ALPL):c.649-3T>C	not provided [RCV002599267]	uncertain significance	1	21568101	21568101	Human		name
156318011	CV1920828	single nucleotide variant	NM_000478.6(ALPL):c.61+10G>A	not provided [RCV002600063]	likely benign	1	21554152	21554152	Human		name
156444367	CV1938226	single nucleotide variant	NM_000478.6(ALPL):c.649-4T>G	not provided [RCV003115291]	likely benign	1	21568100	21568100	Human		name
155930756	CV2035041	single nucleotide variant	NM_000478.6(ALPL):c.61+20T>A	not provided [RCV002751146]	likely benign	1	21554162	21554162	Human		name
156341813	CV2055439	single nucleotide variant	NM_000478.6(ALPL):c.792+1G>C	not provided [RCV002811241]	likely pathogenic	1	21568248	21568248	Human		name
156272907	CV2056057	single nucleotide variant	NM_000478.6(ALPL):c.62-18G>T	not provided [RCV002806727]	likely benign	1	21560608	21560608	Human		name
156303181	CV2070056	single nucleotide variant	NM_000478.6(ALPL):c.792+4G>T	not provided [RCV002833724]	uncertain significance	1	21568251	21568251	Human		name
155986766	CV2070438	single nucleotide variant	NM_000478.6(ALPL):c.649-8T>C	not provided [RCV002842776]	likely benign	1	21568096	21568096	Human		name
155958113	CV2087129	single nucleotide variant	NM_000478.6(ALPL):c.648+8C>T	not provided [RCV002862719]	likely benign	1	21564224	21564224	Human		name
156151587	CV2100322	single nucleotide variant	NM_000478.6(ALPL):c.863-6C>T	not provided [RCV002872337]	likely benign	1	21573659	21573659	Human		name
156107852	CV2149542	single nucleotide variant	NM_000478.6(ALPL):c.61+10G>C	not provided [RCV003021287]	likely benign	1	21554152	21554152	Human		name
11548146	CV249722	single nucleotide variant	NM_000478.6(ALPL):c.863-7T>C	Adult hypophosphatasia [RCV001533618]\|Childhood hypophosphatasia [RCV001533617]\|Hypophosphatasia [RCV000387175]\|Infantile hypophosphatasia [RCV001533616]\|not provided [RCV001516774]\|not specified [RCV000248708]	benign	1	21573658	21573658	Human	4	name
401946652	CV2832889	single nucleotide variant	NM_000478.6(ALPL):c.648+1G>T	Adult hypophosphatasia [RCV003470123]	pathogenic	1	21564217	21564217	Human	1	name
401946295	CV2832993	single nucleotide variant	NM_000478.6(ALPL):c.298-1G>A	Adult hypophosphatasia [RCV003470203]	pathogenic	1	21563109	21563109	Human	1	name
401948640	CV2839346	single nucleotide variant	NM_000478.6(ALPL):c.297+5G>A	Hypophosphatasia [RCV003448902]\|not provided [RCV003661056]	likely pathogenic\|uncertain significance	1	21561217	21561217	Human	1	name
402519416	CV2871022	single nucleotide variant	NM_000478.6(ALPL):c.792+1G>A	not provided [RCV003547643]	likely pathogenic	1	21568248	21568248	Human		name
8563832	CV28717	single nucleotide variant	NM_000478.6(ALPL):c.648+1G>A	ALPL-related disorder [RCV004549368]\|Adult hypophosphatasia [RCV003466858]\|Adult hypophosphatasia [RCV005016264]\|Hypophosphatasia [RCV001553715]\|Inborn genetic diseases [RCV005338073]\|Infantile hypophosphatasia [RCV000710058]\|Perinatal lethal hypophosphatasia [R ... (more) CV000014671]\|not provided [RCV001227927]	pathogenic	1	21564217	21564217	Human	5	name , alternate_id
402519135	CV2906286	single nucleotide variant	NM_000478.6(ALPL):c.61+11G>A	not provided [RCV003575716]	likely benign	1	21554153	21554153	Human		name
405208341	CV2909210	single nucleotide variant	NM_000478.6(ALPL):c.473-1G>A	not provided [RCV003566777]	likely pathogenic	1	21564040	21564040	Human		name
405015187	CV2934027	single nucleotide variant	NM_000478.6(ALPL):c.298-7C>A	not provided [RCV003577082]	likely benign	1	21563103	21563103	Human		name
405143224	CV2945979	single nucleotide variant	NM_000478.6(ALPL):c.62-14C>G	not provided [RCV003669452]	likely benign	1	21560612	21560612	Human		name
405153380	CV2949310	single nucleotide variant	NM_000478.6(ALPL):c.297+7C>G	not provided [RCV003674166]	likely benign	1	21561219	21561219	Human		name
405161935	CV2950355	single nucleotide variant	NM_000478.6(ALPL):c.62-14C>T	not provided [RCV003674698]	likely benign	1	21560612	21560612	Human		name
405232302	CV2965151	single nucleotide variant	NM_000478.6(ALPL):c.792+7T>C	not provided [RCV003682462]	likely benign	1	21568254	21568254	Human		name
405249197	CV2983596	single nucleotide variant	NM_000478.6(ALPL):c.473-4C>T	not provided [RCV003686135]	likely benign	1	21564037	21564037	Human		name
402481920	CV3001218	single nucleotide variant	NM_000478.6(ALPL):c.862+2T>G	not provided [RCV003686680]	likely pathogenic	1	21570376	21570376	Human		name
405221572	CV3056778	single nucleotide variant	NM_000478.6(ALPL):c.862+8G>A	not provided [RCV003733393]	likely benign	1	21570382	21570382	Human		name
405040054	CV3067929	single nucleotide variant	NM_000478.6(ALPL):c.61+16C>A	not provided [RCV003739847]	likely benign	1	21554158	21554158	Human		name
405129794	CV3114946	single nucleotide variant	NM_000478.6(ALPL):c.62-20C>T	not provided [RCV003815791]	likely benign	1	21560606	21560606	Human		name
405182144	CV3120033	single nucleotide variant	NM_000478.6(ALPL):c.473-6C>T	not provided [RCV003820127]	likely benign	1	21564035	21564035	Human		name
405116853	CV3134352	single nucleotide variant	NM_000478.6(ALPL):c.61+19G>A	not provided [RCV003836954]	likely benign	1	21554161	21554161	Human		name
405106314	CV3136101	single nucleotide variant	NM_000478.6(ALPL):c.182-8C>T	not provided [RCV003835447]	likely benign	1	21561089	21561089	Human		name
405251214	CV3181227	single nucleotide variant	NM_000478.6(ALPL):c.298-4G>A	not provided [RCV003870229]	likely benign	1	21563106	21563106	Human		name
402492367	CV3182501	single nucleotide variant	NM_000478.6(ALPL):c.297+6C>T	ALPL-related disorder [RCV004548737]\|Adult hypophosphatasia [RCV005015072]\|not provided [RCV003876988]	likely benign\|uncertain significance	1	21561218	21561218	Human	2	name , alternate_id
408393592	CV3529513	single nucleotide variant	NM_000478.6(ALPL):c.181+1G>T	Adult hypophosphatasia [RCV004776354]	likely pathogenic	1	21560746	21560746	Human	1	name
596920430	CV3534638	single nucleotide variant	NM_000478.6(ALPL):c.62-12C>G	not specified [RCV004782199]	likely benign	1	21560614	21560614	Human		name
12740126	CV357059	single nucleotide variant	NM_000478.6(ALPL):c.297+2T>A	Infantile hypophosphatasia [RCV000411240]	likely pathogenic	1	21561214	21561214	Human	1	name
12739908	CV357066	single nucleotide variant	NM_000478.6(ALPL):c.997+2T>G	Adult hypophosphatasia [RCV005010297]\|Infantile hypophosphatasia [RCV000410728]\|not provided [RCV001214322]	pathogenic\|likely pathogenic	1	21573801	21573801	Human	2	name
12740534	CV357067	single nucleotide variant	NM_000478.6(ALPL):c.998-2A>G	Infantile hypophosphatasia [RCV000412264]\|not provided [RCV003558360]	likely pathogenic	1	21575731	21575731	Human	1	name
597871726	CV3768384	single nucleotide variant	NM_000478.6(ALPL):c.863-3C>T	not provided [RCV005122763]	uncertain significance	1	21573662	21573662	Human		name
597947471	CV3771692	single nucleotide variant	NM_000478.6(ALPL):c.648+8C>G	not provided [RCV005120217]	likely benign	1	21564224	21564224	Human		name
597961450	CV3795161	single nucleotide variant	NM_000478.6(ALPL):c.793-4C>T	not provided [RCV005138853]	likely benign	1	21570301	21570301	Human		name
597854412	CV3806138	single nucleotide variant	NM_000478.6(ALPL):c.297+1G>T	not provided [RCV005145880]	pathogenic	1	21561213	21561213	Human		name
597831468	CV3830791	single nucleotide variant	NM_000478.6(ALPL):c.181+1G>A	not provided [RCV005170189]	likely pathogenic	1	21560746	21560746	Human		name
597889883	CV3839662	single nucleotide variant	NM_000478.6(ALPL):c.472+4A>C	not provided [RCV005179554]	uncertain significance	1	21563288	21563288	Human		name
597926159	CV3840653	single nucleotide variant	NM_000478.6(ALPL):c.181+7C>T	not provided [RCV005185124]	likely benign	1	21560752	21560752	Human		name
598201975	CV3891260	single nucleotide variant	NM_000478.6(ALPL):c.182-1G>A	Hypophosphatasia [RCV005255078]	likely pathogenic	1	21561096	21561096	Human	1	name
616933403	CV4011478	single nucleotide variant	NM_000478.6(ALPL):c.181+2T>C	Hypophosphatasia [RCV005407559]	likely pathogenic	1	21560747	21560747	Human	1	name
13785624	CV540789	single nucleotide variant	NM_000478.6(ALPL):c.862+1G>A	Adult hypophosphatasia [RCV004568522]\|Infantile hypophosphatasia [RCV000669273]	pathogenic\|likely pathogenic	1	21570375	21570375	Human	2	name
13785727	CV540884	single nucleotide variant	NM_000478.6(ALPL):c.997+3A>G	Infantile hypophosphatasia [RCV000672321]	uncertain significance	1	21573802	21573802	Human	1	name
13794435	CV551399	single nucleotide variant	NM_000478.6(ALPL):c.472+5G>C	Decreased circulating alkaline phosphatase activity [RCV000678459]\|not provided [RCV002531392]	pathogenic\|uncertain significance	1	21563289	21563289	Human	2	name
15119251	CV787030	single nucleotide variant	NM_000478.6(ALPL):c.297+9C>A	Adult hypophosphatasia [RCV002488068]\|not provided [RCV000979088]	likely benign	1	21561221	21561221	Human	1	name
15107288	CV787052	single nucleotide variant	NM_000478.6(ALPL):c.297+7C>T	not provided [RCV000976797]	likely benign	1	21561219	21561219	Human		name
26888967	CV850743	single nucleotide variant	NM_000478.6(ALPL):c.997+1G>T	Adult hypophosphatasia [RCV001810492]\|Adult hypophosphatasia [RCV003467795]\|Hypophosphatasia [RCV001732028]\|not provided [RCV001058683]	pathogenic\|likely pathogenic	1	21573800	21573800	Human	2	name
38459310	CV920132	single nucleotide variant	NM_000478.6(ALPL):c.997+2T>A	Adult hypophosphatasia [RCV001195741]\|Hypophosphatasia [RCV001779133]\|Inborn genetic diseases [RCV002560208]\|not provided [RCV001387323]	pathogenic\|likely pathogenic	1	21573801	21573801	Human	3	name
127274518	CV1066824	single nucleotide variant	NM_000478.6(ALPL):c.1309+7C>T	not provided [RCV001406312]	likely benign	1	21576648	21576648	Human		name
127236715	CV1088573	single nucleotide variant	NM_000478.6(ALPL):c.1190-8C>T	not provided [RCV001422580]	likely benign	1	21576514	21576514	Human		name
127308736	CV1109998	single nucleotide variant	NM_000478.6(ALPL):c.298-10C>T	not provided [RCV001456149]	likely benign	1	21563100	21563100	Human		name
127331788	CV1110051	deletion	NM_000478.6(ALPL):c.792+10del	not provided [RCV001471783]	likely benign	1	21568257	21568257	Human		name
127334271	CV1110069	single nucleotide variant	NM_000478.6(ALPL):c.1310-5C>T	Adult hypophosphatasia [RCV002501632]\|not provided [RCV001473480]	likely benign	1	21577378	21577378	Human	1	name
127292573	CV1130945	single nucleotide variant	NM_000478.6(ALPL):c.862+10G>C	not provided [RCV001496519]	likely benign	1	21570384	21570384	Human		name
127320620	CV1130964	single nucleotide variant	NM_000478.6(ALPL):c.1189+9G>T	not provided [RCV001484286]	likely benign	1	21575933	21575933	Human		name
150330339	CV1167072	single nucleotide variant	NM_000478.6(ALPL):c.298-97C>T	Adult hypophosphatasia [RCV001533721]\|Childhood hypophosphatasia [RCV001533670]\|Infantile hypophosphatasia [RCV001533669]\|not provided [RCV001541518]	benign	1	21563013	21563013	Human	3	name
150338836	CV1167073	single nucleotide variant	NM_000478.6(ALPL):c.473-70A>G	Adult hypophosphatasia [RCV001533730]\|Childhood hypophosphatasia [RCV001533729]\|Infantile hypophosphatasia [RCV001533728]\|not provided [RCV001638130]	benign	1	21563971	21563971	Human	3	name
150338758	CV1167074	single nucleotide variant	NM_000478.6(ALPL):c.792+76T>C	Adult hypophosphatasia [RCV001533556]\|Childhood hypophosphatasia [RCV001533555]\|Infantile hypophosphatasia [RCV001533554]\|not provided [RCV001638129]	benign	1	21568323	21568323	Human	3	name
150338760	CV1167075	single nucleotide variant	NM_000478.6(ALPL):c.862+51G>A	Adult hypophosphatasia [RCV001533565]\|Childhood hypophosphatasia [RCV001533564]\|Infantile hypophosphatasia [RCV001533563]\|not provided [RCV001724348]	benign	1	21570425	21570425	Human	3	name
150338762	CV1167076	single nucleotide variant	NM_000478.6(ALPL):c.862+58C>T	Adult hypophosphatasia [RCV001533568]\|Childhood hypophosphatasia [RCV001533567]\|Infantile hypophosphatasia [RCV001533566]\|not provided [RCV001673137]	benign	1	21570432	21570432	Human	3	name
150420100	CV1179176	single nucleotide variant	NM_000478.6(ALPL):c.473-12C>T	Adult hypophosphatasia [RCV002506656]\|not provided [RCV001551380]	benign\|likely benign	1	21564029	21564029	Human	1	name
150408448	CV1189536	single nucleotide variant	NM_000478.6(ALPL):c.-104-5T>C	Adult hypophosphatasia [RCV002476866]\|not provided [RCV001565319]	likely benign	1	21553973	21553973	Human	1	name
150410383	CV1189537	single nucleotide variant	NM_000478.6(ALPL):c.61+121T>A	not provided [RCV001566021]	likely benign	1	21554263	21554263	Human		name
150406173	CV1189538	single nucleotide variant	NM_000478.6(ALPL):c.297+92C>A	not provided [RCV001564616]	likely benign	1	21561304	21561304	Human		name
150421214	CV1192766	single nucleotide variant	NM_000478.6(ALPL):c.298-42C>A	not provided [RCV001570448]	likely benign	1	21563068	21563068	Human		name
150418040	CV1192768	single nucleotide variant	NM_000478.6(ALPL):c.862+28G>A	not provided [RCV001569034]	likely benign	1	21570402	21570402	Human		name
150442578	CV1204730	single nucleotide variant	NM_000478.6(ALPL):c.863-53C>A	not provided [RCV001583837]	likely benign	1	21573612	21573612	Human		name
150475269	CV1217923	single nucleotide variant	NM_000478.6(ALPL):c.62-300C>T	not provided [RCV001615934]	benign	1	21560326	21560326	Human		name
150453630	CV1231853	single nucleotide variant	NM_000478.6(ALPL):c.181+52C>A	not provided [RCV001648160]	benign	1	21560797	21560797	Human		name
151351215	CV1321138	single nucleotide variant	NM_000478.6(ALPL):c.863-15T>C	Adult hypophosphatasia [RCV002489850]\|not provided [RCV001810796]	likely benign	1	21573650	21573650	Human	1	name
151763797	CV1462158	deletion	NM_000478.6(ALPL):c.1189+5del	Adult hypophosphatasia [RCV003471209]\|Adult hypophosphatasia [RCV005016974]\|not provided [RCV001970485]	likely pathogenic\|conflicting interpretations of pathogenicity	1	21575928	21575928	Human	1	name
152141298	CV1526482	single nucleotide variant	NM_000478.6(ALPL):c.998-10G>A	not provided [RCV002084191]	likely benign	1	21575723	21575723	Human		name
152111430	CV1551434	single nucleotide variant	NM_000478.6(ALPL):c.473-19C>T	not provided [RCV002196827]	likely benign	1	21564022	21564022	Human		name
152175991	CV1562131	single nucleotide variant	NM_000478.6(ALPL):c.997+10C>G	not provided [RCV002164131]	likely benign	1	21573809	21573809	Human		name
152174689	CV1567454	single nucleotide variant	NM_000478.6(ALPL):c.997+20T>C	not provided [RCV002163242]	likely benign	1	21573819	21573819	Human		name
152085479	CV1573727	single nucleotide variant	NM_000478.6(ALPL):c.1189+9G>C	not provided [RCV002149867]	likely benign	1	21575933	21575933	Human		name
152064137	CV1575314	single nucleotide variant	NM_000478.6(ALPL):c.997+19C>A	not provided [RCV002110522]	likely benign	1	21573818	21573818	Human		name
152175298	CV1586320	single nucleotide variant	NM_000478.6(ALPL):c.863-20C>T	not provided [RCV002184826]	likely benign	1	21573645	21573645	Human		name
152036596	CV1609857	single nucleotide variant	NM_000478.6(ALPL):c.648+20C>T	not provided [RCV002165046]	likely benign	1	21564236	21564236	Human		name
152126811	CV1614925	single nucleotide variant	NM_000478.6(ALPL):c.862+11G>T	not provided [RCV002082326]	likely benign	1	21570385	21570385	Human		name
152053056	CV1619245	single nucleotide variant	NM_000478.6(ALPL):c.862+19G>A	not provided [RCV002167111]	likely benign	1	21570393	21570393	Human		name
152155402	CV1620376	single nucleotide variant	NM_000478.6(ALPL):c.472+15C>G	not provided [RCV002122344]	likely benign	1	21563299	21563299	Human		name
152150352	CV1625746	single nucleotide variant	NM_000478.6(ALPL):c.792+20T>C	not provided [RCV002139421]	likely benign	1	21568267	21568267	Human		name
152071294	CV1628614	single nucleotide variant	NM_000478.6(ALPL):c.862+14G>T	not provided [RCV002169325]	likely benign	1	21570388	21570388	Human		name
152104708	CV1645488	single nucleotide variant	NM_000478.6(ALPL):c.473-18G>A	not provided [RCV002133700]	likely benign	1	21564023	21564023	Human		name
152028514	CV1655271	single nucleotide variant	NM_000478.6(ALPL):c.997+14G>C	not provided [RCV002105260]	likely benign	1	21573813	21573813	Human		name
156351805	CV1883198	single nucleotide variant	NM_000478.6(ALPL):c.792+13G>C	not provided [RCV003091035]	likely benign	1	21568260	21568260	Human		name
156415709	CV1987444	single nucleotide variant	NM_000478.6(ALPL):c.862+12G>A	not provided [RCV002609796]	likely benign	1	21570386	21570386	Human		name
156084642	CV1993034	single nucleotide variant	NM_000478.6(ALPL):c.648+14G>A	not provided [RCV002639013]	likely benign	1	21564230	21564230	Human		name
156110645	CV1996999	single nucleotide variant	NM_000478.6(ALPL):c.792+19A>G	not provided [RCV002662475]	likely benign	1	21568266	21568266	Human		name
156310532	CV2076256	single nucleotide variant	NM_000478.6(ALPL):c.998-10G>C	not provided [RCV002857635]	likely benign	1	21575723	21575723	Human		name
156250140	CV2169048	single nucleotide variant	NM_000478.6(ALPL):c.648+10C>A	not provided [RCV003026310]	likely benign	1	21564226	21564226	Human		name
156010392	CV2170429	single nucleotide variant	NM_000478.6(ALPL):c.793-16C>T	not provided [RCV003017710]	likely benign	1	21570289	21570289	Human		name
11546435	CV249716	single nucleotide variant	NM_000478.6(ALPL):c.792+45G>T	Adult hypophosphatasia [RCV001533736]\|Childhood hypophosphatasia [RCV001533735]\|Infantile hypophosphatasia [RCV001533734]\|not provided [RCV001610574]\|not specified [RCV000246456]	benign	1	21568292	21568292	Human	3	name
11550311	CV249717	single nucleotide variant	NM_000478.6(ALPL):c.793-31C>T	Adult hypophosphatasia [RCV001533559]\|Childhood hypophosphatasia [RCV001533558]\|Infantile hypophosphatasia [RCV001533557]\|not provided [RCV001610575]\|not specified [RCV000251589]	benign	1	21570274	21570274	Human	7	name
11550311	CV249717	single nucleotide variant	NM_000478.6(ALPL):c.793-31C>T	Adult hypophosphatasia [RCV001533559]\|Childhood hypophosphatasia [RCV001533558]\|Infantile hypophosphatasia [RCV001533557]\|not provided [RCV001610575]\|not specified [RCV000251589]	benign	1	21570274	21570275	Human	7	name
11544150	CV249718	single nucleotide variant	NM_000478.6(ALPL):c.862+20G>T	Adult hypophosphatasia [RCV001533562]\|Childhood hypophosphatasia [RCV001533561]\|Infantile hypophosphatasia [RCV001533560]\|not provided [RCV001519508]\|not specified [RCV000243400]	benign	1	21570394	21570394	Human	3	name
11544540	CV249719	single nucleotide variant	NM_000478.6(ALPL):c.863-46G>A	Adult hypophosphatasia [RCV001533612]\|Childhood hypophosphatasia [RCV001533611]\|Infantile hypophosphatasia [RCV001533569]\|not provided [RCV001689797]\|not specified [RCV000243931]	benign	1	21573619	21573619	Human	3	name
11550421	CV249720	single nucleotide variant	NM_000478.6(ALPL):c.863-15T>A	not specified [RCV000251734]	likely benign	1	21573650	21573650	Human		name
11546802	CV249721	single nucleotide variant	NM_000478.6(ALPL):c.863-12C>G	Adult hypophosphatasia [RCV001533615]\|Childhood hypophosphatasia [RCV001533614]\|Hypophosphatasia [RCV000318779]\|Infantile hypophosphatasia [RCV001533613]\|not provided [RCV001523593]\|not specified [RCV000246935]	benign	1	21573653	21573653	Human	4	name
11659752	CV280378	deletion	NM_000478.6(ALPL):c.472+12del	Hypophosphatasia [RCV000361110]\|not provided [RCV000586887]\|not specified [RCV001529985]	benign\|likely benign	1	21563292	21563292	Human	1	name
11580453	CV280390	single nucleotide variant	NM_000478.6(ALPL):c.997+11C>T	Hypophosphatasia [RCV000333762]\|not provided [RCV001530796]	benign\|likely benign	1	21573810	21573810	Human	1	name
401925153	CV2805274	single nucleotide variant	NM_000478.6(ALPL):c.182-18C>T	not provided [RCV003778361]\|not specified [RCV003405095]	likely benign	1	21561079	21561079	Human		name
402492269	CV2863193	single nucleotide variant	NM_000478.6(ALPL):c.1309+8C>A	not provided [RCV003573134]	likely benign	1	21576649	21576649	Human		name
402490534	CV2867182	single nucleotide variant	NM_000478.6(ALPL):c.1310-2A>C	not provided [RCV003544899]	uncertain significance	1	21577381	21577381	Human		name
405171700	CV2897554	single nucleotide variant	NM_000478.6(ALPL):c.181+15C>A	not provided [RCV003563177]	likely benign	1	21560760	21560760	Human		name
405161559	CV2899482	single nucleotide variant	NM_000478.6(ALPL):c.648+20C>G	not provided [RCV003562434]	likely benign	1	21564236	21564236	Human		name
405233244	CV2906408	single nucleotide variant	NM_000478.6(ALPL):c.648+15G>A	not provided [RCV003555776]	likely benign	1	21564231	21564231	Human		name
405069561	CV2933248	deletion	NM_000478.6(ALPL):c.648+15del	not provided [RCV003581032]	benign	1	21564227	21564227	Human		name
402522919	CV2940311	single nucleotide variant	NM_000478.6(ALPL):c.648+19C>T	not provided [RCV003663442]	likely benign	1	21564235	21564235	Human		name
402507576	CV2944398	deletion	NM_000478.6(ALPL):c.998-10del	not provided [RCV003662170]	likely benign	1	21575722	21575722	Human		name
405159924	CV2950218	single nucleotide variant	NM_000478.6(ALPL):c.1190-3C>T	not provided [RCV003674609]	uncertain significance	1	21576519	21576519	Human		name
405134444	CV2955610	single nucleotide variant	NM_000478.6(ALPL):c.473-20C>T	not provided [RCV003668666]	likely benign	1	21564021	21564021	Human		name
405150621	CV2957011	single nucleotide variant	NM_000478.6(ALPL):c.649-14C>T	not provided [RCV003670031]	likely benign	1	21568090	21568090	Human		name
405149853	CV2959528	single nucleotide variant	NM_000478.6(ALPL):c.473-16C>T	not provided [RCV003673858]	likely benign	1	21564025	21564025	Human		name
405231311	CV2964615	single nucleotide variant	NM_000478.6(ALPL):c.297+16A>G	not provided [RCV003682303]	likely benign	1	21561228	21561228	Human		name
405236013	CV2973294	single nucleotide variant	NM_000478.6(ALPL):c.793-10T>A	not provided [RCV003683094]	likely benign	1	21570295	21570295	Human		name
404982844	CV2979576	single nucleotide variant	NM_000478.6(ALPL):c.793-17A>G	not provided [RCV003691486]	likely benign	1	21570288	21570288	Human		name
405249962	CV2997146	single nucleotide variant	NM_000478.6(ALPL):c.298-18C>T	not provided [RCV003721487]	likely benign	1	21563092	21563092	Human		name
405004399	CV3016499	single nucleotide variant	NM_000478.6(ALPL):c.298-20C>T	not provided [RCV003693464]	likely benign	1	21563090	21563090	Human		name
405056282	CV3023351	single nucleotide variant	NM_000478.6(ALPL):c.649-10T>A	not provided [RCV003697361]	likely benign	1	21568094	21568094	Human		name
405136434	CV3028704	single nucleotide variant	NM_000478.6(ALPL):c.648+14G>T	not provided [RCV003702141]	likely benign	1	21564230	21564230	Human		name
405243953	CV3054038	single nucleotide variant	NM_000478.6(ALPL):c.863-11G>T	not provided [RCV003719860]	likely benign	1	21573654	21573654	Human		name
405155532	CV3064791	single nucleotide variant	NM_000478.6(ALPL):c.863-17C>T	not provided [RCV003726719]	likely benign	1	21573648	21573648	Human		name
405228712	CV3065912	single nucleotide variant	NM_000478.6(ALPL):c.298-15C>T	not provided [RCV003734517]	likely benign	1	21563095	21563095	Human		name
405147214	CV3067334	single nucleotide variant	NM_000478.6(ALPL):c.863-12C>T	not provided [RCV003726148]	likely benign	1	21573653	21573653	Human		name
405205730	CV3068092	single nucleotide variant	NM_000478.6(ALPL):c.863-11G>A	not provided [RCV003731238]	likely benign	1	21573654	21573654	Human		name
405242300	CV3070476	single nucleotide variant	NM_000478.6(ALPL):c.997+12G>A	not provided [RCV003737426]	likely benign	1	21573811	21573811	Human		name
405235392	CV3079344	single nucleotide variant	NM_000478.6(ALPL):c.182-14A>G	not provided [RCV003735799]	likely benign	1	21561083	21561083	Human		name
405237342	CV3080758	single nucleotide variant	NM_000478.6(ALPL):c.182-19C>G	not provided [RCV003736093]	likely benign	1	21561078	21561078	Human		name
404980945	CV3121010	single nucleotide variant	NM_000478.6(ALPL):c.648+11G>A	not provided [RCV003826002]	likely benign	1	21564227	21564227	Human		name
405085033	CV3121886	single nucleotide variant	NM_000478.6(ALPL):c.997+13G>T	not provided [RCV003810640]	likely benign	1	21573812	21573812	Human		name
405087760	CV3122185	single nucleotide variant	NM_000478.6(ALPL):c.297+15C>T	not provided [RCV003810940]	likely benign	1	21561227	21561227	Human		name
404979614	CV3127746	single nucleotide variant	NM_000478.6(ALPL):c.997+16C>G	not provided [RCV003825778]	likely benign	1	21573815	21573815	Human		name
405063683	CV3129569	single nucleotide variant	NM_000478.6(ALPL):c.181+18G>A	not provided [RCV003832838]	likely benign	1	21560763	21560763	Human		name
405114837	CV3134128	single nucleotide variant	NM_000478.6(ALPL):c.862+11G>A	not provided [RCV003836730]	likely benign	1	21570385	21570385	Human		name
405195234	CV3146485	single nucleotide variant	NM_000478.6(ALPL):c.862+13G>T	not provided [RCV003843840]	likely benign	1	21570387	21570387	Human		name
405173604	CV3150479	single nucleotide variant	NM_000478.6(ALPL):c.473-16C>A	not provided [RCV003841753]	likely benign	1	21564025	21564025	Human		name
405234131	CV3155452	single nucleotide variant	NM_000478.6(ALPL):c.793-15A>G	not provided [RCV003853430]	likely benign	1	21570290	21570290	Human		name
402510970	CV3178344	single nucleotide variant	NM_000478.6(ALPL):c.1309+5G>A	not provided [RCV003878961]	likely pathogenic\|uncertain significance	1	21576646	21576646	Human		name
402489483	CV3182303	single nucleotide variant	NM_000478.6(ALPL):c.472+14G>A	not provided [RCV003876789]	likely benign	1	21563298	21563298	Human		name
402489708	CV3182327	single nucleotide variant	NM_000478.6(ALPL):c.473-15C>A	not provided [RCV003876813]	likely benign	1	21564026	21564026	Human		name
405259462	CV3194755	single nucleotide variant	NM_000478.6(ALPL):c.793-30G>A	ALPL-related disorder [RCV004548864]	likely benign	1	21570275	21570275	Human		name , trait , alternate_id
597870164	CV3768127	single nucleotide variant	NM_000478.6(ALPL):c.181+15C>T	not provided [RCV005122506]	likely benign	1	21560760	21560760	Human		name
597872080	CV3805251	single nucleotide variant	NM_000478.6(ALPL):c.472+20G>A	not provided [RCV005148529]	likely benign	1	21563304	21563304	Human		name
597832922	CV3831401	single nucleotide variant	NM_000478.6(ALPL):c.862+17G>C	not provided [RCV005170604]	likely benign	1	21570391	21570391	Human		name
12912013	CV417650	single nucleotide variant	NM_000478.6(ALPL):c.793-10T>C	Decreased circulating alkaline phosphatase activity [RCV000490736]\|not provided [RCV003565424]	likely benign\|uncertain significance	1	21570295	21570295	Human	2	name
13436846	CV433359	deletion	NM_000478.5(ALPL):c.472+8delG	not specified [RCV000507872]	benign	1	21563292	21563292	Human		name
13785516	CV540868	single nucleotide variant	NM_000478.6(ALPL):c.649-11G>C	Infantile hypophosphatasia [RCV000664887]\|not provided [RCV002060807]\|not specified [RCV005240420]	likely benign\|uncertain significance	1	21568093	21568093	Human	1	name
15113446	CV786989	single nucleotide variant	NM_000478.6(ALPL):c.648+10C>T	not provided [RCV000978021]	likely benign	1	21564226	21564226	Human		name
38597958	CV964645	single nucleotide variant	NM_000478.6(ALPL):c.1190-2A>T	Adult hypophosphatasia [RCV001253274]	pathogenic	1	21576520	21576520	Human	1	name
41405150	CV981281	single nucleotide variant	NM_000478.6(ALPL):c.182-15C>G	Adult hypophosphatasia [RCV002499493]\|not provided [RCV001812428]	benign\|likely benign	1	21561082	21561082	Human	1	name
150335751	CV1164858	single nucleotide variant	NM_000478.6(ALPL):c.863-279G>A	not provided [RCV001530540]	likely benign	1	21573386	21573386	Human		name
150338797	CV1167077	single nucleotide variant	NM_000478.6(ALPL):c.1190-65C>A	Adult hypophosphatasia [RCV001533624]\|Childhood hypophosphatasia [RCV001533623]\|Infantile hypophosphatasia [RCV001533622]\|not provided [RCV001655824]	benign	1	21576457	21576457	Human	6	name
150333666	CV1170665	deletion	NM_000478.6(ALPL):c.863-201del	not provided [RCV001539606]	benign	1	21573460	21573460	Human		name
150404717	CV1178860	single nucleotide variant	NM_000478.6(ALPL):c.473-148G>A	Childhood hypophosphatasia [RCV001549123]\|not provided [RCV001676055]	benign	1	21563893	21563893	Human	1	name
150417873	CV1179175	single nucleotide variant	NM_000478.6(ALPL):c.473-220G>A	not provided [RCV001550343]	likely benign	1	21563821	21563821	Human		name
150425691	CV1182845	single nucleotide variant	NM_000478.6(ALPL):c.648+295T>G	not provided [RCV001558343]	likely benign	1	21564511	21564511	Human		name
150499275	CV1209055	single nucleotide variant	NM_000478.6(ALPL):c.298-147G>A	not provided [RCV001594273]	likely benign	1	21562963	21562963	Human		name
150481265	CV1209759	single nucleotide variant	NM_000478.6(ALPL):c.649-256G>A	not provided [RCV001590456]	likely benign	1	21567848	21567848	Human		name
150490611	CV1210228	single nucleotide variant	NM_000478.6(ALPL):c.998-286G>A	not provided [RCV001592510]	likely benign	1	21575447	21575447	Human		name
150511229	CV1212676	single nucleotide variant	NM_000478.6(ALPL):c.1310-92A>G	not provided [RCV001597907]	benign	1	21577291	21577291	Human		name
150509175	CV1214234	single nucleotide variant	NM_000478.6(ALPL):c.472+122A>G	not provided [RCV001596755]	benign	1	21563406	21563406	Human		name
150476251	CV1216784	single nucleotide variant	NM_000478.6(ALPL):c.997+105G>T	not provided [RCV001616077]	benign	1	21573904	21573904	Human		name
150471981	CV1217109	single nucleotide variant	NM_000478.6(ALPL):c.298-263A>G	not provided [RCV001615404]	benign	1	21562847	21562847	Human		name
150468196	CV1218881	single nucleotide variant	NM_000478.6(ALPL):c.997+152A>G	not provided [RCV001614633]	benign	1	21573951	21573951	Human		name
150499892	CV1224679	single nucleotide variant	NM_000478.6(ALPL):c.298-222G>A	not provided [RCV001620511]	benign	1	21562888	21562888	Human		name
150515752	CV1227657	single nucleotide variant	NM_000478.6(ALPL):c.863-231C>G	not provided [RCV001638931]	benign	1	21573434	21573434	Human		name
150514349	CV1228176	single nucleotide variant	NM_000478.6(ALPL):c.997+128A>G	not provided [RCV001638454]	benign	1	21573927	21573927	Human		name
150452713	CV1231740	single nucleotide variant	NM_000478.6(ALPL):c.862+262T>C	not provided [RCV001648047]	benign	1	21570636	21570636	Human		name
150442576	CV1233721	single nucleotide variant	NM_000478.6(ALPL):c.997+167A>C	not provided [RCV001645409]	benign	1	21573966	21573966	Human		name
150436249	CV1234032	single nucleotide variant	NM_000478.6(ALPL):c.649-290T>C	not provided [RCV001644159]	benign	1	21567814	21567814	Human		name
150436307	CV1234042	single nucleotide variant	NM_000478.6(ALPL):c.997+291A>G	not provided [RCV001644169]	benign	1	21574090	21574090	Human		name
150488942	CV1237560	single nucleotide variant	NM_000478.6(ALPL):c.998-288G>A	not provided [RCV001654409]	benign	1	21575445	21575445	Human		name
150492586	CV1238507	single nucleotide variant	NM_000478.6(ALPL):c.648+147C>T	not provided [RCV001655051]	benign	1	21564363	21564363	Human		name
150436314	CV1249675	single nucleotide variant	NM_000478.6(ALPL):c.792+255G>C	not provided [RCV001665589]	benign	1	21568502	21568502	Human		name
150500545	CV1256119	single nucleotide variant	NM_000478.6(ALPL):c.792+268C>T	not provided [RCV001676743]	benign	1	21568515	21568515	Human		name
150465934	CV1257274	single nucleotide variant	NM_000478.6(ALPL):c.1310-85C>G	not provided [RCV001670289]	benign	1	21577298	21577298	Human		name
150456337	CV1259998	single nucleotide variant	NM_000478.6(ALPL):c.792+321T>C	not provided [RCV001681477]	benign	1	21568568	21568568	Human		name
150445615	CV1261228	single nucleotide variant	NM_000478.6(ALPL):c.862+270G>C	not provided [RCV001679902]	benign	1	21570644	21570644	Human		name
150494631	CV1267385	duplication	NM_000478.6(ALPL):c.863-217dup	not provided [RCV001688413]	benign	1	21573436	21573437	Human		name
150468583	CV1267955	single nucleotide variant	NM_000478.6(ALPL):c.997+297C>T	not provided [RCV001694818]	benign	1	21574096	21574096	Human		name
150466405	CV1268767	single nucleotide variant	NM_000478.6(ALPL):c.997+104A>C	not provided [RCV001694464]	benign	1	21573903	21573903	Human		name
150498969	CV1270742	single nucleotide variant	NM_000478.6(ALPL):c.182-144T>C	not provided [RCV001689291]	benign	1	21560953	21560953	Human		name
150481481	CV1279761	single nucleotide variant	NM_000478.6(ALPL):c.792+207C>T	not provided [RCV001714854]	benign	1	21568454	21568454	Human		name
150442080	CV1287666	single nucleotide variant	NM_000478.6(ALPL):c.792+208G>A	not provided [RCV001725386]	benign	1	21568455	21568455	Human		name
152099754	CV1578640	single nucleotide variant	NM_000478.6(ALPL):c.1190-13C>G	not provided [RCV002151664]	likely benign	1	21576509	21576509	Human		name
152088395	CV1638901	single nucleotide variant	NM_000478.6(ALPL):c.1189+11C>T	Adult hypophosphatasia [RCV002480971]\|not provided [RCV002150264]	likely benign	1	21575935	21575935	Human	1	name
152034505	CV1639485	single nucleotide variant	NM_000478.6(ALPL):c.1310-11C>T	not provided [RCV002187269]	likely benign	1	21577372	21577372	Human		name
152049102	CV1656986	deletion	NM_000478.6(ALPL):c.1310-10del	not provided [RCV002189177]	likely benign	1	21577373	21577373	Human		name
152067377	CV1660094	single nucleotide variant	NM_000478.6(ALPL):c.1190-18C>T	not provided [RCV002147614]	likely benign	1	21576504	21576504	Human		name
155963102	CV1881809	microsatellite	NM_000478.6(ALPL):c.62-16CT[2]	Adult hypophosphatasia [RCV005019638]\|not provided [RCV003074793]	likely benign\|uncertain significance	1	21560610	21560613	Human		name
156083218	CV1893767	single nucleotide variant	NM_000478.6(ALPL):c.1309+15A>G	not provided [RCV003079941]	likely benign	1	21576656	21576656	Human		name
156364592	CV1895659	single nucleotide variant	NM_000478.6(ALPL):c.1310-13C>T	not provided [RCV003091960]	likely benign	1	21577370	21577370	Human		name
156400069	CV1897513	single nucleotide variant	NM_000478.6(ALPL):c.1190-16C>A	not provided [RCV002584778]	likely benign	1	21576506	21576506	Human		name
156379028	CV1927364	deletion	NM_000478.6(ALPL):c.1189+17del	not provided [RCV002634116]	benign	1	21575939	21575939	Human		name
156379043	CV1927365	single nucleotide variant	NM_000478.6(ALPL):c.1189+16T>C	not provided [RCV002634117]	benign	1	21575940	21575940	Human		name
156441551	CV1944214	single nucleotide variant	NM_000478.6(ALPL):c.1310-15T>G	not provided [RCV003111878]	likely benign	1	21577368	21577368	Human		name
155971232	CV2077222	single nucleotide variant	NM_000478.6(ALPL):c.1190-10C>T	not provided [RCV002863325]	likely benign	1	21576512	21576512	Human		name
156015327	CV2134163	single nucleotide variant	NM_000478.6(ALPL):c.1309+12A>G	not provided [RCV003017960]	likely benign	1	21576653	21576653	Human		name
11549632	CV249724	single nucleotide variant	NM_000478.6(ALPL):c.1189+19G>T	Infantile hypophosphatasia [RCV000671597]\|not provided [RCV001513493]\|not specified [RCV000250665]	benign\|likely benign	1	21575943	21575943	Human	1	name
11552001	CV249725	single nucleotide variant	NM_000478.6(ALPL):c.1309+46C>T	Adult hypophosphatasia [RCV001533671]\|Childhood hypophosphatasia [RCV001533626]\|Infantile hypophosphatasia [RCV001533625]\|not provided [RCV001668431]\|not specified [RCV000253791]	benign	1	21576687	21576687	Human	3	name
405053129	CV2893780	single nucleotide variant	NM_000478.6(ALPL):c.1310-20G>C	not provided [RCV003579934]	likely benign	1	21577363	21577363	Human		name
405169942	CV2911881	single nucleotide variant	NM_000478.6(ALPL):c.1309+20G>T	not provided [RCV003563038]	likely benign	1	21576661	21576661	Human		name
405216217	CV2972025	single nucleotide variant	NM_000478.6(ALPL):c.1189+12T>C	not provided [RCV003680057]	likely benign	1	21575936	21575936	Human		name
405167673	CV3019101	single nucleotide variant	NM_000478.6(ALPL):c.1309+18C>T	not provided [RCV003704436]	likely benign	1	21576659	21576659	Human		name
405145758	CV3023915	single nucleotide variant	NM_000478.6(ALPL):c.1310-17T>C	not provided [RCV003702917]	likely benign	1	21577366	21577366	Human		name
405156803	CV3028125	single nucleotide variant	NM_000478.6(ALPL):c.1190-12C>T	not provided [RCV003703610]	likely benign	1	21576510	21576510	Human		name
405203015	CV3052800	single nucleotide variant	NM_000478.6(ALPL):c.1190-10C>G	not provided [RCV003730976]	likely benign	1	21576512	21576512	Human		name
405095564	CV3135005	microsatellite	NM_000478.6(ALPL):c.62-16CT[3]	not provided [RCV003835157]	likely benign	1	21560610	21560611	Human		name
405093766	CV3164073	single nucleotide variant	NM_000478.6(ALPL):c.1189+11C>A	not provided [RCV003852388]	likely benign	1	21575935	21575935	Human		name
597627953	CV3711949	single nucleotide variant	NM_000478.6(ALPL):c.1189+18G>A	Adult hypophosphatasia [RCV005022477]	uncertain significance	1	21575942	21575942	Human	1	name
597912771	CV3745749	single nucleotide variant	NM_000478.6(ALPL):c.1310-19T>C	not provided [RCV005073750]	likely benign	1	21577364	21577364	Human		name
597936255	CV3845404	single nucleotide variant	NM_000478.6(ALPL):c.1310-14C>A	not provided [RCV005186717]	likely benign	1	21577369	21577369	Human		name
13462266	CV439924	single nucleotide variant	NM_000478.6(ALPL):c.1309+13G>A	Decreased circulating alkaline phosphatase activity [RCV000515706]	uncertain significance	1	21576654	21576654	Human	2	name
41405487	CV981284	single nucleotide variant	NM_000478.6(ALPL):c.1190-15C>A	not provided [RCV001813022]	likely benign	1	21576507	21576507	Human		name
150422787	CV1179180	single nucleotide variant	NM_000478.6(ALPL):c.1310-239A>C	not provided [RCV001553115]	likely benign	1	21577144	21577144	Human		name
150426420	CV1186115	single nucleotide variant	NM_000478.6(ALPL):c.1309+240C>T	not provided [RCV001559561]	likely benign	1	21576881	21576881	Human		name
150489691	CV1208489	microsatellite	NM_000478.6(ALPL):c.61+184AT[8]	not provided [RCV001592350]	likely benign	1	21554325	21554326	Human		name
150451779	CV1232846	deletion	NM_000478.6(ALPL):c.1190-260del	not provided [RCV001647921]	benign	1	21576261	21576261	Human		name
150435911	CV1233981	deletion	NM_000478.6(ALPL):c.1190-256del	not provided [RCV001644108]	benign	1	21576265	21576265	Human		name
150431417	CV1243689	microsatellite	NM_000478.6(ALPL):c.61+184AT[9]	not provided [RCV001663309]	benign	1	21554325	21554326	Human		name
150427198	CV1186109	microsatellite	NM_000478.6(ALPL):c.61+184AT[11]	not provided [RCV001560613]	likely benign	1	21554325	21554326	Human		name
155645639	CV1708997	duplication	NM_000478.6(ALPL):c.182-2_200dup	not provided [RCV002291873]	uncertain significance	1	21561094	21561095	Human		name
156372818	CV1920991	microsatellite	NM_000478.6(ALPL):c.62-6_62-5del	not provided [RCV002603322]	likely benign	1	21560617	21560618	Human		name
152100248	CV1578713	single nucleotide variant	NM_000478.6(ALPL):c.9A>T (p.Ser3=)	not provided [RCV002151724]	likely benign	1	21554090	21554090	Human		name
156386260	CV1979779	microsatellite	NM_000478.6(ALPL):c.863-5_863-3del	not provided [RCV002604315]	likely benign	1	21573655	21573657	Human		name
156285921	CV2061793	deletion	NM_000478.6(ALPL):c.863-147_884del	not provided [RCV002833006]	pathogenic	1	21573518	21573686	Human		name
405000121	CV3008984	deletion	NM_000478.6(ALPL):c.649-4_649-3del	not provided [RCV003693010]	likely benign	1	21568098	21568099	Human		name
597832778	CV3760294	duplication	NM_000478.6(ALPL):c.648+1_648+8dup	not provided [RCV005085037]	uncertain significance	1	21564215	21564216	Human		name
13533312	CV498206	duplication	NM_000478.6(ALPL):c.182-5_182-3dup	not specified [RCV000607048]	likely benign	1	21561090	21561091	Human		name
150337347	CV1170666	microsatellite	NM_000478.6(ALPL):c.1190-234TGGA[3]	not provided [RCV001541588]	benign	1	21576288	21576291	Human		name
150415089	CV1196539	microsatellite	NM_000478.6(ALPL):c.1189+295GATG[8]	not provided [RCV001575242]	likely benign	1	21576219	21576222	Human		name
152093329	CV1598675	single nucleotide variant	NM_000478.6(ALPL):c.22C>T (p.Leu8=)	not provided [RCV002172119]	likely benign	1	21554103	21554103	Human		name
402473963	CV2858003	single nucleotide variant	NM_000478.6(ALPL):c.24G>A (p.Leu8=)	not provided [RCV003543054]	likely benign	1	21554105	21554105	Human		name
597870155	CV3768126	deletion	NM_000478.6(ALPL):c.181+3_181+14del	not provided [RCV005122505]	uncertain significance	1	21560748	21560759	Human		name
597913822	CV3778764	single nucleotide variant	NM_000478.6(ALPL):c.27C>T (p.Ala9=)	not provided [RCV005129109]	likely benign	1	21554108	21554108	Human		name
127307926	CV1109990	single nucleotide variant	NM_000478.6(ALPL):c.69G>A (p.Glu23=)	not provided [RCV001463199]	likely benign	1	21560633	21560633	Human		name
127334775	CV1130893	single nucleotide variant	NM_000478.6(ALPL):c.99G>T (p.Ala33=)	not provided [RCV001491100]	likely benign	1	21560663	21560663	Human		name
150422377	CV1179179	microsatellite	NM_000478.6(ALPL):c.1189+295GATG[11]	not provided [RCV001552553]	likely benign	1	21576218	21576219	Human		name
150493880	CV1238757	microsatellite	NM_000478.6(ALPL):c.1189+295GATG[12]	not provided [RCV001655301]	benign	1	21576218	21576219	Human		name
151782680	CV1342038	single nucleotide variant	NM_000478.6(ALPL):c.1A>G (p.Met1Val)	Adult hypophosphatasia [RCV005016734]\|not provided [RCV001897390]	pathogenic\|likely pathogenic	1	21554082	21554082	Human	1	name
152050396	CV1533112	single nucleotide variant	NM_000478.6(ALPL):c.93C>T (p.Asp31=)	not provided [RCV002166803]	likely benign	1	21560657	21560657	Human		name
156284345	CV1964518	deletion	NM_000478.6(ALPL):c.472+18_472+27del	not provided [RCV002577583]	likely benign	1	21563293	21563302	Human		name
156115102	CV2015637	single nucleotide variant	NM_000478.6(ALPL):c.78C>T (p.Pro26=)	not provided [RCV002695819]	likely benign	1	21560642	21560642	Human		name
156238632	CV2109011	single nucleotide variant	NM_000478.6(ALPL):c.51C>G (p.Ser17=)	not provided [RCV002933118]	likely benign	1	21554132	21554132	Human		name
401947103	CV2832445	deletion	NM_000478.6(ALPL):c.793-30_793-11del	Hypophosphatasia [RCV003447850]	likely pathogenic	1	21570272	21570291	Human	1	name
402512941	CV2858959	single nucleotide variant	NM_000478.6(ALPL):c.3G>C (p.Met1Ile)	not provided [RCV003547080]	pathogenic	1	21554084	21554084	Human		name
405203571	CV2986140	single nucleotide variant	NM_000478.6(ALPL):c.45T>C (p.Thr15=)	not provided [RCV003678447]	likely benign	1	21554126	21554126	Human		name
405242652	CV3042936	deletion	NM_000478.6(ALPL):c.472+21_472+22del	not provided [RCV003719548]	likely benign	1	21563303	21563304	Human		name
405088438	CV3134051	deletion	NM_000478.6(ALPL):c.863-22_863-12del	not provided [RCV003834589]	likely benign	1	21573642	21573652	Human		name
405249848	CV3180564	microsatellite	NM_000478.6(ALPL):c.793-16_793-15del	not provided [RCV003869841]	uncertain significance	1	21570286	21570287	Human		name
597911873	CV3807025	single nucleotide variant	NM_000478.6(ALPL):c.2T>C (p.Met1Thr)	not provided [RCV005154396]	pathogenic	1	21554083	21554083	Human		name
13533368	CV498176	single nucleotide variant	NM_000478.6(ALPL):c.330= (p.Ser110=)	not provided [RCV000710513]\|not specified [RCV000607070]	benign\|likely benign	1	21563142	21563142	Human		name
13794403	CV508966	deletion	NM_000478.6(ALPL):c.18del (p.Val7fs)	Adult hypophosphatasia [RCV003465354]\|Hypophosphatasia [RCV001731812]\|Infantile hypophosphatasia [RCV000678683]	pathogenic	1	21554099	21554099	Human	3	name
15119547	CV780492	single nucleotide variant	NM_000478.6(ALPL):c.99G>A (p.Ala33=)	not provided [RCV000979137]	likely benign	1	21560663	21560663	Human		name
127256088	CV1066739	single nucleotide variant	NM_000478.6(ALPL):c.135G>A (p.Lys45=)	not provided [RCV001401187]	likely benign	1	21560699	21560699	Human		name
127279564	CV1066740	single nucleotide variant	NM_000478.6(ALPL):c.172C>T (p.Leu58=)	not provided [RCV001409212]	likely benign	1	21560736	21560736	Human		name
127240507	CV1066741	single nucleotide variant	NM_000478.6(ALPL):c.288C>T (p.Ala96=)	not provided [RCV001415568]	likely benign	1	21561203	21561203	Human		name
127324122	CV1130894	single nucleotide variant	NM_000478.6(ALPL):c.150G>A (p.Val50=)	not provided [RCV001485406]	likely benign	1	21560714	21560714	Human		name
127286268	CV1130895	single nucleotide variant	NM_000478.6(ALPL):c.282C>T (p.Phe94=)	Adult hypophosphatasia [RCV002501693]\|not provided [RCV001494086]	likely benign	1	21561197	21561197	Human	1	name
152027773	CV1521032	single nucleotide variant	NM_000478.6(ALPL):c.111G>A (p.Leu37=)	not provided [RCV002085242]	likely benign	1	21560675	21560675	Human		name
152076649	CV1565532	single nucleotide variant	NM_000478.6(ALPL):c.117T>C (p.Tyr39=)	not provided [RCV002148776]	likely benign	1	21560681	21560681	Human		name
152162611	CV1606346	single nucleotide variant	NM_000478.6(ALPL):c.279C>T (p.Pro93=)	not provided [RCV002181190]	likely benign	1	21561194	21561194	Human		name
152125120	CV1630115	single nucleotide variant	NM_000478.6(ALPL):c.120C>T (p.Ala40=)	not provided [RCV002154765]	likely benign	1	21560684	21560684	Human		name
152039290	CV1644377	single nucleotide variant	NM_000478.6(ALPL):c.219C>T (p.Leu73=)	not provided [RCV002165445]	likely benign	1	21561134	21561134	Human		name
156098411	CV1896634	single nucleotide variant	NM_000478.6(ALPL):c.258G>A (p.Arg86=)	not provided [RCV003080504]	likely benign	1	21561173	21561173	Human		name
156365993	CV1928805	single nucleotide variant	NM_000478.6(ALPL):c.22C>G (p.Leu8Val)	not provided [RCV002633015]	uncertain significance	1	21554103	21554103	Human		name
156173044	CV2051700	single nucleotide variant	NM_000478.6(ALPL):c.162C>T (p.Val54=)	not provided [RCV002828049]	likely benign	1	21560726	21560726	Human		name
155973124	CV2062590	single nucleotide variant	NM_000478.6(ALPL):c.201G>A (p.Val67=)	not provided [RCV002842171]	likely benign	1	21561116	21561116	Human		name
401880888	CV2763172	single nucleotide variant	NM_000478.6(ALPL):c.25G>T (p.Ala9Ser)	Inborn genetic diseases [RCV003349847]	uncertain significance	1	21554106	21554106	Human	1	name
405028625	CV2925855	microsatellite	NM_000478.6(ALPL):c.862+5GTGGAGGGG[3]	not provided [RCV003578191]	likely benign	1	21570378	21570379	Human		name
405222117	CV2966349	single nucleotide variant	NM_000478.6(ALPL):c.225T>G (p.Gly75=)	not provided [RCV003680829]	likely benign	1	21561140	21561140	Human		name
402516382	CV2992197	insertion	NM_000478.6(ALPL):c.1190-8_1190-7insA	not provided [RCV003689964]	likely benign	1	21576514	21576515	Human		name
597830943	CV3743676	single nucleotide variant	NM_000478.6(ALPL):c.19G>C (p.Val7Leu)	not provided [RCV005062493]	uncertain significance	1	21554100	21554100	Human		name
13785686	CV540716	single nucleotide variant	NM_000478.6(ALPL):c.147C>T (p.Asn49=)	Inborn genetic diseases [RCV004639314]\|Infantile hypophosphatasia [RCV000670545]\|not provided [RCV000936498]	likely benign	1	21560711	21560711	Human	2	name
13785537	CV540799	single nucleotide variant	NM_000478.6(ALPL):c.174G>A (p.Leu58=)	Infantile hypophosphatasia [RCV000665824]\|not provided [RCV002060814]	likely benign	1	21560738	21560738	Human	1	name
15112771	CV780493	single nucleotide variant	NM_000478.6(ALPL):c.204G>A (p.Thr68=)	Osteogenesis imperfecta [RCV002279679]\|not provided [RCV000977893]	likely benign\|uncertain significance	1	21561119	21561119	Human	1	name
15101541	CV780494	single nucleotide variant	NM_000478.6(ALPL):c.264G>A (p.Glu88=)	not provided [RCV000975606]	likely benign	1	21561179	21561179	Human		name
28895209	CV863514	single nucleotide variant	NM_000478.6(ALPL):c.26C>T (p.Ala9Val)	Adult hypophosphatasia [RCV002480471]\|Hypophosphatasia [RCV001101710]\|Inborn genetic diseases [RCV002556045]\|not provided [RCV002554979]	uncertain significance	1	21554107	21554107	Human	3	name
28895213	CV863515	single nucleotide variant	NM_000478.6(ALPL):c.109C>T (p.Leu37=)	Adult hypophosphatasia [RCV001559150]\|Childhood hypophosphatasia [RCV001559151]\|Hypophosphatasia [RCV001101711]\|Infantile hypophosphatasia [RCV001559152]\|not provided [RCV002067773]	likely benign\|uncertain significance	1	21560673	21560673	Human	4	name
38597952	CV964144	single nucleotide variant	NM_000478.6(ALPL):c.297G>A (p.Lys99=)	Adult hypophosphatasia [RCV001253272]	uncertain significance	1	21561212	21561212	Human	1	name
40906314	CV977478	single nucleotide variant	NM_000478.6(ALPL):c.237C>T (p.His79=)	Hypophosphatasia [RCV001279674]	uncertain significance	1	21561152	21561152	Human	1	name
126727718	CV1022918	single nucleotide variant	NM_000478.6(ALPL):c.35C>T (p.Thr12Ile)	not provided [RCV001348759]	uncertain significance	1	21554116	21554116	Human		name
127239666	CV1066749	single nucleotide variant	NM_000478.6(ALPL):c.300G>A (p.Thr100=)	not provided [RCV001392780]	likely benign	1	21563112	21563112	Human		name
127283883	CV1066750	single nucleotide variant	NM_000478.6(ALPL):c.300G>C (p.Thr100=)	not provided [RCV001412064]	likely benign	1	21563112	21563112	Human		name
127255017	CV1066751	single nucleotide variant	NM_000478.6(ALPL):c.375G>A (p.Glu125=)	not provided [RCV001418664]	likely benign	1	21563187	21563187	Human		name
127232915	CV1066752	single nucleotide variant	NM_000478.6(ALPL):c.435C>T (p.Asn145=)	ALPL-related disorder [RCV004550133]\|not provided [RCV001413676]	likely benign	1	21563247	21563247	Human	1	name , alternate_id
127258743	CV1066753	single nucleotide variant	NM_000478.6(ALPL):c.444C>T (p.Thr148=)	not provided [RCV001401746]	likely benign	1	21563256	21563256	Human		name
127245051	CV1066759	single nucleotide variant	NM_000478.6(ALPL):c.501G>A (p.Thr167=)	not provided [RCV001393811]	likely benign	1	21564069	21564069	Human		name
127248964	CV1066760	single nucleotide variant	NM_000478.6(ALPL):c.564A>T (p.Ser188=)	not provided [RCV001399509]	likely benign	1	21564132	21564132	Human		name
127230593	CV1066797	single nucleotide variant	NM_000478.6(ALPL):c.675C>T (p.Tyr225=)	not provided [RCV001394759]	likely benign	1	21568130	21568130	Human		name
127243989	CV1066798	single nucleotide variant	NM_000478.6(ALPL):c.717C>T (p.Asp239=)	not provided [RCV001416279]	likely benign	1	21568172	21568172	Human		name
127279787	CV1066799	single nucleotide variant	NM_000478.6(ALPL):c.732C>T (p.Gly244=)	not provided [RCV001409335]	likely benign	1	21568187	21568187	Human		name
127231655	CV1066805	single nucleotide variant	NM_000478.6(ALPL):c.942G>A (p.Val314=)	not provided [RCV001413189]	likely benign	1	21573744	21573744	Human		name
127268671	CV1066806	single nucleotide variant	NM_000478.6(ALPL):c.984C>T (p.Phe328=)	not provided [RCV001404440]	likely benign	1	21573786	21573786	Human		name
127234880	CV1066807	single nucleotide variant	NM_000478.6(ALPL):c.990G>A (p.Leu330=)	not provided [RCV001414287]	likely benign	1	21573792	21573792	Human		name
127267979	CV1088484	single nucleotide variant	NM_000478.6(ALPL):c.393C>T (p.Ser131=)	Adult hypophosphatasia [RCV002501549]\|not provided [RCV001440662]	likely benign	1	21563205	21563205	Human	1	name
127274691	CV1088486	single nucleotide variant	NM_000478.6(ALPL):c.495C>T (p.Thr165=)	not provided [RCV001432041]	likely benign	1	21564063	21564063	Human		name
127270596	CV1088489	single nucleotide variant	NM_000478.6(ALPL):c.498C>G (p.Thr166=)	not provided [RCV001430681]	likely benign	1	21564066	21564066	Human		name
127233640	CV1088492	single nucleotide variant	NM_000478.6(ALPL):c.543G>A (p.Ser181=)	not provided [RCV001421824]	likely benign	1	21564111	21564111	Human		name
127276853	CV1088493	single nucleotide variant	NM_000478.6(ALPL):c.582T>C (p.Pro194=)	Adult hypophosphatasia [RCV001559283]\|Adult hypophosphatasia [RCV002501563]\|Childhood hypophosphatasia [RCV001559284]\|Infantile hypophosphatasia [RCV001559285]\|not provided [RCV001444060]	likely benign	1	21564150	21564150	Human	3	name
127252166	CV1088548	single nucleotide variant	NM_000478.6(ALPL):c.777C>T (p.Phe259=)	not provided [RCV001425783]	likely benign	1	21568232	21568232	Human		name
127245976	CV1088549	single nucleotide variant	NM_000478.6(ALPL):c.783G>A (p.Pro261=)	not provided [RCV001424439]	likely benign	1	21568238	21568238	Human		name
127284457	CV1088550	single nucleotide variant	NM_000478.6(ALPL):c.831C>A (p.Thr277=)	not provided [RCV001449472]	likely benign	1	21570343	21570343	Human		name
127282647	CV1088557	single nucleotide variant	NM_000478.6(ALPL):c.915G>A (p.Thr305=)	not provided [RCV001448015]	likely benign	1	21573717	21573717	Human		name
127272387	CV1088558	single nucleotide variant	NM_000478.6(ALPL):c.930C>T (p.Ser310=)	not provided [RCV001442180]	likely benign	1	21573732	21573732	Human		name
127335010	CV1109999	single nucleotide variant	NM_000478.6(ALPL):c.453G>A (p.Leu151=)	not provided [RCV001473970]	likely benign	1	21563265	21563265	Human		name
127301965	CV1110010	single nucleotide variant	NM_000478.6(ALPL):c.495C>A (p.Thr165=)	not provided [RCV001461516]	likely benign	1	21564063	21564063	Human		name
127300239	CV1110012	single nucleotide variant	NM_000478.6(ALPL):c.504A>G (p.Arg168=)	not provided [RCV001478380]	likely benign	1	21564072	21564072	Human		name
127306971	CV1110014	single nucleotide variant	NM_000478.6(ALPL):c.525C>T (p.Ser175=)	not provided [RCV001455689]	likely benign	1	21564093	21564093	Human		name
127329774	CV1110015	single nucleotide variant	NM_000478.6(ALPL):c.597G>A (p.Gln199=)	not provided [RCV001470417]	likely benign	1	21564165	21564165	Human		name
127310380	CV1110046	single nucleotide variant	NM_000478.6(ALPL):c.660G>T (p.Gly220=)	Adult hypophosphatasia [RCV002501599]\|not provided [RCV001456599]	likely benign	1	21568115	21568115	Human	1	name
127306286	CV1110047	single nucleotide variant	NM_000478.6(ALPL):c.708T>C (p.Tyr236=)	not provided [RCV001462749]	likely benign	1	21568163	21568163	Human		name
127332207	CV1110048	single nucleotide variant	NM_000478.6(ALPL):c.735G>A (p.Thr245=)	not provided [RCV001472089]	likely benign	1	21568190	21568190	Human		name
127293243	CV1110049	single nucleotide variant	NM_000478.6(ALPL):c.741G>A (p.Leu247=)	not provided [RCV001451929]	likely benign	1	21568196	21568196	Human		name
127335821	CV1110050	single nucleotide variant	NM_000478.6(ALPL):c.765C>T (p.Thr255=)	not provided [RCV001474506]	likely benign	1	21568220	21568220	Human		name
127306023	CV1130902	single nucleotide variant	NM_000478.6(ALPL):c.339C>T (p.Thr113=)	Adult hypophosphatasia [RCV002495714]\|not provided [RCV001479903]	likely benign	1	21563151	21563151	Human	1	name
127315590	CV1130913	single nucleotide variant	NM_000478.6(ALPL):c.510C>T (p.Asn170=)	not provided [RCV001482560]	likely benign	1	21564078	21564078	Human		name
127286886	CV1130914	single nucleotide variant	NM_000478.6(ALPL):c.555C>T (p.Asp185=)	not provided [RCV001494608]	likely benign	1	21564123	21564123	Human		name
127334277	CV1130950	single nucleotide variant	NM_000478.6(ALPL):c.870C>T (p.Phe290=)	not provided [RCV001490735]	likely benign	1	21573672	21573672	Human		name
127330974	CV1130951	single nucleotide variant	NM_000478.6(ALPL):c.882C>T (p.Asp294=)	not provided [RCV001488525]	likely benign	1	21573684	21573684	Human		name
127318261	CV1130952	single nucleotide variant	NM_000478.6(ALPL):c.918C>T (p.Asp306=)	Adult hypophosphatasia [RCV002506557]\|not provided [RCV001483471]	likely benign	1	21573720	21573720	Human	1	name
150457016	CV1202569	deletion	NM_000478.6(ALPL):c.863-200_863-188del	not provided [RCV001586222]	likely benign	1	21573455	21573467	Human		name
150498595	CV1208946	microsatellite	NM_000478.6(ALPL):c.863-200_863-195del	not provided [RCV001594163]	likely benign	1	21573455	21573460	Human		name
150470593	CV1248024	microsatellite	NM_000478.6(ALPL):c.473-266_473-264del	not provided [RCV001671060]	benign	1	21563772	21563774	Human		name
150457046	CV1248734	deletion	NM_000478.6(ALPL):c.863-216_863-214del	not provided [RCV001668910]	benign	1	21573447	21573449	Human		name
150444149	CV1266489	deletion	NM_000478.6(ALPL):c.863-201_863-194del	not provided [RCV001690925]	benign	1	21573460	21573467	Human		name
150555178	CV1296002	single nucleotide variant	NM_000478.6(ALPL):c.88C>G (p.Arg30Gly)	not provided [RCV001772511]	uncertain significance	1	21560652	21560652	Human		name
151352681	CV1325710	single nucleotide variant	NM_000478.6(ALPL):c.41T>C (p.Leu14Pro)	Hypophosphatasia [RCV001815056]	likely pathogenic	1	21554122	21554122	Human	1	name
151754714	CV1425832	single nucleotide variant	NM_000478.6(ALPL):c.381C>T (p.Thr127=)	not provided [RCV002007213]	likely benign	1	21563193	21563193	Human		name
151856063	CV1448949	single nucleotide variant	NM_000478.6(ALPL):c.91G>A (p.Asp31Asn)	not provided [RCV001979535]	uncertain significance	1	21560655	21560655	Human		name
152108726	CV1530012	single nucleotide variant	NM_000478.6(ALPL):c.957C>A (p.Ile319=)	not provided [RCV002196493]	likely benign	1	21573759	21573759	Human		name
152117361	CV1538860	single nucleotide variant	NM_000478.6(ALPL):c.969C>T (p.Asn323=)	not provided [RCV002175111]	likely benign	1	21573771	21573771	Human		name
152100985	CV1546893	single nucleotide variant	NM_000478.6(ALPL):c.492G>A (p.Val164=)	not provided [RCV002151808]	likely benign	1	21564060	21564060	Human		name
152167869	CV1547814	single nucleotide variant	NM_000478.6(ALPL):c.312T>C (p.Asn104=)	not provided [RCV002160973]	likely benign	1	21563124	21563124	Human		name
152031795	CV1548837	single nucleotide variant	NM_000478.6(ALPL):c.352C>T (p.Leu118=)	not provided [RCV002086449]	likely benign	1	21563164	21563164	Human		name
152035592	CV1552998	single nucleotide variant	NM_000478.6(ALPL):c.750G>T (p.Leu250=)	not provided [RCV002187433]	likely benign	1	21568205	21568205	Human		name
152096447	CV1557975	single nucleotide variant	NM_000478.6(ALPL):c.315C>T (p.Ala105=)	not provided [RCV002172517]	likely benign	1	21563127	21563127	Human		name
152134719	CV1564804	single nucleotide variant	NM_000478.6(ALPL):c.384G>T (p.Val128=)	not provided [RCV002199794]	likely benign	1	21563196	21563196	Human		name
152069717	CV1569990	single nucleotide variant	NM_000478.6(ALPL):c.561C>T (p.Tyr187=)	not provided [RCV002191622]	likely benign	1	21564129	21564129	Human		name
152122590	CV1570446	single nucleotide variant	NM_000478.6(ALPL):c.852C>T (p.Asp284=)	not provided [RCV002216982]	likely benign	1	21570364	21570364	Human		name
152145066	CV1582611	single nucleotide variant	NM_000478.6(ALPL):c.414G>T (p.Arg138=)	not provided [RCV002201112]	likely benign	1	21563226	21563226	Human		name
152133853	CV1582927	single nucleotide variant	NM_000478.6(ALPL):c.516C>A (p.Ala172=)	not provided [RCV002099844]	likely benign	1	21564084	21564084	Human		name
152105907	CV1591548	single nucleotide variant	NM_000478.6(ALPL):c.606G>A (p.Lys202=)	not provided [RCV002214804]	likely benign	1	21564174	21564174	Human		name
152093038	CV1603127	single nucleotide variant	NM_000478.6(ALPL):c.748C>T (p.Leu250=)	not provided [RCV002194545]	likely benign	1	21568203	21568203	Human		name
152087827	CV1608590	single nucleotide variant	NM_000478.6(ALPL):c.624C>A (p.Leu208=)	not provided [RCV002212296]	likely benign	1	21564192	21564192	Human		name
152161038	CV1619277	single nucleotide variant	NM_000478.6(ALPL):c.891C>T (p.Tyr297=)	not provided [RCV002159644]	likely benign	1	21573693	21573693	Human		name
152111245	CV1626170	single nucleotide variant	NM_000478.6(ALPL):c.831C>G (p.Thr277=)	not provided [RCV002153082]	likely benign	1	21570343	21570343	Human		name
152135140	CV1634399	single nucleotide variant	NM_000478.6(ALPL):c.411C>G (p.Ser137=)	not provided [RCV002218616]	likely benign	1	21563223	21563223	Human		name
152034334	CV1639433	single nucleotide variant	NM_000478.6(ALPL):c.550C>A (p.Arg184=)	not provided [RCV002187242]	likely benign	1	21564118	21564118	Human		name
152032651	CV1643141	single nucleotide variant	NM_000478.6(ALPL):c.747C>T (p.Gly249=)	not provided [RCV002205016]	likely benign	1	21568202	21568202	Human		name
152088620	CV1655714	single nucleotide variant	NM_000478.6(ALPL):c.321C>G (p.Val107=)	not provided [RCV002193996]	likely benign	1	21563133	21563133	Human		name
152099590	CV1663987	single nucleotide variant	NM_000478.6(ALPL):c.909C>T (p.Asn303=)	not provided [RCV002078813]	likely benign	1	21573711	21573711	Human		name
10048848	CV194839	single nucleotide variant	NM_000478.6(ALPL):c.330T>C (p.Ser110=)	Adult hypophosphatasia [RCV001533724]\|Childhood hypophosphatasia [RCV001533723]\|Hypophosphatasia [RCV001832026]\|Infantile hypophosphatasia [RCV001533722]\|not provided [RCV001514855]\|not specified [RCV000178778]	benign	1	21563142	21563142	Human	4	name
156403782	CV1989691	single nucleotide variant	NM_000478.6(ALPL):c.354G>A (p.Leu118=)	not provided [RCV002657909]	likely benign	1	21563166	21563166	Human		name
156014077	CV2036002	single nucleotide variant	NM_000478.6(ALPL):c.498C>A (p.Thr166=)	not provided [RCV002756845]	likely benign	1	21564066	21564066	Human		name
156284519	CV2043049	single nucleotide variant	NM_000478.6(ALPL):c.384G>C (p.Val128=)	not provided [RCV002770508]	likely benign	1	21563196	21563196	Human		name
156215219	CV2070620	single nucleotide variant	NM_000478.6(ALPL):c.522C>T (p.Pro174=)	not provided [RCV002829466]	likely benign	1	21564090	21564090	Human		name
156236265	CV2072555	single nucleotide variant	NM_000478.6(ALPL):c.951C>T (p.Ile317=)	not provided [RCV002830241]	likely benign	1	21573753	21573753	Human		name
156327135	CV2116116	single nucleotide variant	NM_000478.6(ALPL):c.462C>G (p.Ala154=)	not provided [RCV002938152]	likely benign	1	21563274	21563274	Human		name
156116917	CV2117586	single nucleotide variant	NM_000478.6(ALPL):c.813C>T (p.Asn271=)	not provided [RCV002953345]	likely benign	1	21570325	21570325	Human		name
156175026	CV2144700	single nucleotide variant	NM_000478.6(ALPL):c.702G>A (p.Val234=)	not provided [RCV003005517]	likely benign	1	21568157	21568157	Human		name
156287596	CV2154931	single nucleotide variant	NM_000478.6(ALPL):c.669G>A (p.Arg223=)	not provided [RCV003009836]	likely benign	1	21568124	21568124	Human		name
156029599	CV2156314	single nucleotide variant	NM_000478.6(ALPL):c.795C>T (p.His265=)	not provided [RCV003018617]	likely benign	1	21570307	21570307	Human		name
156328231	CV2161105	single nucleotide variant	NM_000478.6(ALPL):c.486C>T (p.Gly162=)	not provided [RCV003029614]	likely benign	1	21564054	21564054	Human		name
156321708	CV2166606	single nucleotide variant	NM_000478.6(ALPL):c.699T>C (p.Asp233=)	not provided [RCV003029210]	likely benign	1	21568154	21568154	Human		name
11549966	CV249715	single nucleotide variant	NM_000478.6(ALPL):c.744C>T (p.Asp248=)	not provided [RCV000913489]\|not specified [RCV000251117]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	21568199	21568199	Human		name
11552052	CV249723	single nucleotide variant	NM_000478.6(ALPL):c.876A>G (p.Pro292=)	Adult hypophosphatasia [RCV001533621]\|Childhood hypophosphatasia [RCV001533620]\|Hypophosphatasia [RCV000274166]\|Infantile hypophosphatasia [RCV001533619]\|not provided [RCV000710518]\|not specified [RCV000253870]	benign	1	21573678	21573678	Human	4	name
11643775	CV273374	single nucleotide variant	NM_000478.6(ALPL):c.612C>T (p.Ile204=)	Hypophosphatasia [RCV001098040]\|not provided [RCV000398912]\|not specified [RCV001660555]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21564180	21564180	Human	1	name
401738739	CV2738363	single nucleotide variant	NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)	Hypophosphatasia [RCV003317753]	likely pathogenic	1	21554110	21554110	Human	1	name
11577749	CV278892	single nucleotide variant	NM_000478.6(ALPL):c.534C>T (p.Tyr178=)	Hypophosphatasia [RCV000266690]\|not provided [RCV000756986]	benign\|likely benign	1	21564102	21564102	Human	1	name
11579926	CV280385	single nucleotide variant	NM_000478.6(ALPL):c.648C>T (p.Asp216=)	ALPL-related disorder [RCV004549650]\|Hypophosphatasia [RCV000317133]\|not provided [RCV001363813]	likely benign\|uncertain significance	1	21564216	21564216	Human	1	name , alternate_id
402476910	CV2857437	single nucleotide variant	NM_000478.6(ALPL):c.321C>A (p.Val107=)	not provided [RCV003543526]	likely benign	1	21563133	21563133	Human		name
8599495	CV28706	single nucleotide variant	NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	Adult hypophosphatasia [RCV003473099]\|Adult hypophosphatasia [RCV005016263]\|Childhood hypophosphatasia [RCV001333468]\|Hypophosphatasia [RCV001273156]\|Infantile hypophosphatasia [RCV000014655]\|not provided [RCV001042961]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21560662	21560662	Human	4	name
402518613	CV2870892	single nucleotide variant	NM_000478.6(ALPL):c.390A>C (p.Val130=)	not provided [RCV003547587]	likely benign	1	21563202	21563202	Human		name
405190253	CV2875006	single nucleotide variant	NM_000478.6(ALPL):c.360G>C (p.Gly120=)	not provided [RCV003550271]	likely benign	1	21563172	21563172	Human		name
405213920	CV2879562	single nucleotide variant	NM_000478.6(ALPL):c.318G>A (p.Gln106=)	not provided [RCV003552969]	likely benign	1	21563130	21563130	Human		name
402470479	CV2907971	single nucleotide variant	NM_000478.6(ALPL):c.573G>A (p.Glu191=)	not provided [RCV003570367]	likely benign	1	21564141	21564141	Human		name
402468326	CV2911555	single nucleotide variant	NM_000478.6(ALPL):c.999A>G (p.Gly333=)	not provided [RCV003569879]	likely benign	1	21575734	21575734	Human		name
405211444	CV2917259	single nucleotide variant	NM_000478.6(ALPL):c.879G>A (p.Gly293=)	not provided [RCV003567224]	likely benign	1	21573681	21573681	Human		name
402508436	CV2924498	single nucleotide variant	NM_000478.6(ALPL):c.954G>A (p.Gln318=)	not provided [RCV003574695]	likely benign	1	21573756	21573756	Human		name
405029308	CV2925972	single nucleotide variant	NM_000478.6(ALPL):c.894G>A (p.Glu298=)	not provided [RCV003578238]	likely benign	1	21573696	21573696	Human		name
405093214	CV2947153	single nucleotide variant	NM_000478.6(ALPL):c.98C>G (p.Ala33Gly)	not provided [RCV003665437]	likely pathogenic	1	21560662	21560662	Human		name
405118225	CV2955810	single nucleotide variant	NM_000478.6(ALPL):c.771G>A (p.Lys257=)	not provided [RCV003671182]	likely benign	1	21568226	21568226	Human		name
405158324	CV2956697	single nucleotide variant	NM_000478.6(ALPL):c.933G>A (p.Glu311=)	not provided [RCV003674502]	likely benign	1	21573735	21573735	Human		name
405114451	CV2956839	single nucleotide variant	NM_000478.6(ALPL):c.879G>T (p.Gly293=)	not provided [RCV003666745]	likely benign	1	21573681	21573681	Human		name
405127559	CV2957143	single nucleotide variant	NM_000478.6(ALPL):c.684C>G (p.Pro228=)	not provided [RCV003672104]	likely benign	1	21568139	21568139	Human		name
405245618	CV2969292	single nucleotide variant	NM_000478.6(ALPL):c.324T>G (p.Pro108=)	not provided [RCV003685220]	likely benign	1	21563136	21563136	Human		name
405248579	CV2984755	single nucleotide variant	NM_000478.6(ALPL):c.315C>G (p.Ala105=)	not provided [RCV003721077]	likely benign	1	21563127	21563127	Human		name
402495244	CV3005670	single nucleotide variant	NM_000478.6(ALPL):c.513T>C (p.His171=)	not provided [RCV003687947]	likely benign	1	21564081	21564081	Human		name
405032935	CV3009241	single nucleotide variant	NM_000478.6(ALPL):c.789C>T (p.Tyr263=)	not provided [RCV003695708]	likely benign	1	21568244	21568244	Human		name
402491384	CV3011948	single nucleotide variant	NM_000478.6(ALPL):c.327C>T (p.Asp109=)	not provided [RCV003687568]	likely benign	1	21563139	21563139	Human		name
405038806	CV3013524	single nucleotide variant	NM_000478.6(ALPL):c.324T>C (p.Pro108=)	not provided [RCV003696161]	likely benign	1	21563136	21563136	Human		name
405152963	CV3031480	single nucleotide variant	NM_000478.6(ALPL):c.591G>A (p.Leu197=)	not provided [RCV003703365]	likely benign	1	21564159	21564159	Human		name
405185817	CV3040443	single nucleotide variant	NM_000478.6(ALPL):c.387G>T (p.Gly129=)	not provided [RCV003706004]	likely benign	1	21563199	21563199	Human		name
405166449	CV3059690	single nucleotide variant	NM_000478.6(ALPL):c.666C>T (p.Gly222=)	not provided [RCV003727487]	likely benign	1	21568121	21568121	Human		name
405221145	CV3060131	single nucleotide variant	NM_000478.6(ALPL):c.702G>T (p.Val234=)	not provided [RCV003733328]	likely benign	1	21568157	21568157	Human		name
405031415	CV3077591	single nucleotide variant	NM_000478.6(ALPL):c.826C>T (p.Leu276=)	not provided [RCV003739177]	likely benign	1	21570338	21570338	Human		name
405111990	CV3133544	single nucleotide variant	NM_000478.6(ALPL):c.432G>A (p.Gly144=)	not provided [RCV003836337]	likely benign	1	21563244	21563244	Human		name
405084916	CV3137683	single nucleotide variant	NM_000478.6(ALPL):c.32G>A (p.Gly11Asp)	not provided [RCV003834392]	uncertain significance	1	21554113	21554113	Human		name
405075482	CV3156143	single nucleotide variant	NM_000478.6(ALPL):c.867C>T (p.Leu289=)	not provided [RCV003851201]	likely benign	1	21573669	21573669	Human		name
402498260	CV3170305	single nucleotide variant	NM_000478.6(ALPL):c.837C>T (p.Asp279=)	not provided [RCV003877677]	likely benign	1	21570349	21570349	Human		name
405240871	CV3176825	single nucleotide variant	NM_000478.6(ALPL):c.696T>C (p.Thr232=)	not provided [RCV003867263]	likely benign	1	21568151	21568151	Human		name
402474587	CV3182780	single nucleotide variant	NM_000478.6(ALPL):c.774C>T (p.Ser258=)	not provided [RCV003875023]	likely benign	1	21568229	21568229	Human		name
407427153	CV3410490	single nucleotide variant	NM_000478.6(ALPL):c.97G>C (p.Ala33Pro)	not specified [RCV004586137]	uncertain significance	1	21560661	21560661	Human		name
407574332	CV3498681	single nucleotide variant	NM_000478.6(ALPL):c.67G>A (p.Glu23Lys)	not provided [RCV005103571]\|not specified [RCV004703157]	uncertain significance	1	21560631	21560631	Human		name
12739744	CV357055	single nucleotide variant	NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)	Adult hypophosphatasia [RCV002502420]\|Hypophosphatasia [RCV005418102]\|Infantile hypophosphatasia [RCV000410316]\|not provided [RCV001050992]	pathogenic\|likely pathogenic	1	21560652	21560652	Human	3	name
12740028	CV357056	deletion	NM_000478.6(ALPL):c.114del (p.Lys38fs)	Infantile hypophosphatasia [RCV000411021]	likely pathogenic	1	21560676	21560676	Human	1	name
12740354	CV357057	deletion	NM_000478.6(ALPL):c.129del (p.Gln44fs)	Adult hypophosphatasia [RCV002502429]\|Infantile hypophosphatasia [RCV000411776]\|not provided [RCV001861392]	pathogenic\|likely pathogenic	1	21560692	21560692	Human	2	name
12847034	CV364857	single nucleotide variant	NM_000478.6(ALPL):c.40C>T (p.Leu14Phe)	Hypophosphatasia [RCV001277094]\|not provided [RCV000442772]	uncertain significance	1	21554121	21554121	Human	1	name
597626226	CV3715258	single nucleotide variant	NM_000478.6(ALPL):c.79A>G (p.Lys27Glu)	Adult hypophosphatasia [RCV005022105]	uncertain significance	1	21560643	21560643	Human	1	name
597692801	CV3715347	single nucleotide variant	NM_000478.6(ALPL):c.309C>T (p.Thr103=)	Adult hypophosphatasia [RCV005007543]	uncertain significance	1	21563121	21563121	Human	1	name
597693342	CV3715440	single nucleotide variant	NM_000478.6(ALPL):c.471T>A (p.Ala157=)	Adult hypophosphatasia [RCV005007590]	uncertain significance	1	21563283	21563283	Human	1	name
597909383	CV3782001	deletion	NM_000478.6(ALPL):c.279del (p.Phe94fs)	not provided [RCV005128493]	pathogenic	1	21561191	21561191	Human		name
597962113	CV3795368	deletion	NM_000478.6(ALPL):c.158del (p.Asn53fs)	not provided [RCV005139060]	pathogenic	1	21560721	21560721	Human		name
597942942	CV3816356	single nucleotide variant	NM_000478.6(ALPL):c.357T>C (p.Cys119=)	not provided [RCV005159417]	likely benign	1	21563169	21563169	Human		name
597898999	CV3826710	single nucleotide variant	NM_000478.6(ALPL):c.786A>G (p.Arg262=)	not provided [RCV005180843]	uncertain significance	1	21568241	21568241	Human		name
597915400	CV3833847	single nucleotide variant	NM_000478.6(ALPL):c.552G>T (p.Arg184=)	not provided [RCV005183206]	likely benign	1	21564120	21564120	Human		name
597864101	CV3860822	single nucleotide variant	NM_000478.6(ALPL):c.834T>G (p.Leu278=)	not provided [RCV005196350]	likely benign	1	21570346	21570346	Human		name
616933589	CV4013555	single nucleotide variant	NM_000478.6(ALPL):c.498C>T (p.Thr166=)	Hypophosphatasia [RCV005411097]	uncertain significance	1	21564066	21564066	Human	1	name
13523200	CV490075	single nucleotide variant	NM_000478.6(ALPL):c.921G>A (p.Pro307=)	not provided [RCV000592701]	conflicting interpretations of pathogenicity\|uncertain significance	1	21573723	21573723	Human		name
13785560	CV540714	single nucleotide variant	NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)	Infantile hypophosphatasia [RCV000666764]\|not provided [RCV005091931]	pathogenic\|likely pathogenic	1	21560651	21560651	Human	1	name
13785733	CV540774	single nucleotide variant	NM_000478.6(ALPL):c.61G>A (p.Glu21Lys)	Infantile hypophosphatasia [RCV000672433]	uncertain significance	1	21554142	21554142	Human	1	name
13804700	CV576481	single nucleotide variant	NM_000478.6(ALPL):c.858A>G (p.Leu286=)	ALPL-related disorder [RCV004547881]\|Hypophosphatasia [RCV001099813]\|Osteogenesis imperfecta [RCV002279496]\|not provided [RCV000710517]	benign\|likely benign	1	21570370	21570370	Human	2	name , alternate_id
15164065	CV732099	single nucleotide variant	NM_000478.6(ALPL):c.369C>A (p.Ala123=)	Hypophosphatasia [RCV001277095]\|not provided [RCV000903917]	likely benign	1	21563181	21563181	Human	1	name
15192559	CV732100	single nucleotide variant	NM_000478.6(ALPL):c.468C>T (p.Asp156=)	Adult hypophosphatasia [RCV002495498]\|Hypophosphatasia [RCV001098039]\|not provided [RCV000910579]\|not specified [RCV001818826]	likely benign	1	21563280	21563280	Human	2	name
15108834	CV746093	single nucleotide variant	NM_000478.6(ALPL):c.44C>G (p.Thr15Ser)	ALPL-related disorder [RCV004551817]\|Hypophosphatasia [RCV001832071]\|not provided [RCV000916215]	benign\|likely benign	1	21554125	21554125	Human	1	name , alternate_id
15128681	CV746095	single nucleotide variant	NM_000478.6(ALPL):c.642C>T (p.Asp214=)	not provided [RCV000919696]	likely benign	1	21564210	21564210	Human		name
15099447	CV746101	single nucleotide variant	NM_000478.6(ALPL):c.859T>C (p.Leu287=)	Adult hypophosphatasia [RCV002502757]\|Hypophosphatasia [RCV001277096]\|Osteogenesis imperfecta [RCV002279633]\|not provided [RCV000914455]	benign\|likely benign	1	21570371	21570371	Human	3	name
15179748	CV761552	single nucleotide variant	NM_000478.6(ALPL):c.345C>T (p.Thr115=)	not provided [RCV000929716]	likely benign	1	21563157	21563157	Human		name
15141556	CV761553	single nucleotide variant	NM_000478.6(ALPL):c.420C>T (p.Asn140=)	Adult hypophosphatasia [RCV005021283]\|not provided [RCV000943917]	likely benign\|uncertain significance	1	21563232	21563232	Human	1	name
15144091	CV761554	single nucleotide variant	NM_000478.6(ALPL):c.456C>T (p.Arg152=)	Adult hypophosphatasia [RCV005021284]\|not provided [RCV000944353]	likely benign\|uncertain significance	1	21563268	21563268	Human	1	name
15191259	CV761558	single nucleotide variant	NM_000478.6(ALPL):c.528C>T (p.Ala176=)	Adult hypophosphatasia [RCV002502852]\|Hypophosphatasia [RCV001832123]\|not provided [RCV000932751]	likely benign	1	21564096	21564096	Human	2	name
15187141	CV761559	single nucleotide variant	NM_000478.6(ALPL):c.531C>G (p.Ala177=)	not provided [RCV000931569]	likely benign	1	21564099	21564099	Human		name
15109151	CV780499	single nucleotide variant	NM_000478.6(ALPL):c.570C>T (p.Asn190=)	not provided [RCV000977178]	likely benign	1	21564138	21564138	Human		name
15143467	CV780514	single nucleotide variant	NM_000478.6(ALPL):c.831C>T (p.Thr277=)	Hypophosphatasia [RCV001832293]\|not provided [RCV000983333]	likely benign	1	21570343	21570343	Human	1	name
15145060	CV780516	single nucleotide variant	NM_000478.6(ALPL):c.864T>C (p.Gly288=)	not provided [RCV000983598]	likely benign	1	21573666	21573666	Human		name
28879664	CV863516	single nucleotide variant	NM_000478.6(ALPL):c.306C>T (p.Asn102=)	ALPL-related disorder [RCV004547980]\|Hypophosphatasia [RCV001096291]\|not provided [RCV001457430]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21563118	21563118	Human	1	name , alternate_id
28879670	CV863517	single nucleotide variant	NM_000478.6(ALPL):c.333C>T (p.Ala111=)	Hypophosphatasia [RCV001096292]\|not provided [RCV001494409]	likely benign\|uncertain significance	1	21563145	21563145	Human	1	name
28885159	CV863519	single nucleotide variant	NM_000478.6(ALPL):c.756C>T (p.Leu252=)	Hypophosphatasia [RCV001098041]\|not provided [RCV002067748]	likely benign\|uncertain significance	1	21568211	21568211	Human	1	name
28885163	CV863520	single nucleotide variant	NM_000478.6(ALPL):c.819G>A (p.Thr273=)	Hypophosphatasia [RCV001098042]\|not provided [RCV001439601]	likely benign\|uncertain significance	1	21570331	21570331	Human	1	name
38596365	CV963248	single nucleotide variant	NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)	ALPL-related disorder [RCV004727050]\|Adult hypophosphatasia [RCV003462830]\|Hypophosphatasia [RCV001251316]\|See cases [RCV004584429]\|not provided [RCV002568714]	pathogenic\|likely pathogenic	1	21560658	21560658	Human	2	name , alternate_id
40906315	CV977488	single nucleotide variant	NM_000478.6(ALPL):c.846T>C (p.Asn282=)	Hypophosphatasia [RCV001279675]\|not provided [RCV001395490]	likely benign\|uncertain significance	1	21570358	21570358	Human	1	name
40906316	CV977491	single nucleotide variant	NM_000478.6(ALPL):c.963G>A (p.Arg321=)	Hypophosphatasia [RCV001279676]\|not provided [RCV003574874]	likely benign\|uncertain significance	1	21573765	21573765	Human	1	name
127270356	CV1058554	single nucleotide variant	NM_000478.6(ALPL):c.203C>T (p.Thr68Met)	Adult hypophosphatasia [RCV002493933]\|Adult hypophosphatasia [RCV003469764]\|Hypophosphatasia [RCV003479323]\|not provided [RCV001389815]	pathogenic\|likely pathogenic	1	21561118	21561118	Human	2	name
127268670	CV1058555	single nucleotide variant	NM_000478.6(ALPL):c.212G>A (p.Arg71His)	Adult hypophosphatasia [RCV003388008]\|Hypophosphatasia [RCV001836391]\|Infantile hypophosphatasia [RCV004556085]\|not provided [RCV001382221]	pathogenic	1	21561127	21561127	Human	3	name
127268673	CV1058556	single nucleotide variant	NM_000478.6(ALPL):c.223G>A (p.Gly75Ser)	Adult hypophosphatasia [RCV003469672]\|not provided [RCV001382222]	pathogenic\|likely pathogenic	1	21561138	21561138	Human	1	name
127266468	CV1058558	deletion	NM_000478.6(ALPL):c.412del (p.Arg138fs)	Hypophosphatasia [RCV003448409]\|Infantile hypophosphatasia [RCV005401834]\|not provided [RCV001388723]	pathogenic\|likely pathogenic	1	21563222	21563222	Human	2	name
127248577	CV1066813	single nucleotide variant	NM_000478.6(ALPL):c.1077C>T (p.Ile359=)	not provided [RCV001417175]	likely benign	1	21575812	21575812	Human		name
127240706	CV1066814	single nucleotide variant	NM_000478.6(ALPL):c.1092C>T (p.Ser364=)	not provided [RCV001415603]	likely benign	1	21575827	21575827	Human		name
127281587	CV1066815	single nucleotide variant	NM_000478.6(ALPL):c.1098C>G (p.Thr366=)	not provided [RCV001410584]	likely benign	1	21575833	21575833	Human		name
127281125	CV1066816	single nucleotide variant	NM_000478.6(ALPL):c.1101C>T (p.Ser367=)	not provided [RCV001410231]	likely benign	1	21575836	21575836	Human		name
127238720	CV1066820	single nucleotide variant	NM_000478.6(ALPL):c.1251T>C (p.Asn417=)	not provided [RCV001397377]	likely benign	1	21576583	21576583	Human		name
127272769	CV1066821	single nucleotide variant	NM_000478.6(ALPL):c.1257T>C (p.Pro419=)	not provided [RCV001405799]	likely benign	1	21576589	21576589	Human		name
127244282	CV1066822	single nucleotide variant	NM_000478.6(ALPL):c.1275C>T (p.Gly425=)	Adult hypophosphatasia [RCV005014553]\|not provided [RCV001398541]	likely benign\|uncertain significance	1	21576607	21576607	Human	1	name
127275333	CV1066823	single nucleotide variant	NM_000478.6(ALPL):c.1296C>A (p.Ser432=)	not provided [RCV001406691]	likely benign	1	21576628	21576628	Human		name
127242049	CV1066828	single nucleotide variant	NM_000478.6(ALPL):c.1416C>T (p.His472=)	not provided [RCV001393276]	likely benign	1	21577489	21577489	Human		name
127247542	CV1066829	single nucleotide variant	NM_000478.6(ALPL):c.1536G>T (p.Leu512=)	not provided [RCV001399149]	likely benign	1	21577609	21577609	Human		name
127239889	CV1088563	single nucleotide variant	NM_000478.6(ALPL):c.1011C>T (p.Asp337=)	not provided [RCV001423204]	likely benign	1	21575746	21575746	Human		name
127277710	CV1088564	single nucleotide variant	NM_000478.6(ALPL):c.1056G>A (p.Ala352=)	Adult hypophosphatasia [RCV002504729]\|not provided [RCV001444584]	likely benign	1	21575791	21575791	Human	1	name
127269670	CV1088565	single nucleotide variant	NM_000478.6(ALPL):c.1071G>A (p.Arg357=)	ALPL-related disorder [RCV004728725]\|not provided [RCV001441137]	likely benign	1	21575806	21575806	Human	1	name , alternate_id
127256066	CV1088567	single nucleotide variant	NM_000478.6(ALPL):c.1143C>T (p.His381=)	Adult hypophosphatasia [RCV002495584]\|not provided [RCV001426736]	likely benign	1	21575878	21575878	Human	1	name
127248512	CV1088568	single nucleotide variant	NM_000478.6(ALPL):c.1173T>C (p.Arg391=)	not provided [RCV001424941]	likely benign	1	21575908	21575908	Human		name
127245860	CV1088569	single nucleotide variant	NM_000478.6(ALPL):c.1176C>G (p.Gly392=)	not provided [RCV001424416]	likely benign	1	21575911	21575911	Human		name
127271280	CV1088574	single nucleotide variant	NM_000478.6(ALPL):c.1197C>T (p.Ala399=)	not provided [RCV001441775]	likely benign	1	21576529	21576529	Human		name
127251224	CV1088575	single nucleotide variant	NM_000478.6(ALPL):c.1224G>A (p.Lys408=)	not provided [RCV001425520]	likely benign	1	21576556	21576556	Human		name
127278938	CV1088576	single nucleotide variant	NM_000478.6(ALPL):c.1287G>A (p.Glu429=)	not provided [RCV001445441]	likely benign	1	21576619	21576619	Human		name
127249728	CV1088577	single nucleotide variant	NM_000478.6(ALPL):c.1296C>G (p.Ser432=)	not provided [RCV001436150]	likely benign	1	21576628	21576628	Human		name
127262132	CV1088578	single nucleotide variant	NM_000478.6(ALPL):c.1305C>T (p.Asp435=)	not provided [RCV001438874]	likely benign	1	21576637	21576637	Human		name
127273473	CV1088580	single nucleotide variant	NM_000478.6(ALPL):c.1353C>T (p.His451=)	not provided [RCV001431639]	likely benign	1	21577426	21577426	Human		name
127283272	CV1088581	single nucleotide variant	NM_000478.6(ALPL):c.1380C>T (p.Ala460=)	ALPL-related disorder [RCV004550187]\|not provided [RCV001448436]	likely benign	1	21577453	21577453	Human	1	name , alternate_id
127276646	CV1088582	single nucleotide variant	NM_000478.6(ALPL):c.1476C>T (p.Ala492=)	ALPL-related disorder [RCV004550156]\|not provided [RCV001432911]	likely benign	1	21577549	21577549	Human	1	name , alternate_id
127280237	CV1088583	single nucleotide variant	NM_000478.6(ALPL):c.1539C>T (p.Leu513=)	not provided [RCV001446334]	likely benign	1	21577612	21577612	Human		name
127278969	CV1088584	single nucleotide variant	NM_000478.6(ALPL):c.1557C>G (p.Pro519=)	not provided [RCV001445457]	likely benign	1	21577630	21577630	Human		name
127245489	CV1088585	single nucleotide variant	NM_000478.6(ALPL):c.1557C>T (p.Pro519=)	not provided [RCV001435221]	likely benign	1	21577630	21577630	Human		name
127296260	CV1110062	single nucleotide variant	NM_000478.6(ALPL):c.1167C>T (p.Thr389=)	not provided [RCV001452702]	likely benign	1	21575902	21575902	Human		name
127311260	CV1110067	single nucleotide variant	NM_000478.6(ALPL):c.1191T>C (p.Gly397=)	not provided [RCV001464127]	likely benign	1	21576523	21576523	Human		name
127293440	CV1110070	single nucleotide variant	NM_000478.6(ALPL):c.1311T>C (p.Ala437=)	not provided [RCV001476595]	likely benign	1	21577384	21577384	Human		name
127321988	CV1110071	single nucleotide variant	NM_000478.6(ALPL):c.1317C>T (p.Asn439=)	not provided [RCV001467426]	likely benign	1	21577390	21577390	Human		name
127335583	CV1110072	single nucleotide variant	NM_000478.6(ALPL):c.1395C>T (p.Gly465=)	not provided [RCV001474378]	likely benign	1	21577468	21577468	Human		name
127333761	CV1110073	single nucleotide variant	NM_000478.6(ALPL):c.1428G>A (p.Glu476=)	not provided [RCV001473123]	likely benign	1	21577501	21577501	Human		name
127308370	CV1110074	single nucleotide variant	NM_000478.6(ALPL):c.1548C>G (p.Ala516=)	not provided [RCV001463294]	likely benign	1	21577621	21577621	Human		name
127308918	CV1130960	single nucleotide variant	NM_000478.6(ALPL):c.1045C>T (p.Leu349=)	not provided [RCV001480718]	likely benign	1	21575780	21575780	Human		name
127337499	CV1130961	single nucleotide variant	NM_000478.6(ALPL):c.1047G>T (p.Leu349=)	Adult hypophosphatasia [RCV002501688]\|not provided [RCV001492882]	likely benign	1	21575782	21575782	Human	1	name
127323819	CV1130967	single nucleotide variant	NM_000478.6(ALPL):c.1365C>T (p.Gly455=)	not provided [RCV001485329]	likely benign	1	21577438	21577438	Human		name
127313824	CV1130968	single nucleotide variant	NM_000478.6(ALPL):c.1392G>A (p.Lys464=)	not provided [RCV001482080]	likely benign	1	21577465	21577465	Human		name
127306740	CV1130969	single nucleotide variant	NM_000478.6(ALPL):c.1422C>T (p.Val474=)	not provided [RCV001500308]	likely benign	1	21577495	21577495	Human		name
127319734	CV1130970	single nucleotide variant	NM_000478.6(ALPL):c.1455G>A (p.Ala485=)	Adult hypophosphatasia [RCV002495721]\|not provided [RCV001483968]	likely benign	1	21577528	21577528	Human	1	name
127288124	CV1130971	single nucleotide variant	NM_000478.6(ALPL):c.1512C>G (p.Gly504=)	not provided [RCV001495107]	likely benign	1	21577585	21577585	Human		name
127323941	CV1130972	single nucleotide variant	NM_000478.6(ALPL):c.1563C>T (p.Ser521=)	not provided [RCV001485357]	likely benign	1	21577636	21577636	Human		name
150338307	CV1174031	single nucleotide variant	NM_000478.6(ALPL):c.127C>T (p.Leu43Phe)	Adult hypophosphatasia [RCV001542259]\|not provided [RCV002032527]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21560691	21560691	Human	1	name
150540632	CV1296420	single nucleotide variant	NM_000478.6(ALPL):c.245G>A (p.Gly82Glu)	not provided [RCV001760487]	uncertain significance	1	21561160	21561160	Human		name
150553181	CV1298215	single nucleotide variant	NM_000478.6(ALPL):c.208G>A (p.Ala70Thr)	not provided [RCV001768828]	uncertain significance	1	21561123	21561123	Human		name
151352667	CV1325273	single nucleotide variant	NM_000478.6(ALPL):c.106A>C (p.Thr36Pro)	ALPL-related disorder [RCV004552033]\|Hypophosphatasia [RCV001813915]\|not provided [RCV003728016]	likely pathogenic\|uncertain significance	1	21560670	21560670	Human	1	name , alternate_id
151352684	CV1325713	single nucleotide variant	NM_000478.6(ALPL):c.140A>T (p.Asn47Ile)	Hypophosphatasia [RCV001815059]\|not specified [RCV005409022]	likely pathogenic\|uncertain significance	1	21560704	21560704	Human	1	name
151352685	CV1325715	single nucleotide variant	NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr)	Hypophosphatasia [RCV001815061]	likely pathogenic	1	21561109	21561109	Human	1	name
151352688	CV1325718	single nucleotide variant	NM_000478.6(ALPL):c.214A>G (p.Ile72Val)	Adult hypophosphatasia [RCV004762189]\|Hypophosphatasia [RCV001815064]\|not provided [RCV004774469]	pathogenic\|likely pathogenic	1	21561129	21561129	Human	2	name
151354597	CV1329730	single nucleotide variant	NM_000478.6(ALPL):c.146A>T (p.Asn49Ile)	Hypophosphatasia [RCV001818095]	likely pathogenic	1	21560710	21560710	Human	1	name
151662283	CV1330309	single nucleotide variant	NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)	ALPL-related disorder [RCV004552045]\|Adult hypophosphatasia [RCV002489891]\|Hypophosphatasia [RCV001823791]\|not provided [RCV005095289]	pathogenic\|likely pathogenic	1	21561162	21561162	Human	2	name , alternate_id
151763336	CV1339213	single nucleotide variant	NM_000478.6(ALPL):c.284T>A (p.Val95Glu)	not provided [RCV002008123]	likely pathogenic	1	21561199	21561199	Human		name
151854355	CV1372634	single nucleotide variant	NM_000478.6(ALPL):c.241C>T (p.Pro81Ser)	Adult hypophosphatasia [RCV002479719]\|not provided [RCV001996353]	uncertain significance	1	21561156	21561156	Human	1	name
151813393	CV1382175	single nucleotide variant	NM_000478.6(ALPL):c.267G>C (p.Met89Ile)	not provided [RCV001992047]	uncertain significance	1	21561182	21561182	Human		name
151811064	CV1393503	duplication	NM_000478.6(ALPL):c.388dup (p.Val130fs)	not provided [RCV001953824]	pathogenic	1	21563195	21563196	Human		name
151880175	CV1475342	single nucleotide variant	NM_000478.6(ALPL):c.118G>A (p.Ala40Thr)	not provided [RCV001961545]	likely pathogenic	1	21560682	21560682	Human		name
151846356	CV1488200	single nucleotide variant	NM_000478.6(ALPL):c.181G>A (p.Gly61Arg)	not provided [RCV001995386]	uncertain significance	1	21560745	21560745	Human		name
151888992	CV1509359	deletion	NM_000478.6(ALPL):c.480del (p.Val161fs)	Adult hypophosphatasia [RCV003470959]\|not provided [RCV001888085]	pathogenic	1	21564048	21564048	Human	1	name
152175652	CV1527026	single nucleotide variant	NM_000478.6(ALPL):c.1212C>T (p.Asp404=)	not provided [RCV002163788]	likely benign	1	21576544	21576544	Human		name
152169776	CV1529352	single nucleotide variant	NM_000478.6(ALPL):c.1233T>C (p.Thr411=)	not provided [RCV002161554]	likely benign	1	21576565	21576565	Human		name
152152694	CV1533349	single nucleotide variant	NM_000478.6(ALPL):c.1182T>C (p.Ser394=)	not provided [RCV002102472]	likely benign	1	21575917	21575917	Human		name
152168509	CV1548047	single nucleotide variant	NM_000478.6(ALPL):c.1152A>T (p.Thr384=)	not provided [RCV002161147]	likely benign	1	21575887	21575887	Human		name
152149883	CV1555804	single nucleotide variant	NM_000478.6(ALPL):c.1227C>T (p.Pro409=)	not provided [RCV002179282]	likely benign	1	21576559	21576559	Human		name
152077297	CV1564656	single nucleotide variant	NM_000478.6(ALPL):c.1461A>C (p.Ala487=)	not provided [RCV002192582]	likely benign	1	21577534	21577534	Human		name
152098281	CV1578402	single nucleotide variant	NM_000478.6(ALPL):c.1389C>G (p.Ser463=)	not provided [RCV002151480]	likely benign	1	21577462	21577462	Human		name
152126604	CV1582370	single nucleotide variant	NM_000478.6(ALPL):c.1503C>T (p.Ser501=)	not provided [RCV002198759]	likely benign\|conflicting interpretations of pathogenicity	1	21577576	21577576	Human		name
152153209	CV1592024	single nucleotide variant	NM_000478.6(ALPL):c.1548C>T (p.Ala516=)	not provided [RCV002102553]	likely benign	1	21577621	21577621	Human		name
152062377	CV1595095	single nucleotide variant	NM_000478.6(ALPL):c.1329G>T (p.Ala443=)	not provided [RCV002190682]	likely benign	1	21577402	21577402	Human		name
152175265	CV1602158	single nucleotide variant	NM_000478.6(ALPL):c.1233T>G (p.Thr411=)	not provided [RCV002163446]	likely benign	1	21576565	21576565	Human		name
152100790	CV1606773	single nucleotide variant	NM_000478.6(ALPL):c.1329G>C (p.Ala443=)	not provided [RCV002195520]	likely benign	1	21577402	21577402	Human		name
152049943	CV1615223	single nucleotide variant	NM_000478.6(ALPL):c.1035C>T (p.Ala345=)	not provided [RCV002089025]	likely benign	1	21575770	21575770	Human		name
152074270	CV1647459	single nucleotide variant	NM_000478.6(ALPL):c.1110C>T (p.Asp370=)	not provided [RCV002210384]	likely benign	1	21575845	21575845	Human		name
152131894	CV1663736	single nucleotide variant	NM_000478.6(ALPL):c.1278T>C (p.Gly426=)	not provided [RCV002155651]	likely benign	1	21576610	21576610	Human		name
155644175	CV1706965	single nucleotide variant	NM_000478.6(ALPL):c.166A>G (p.Met56Val)	not provided [RCV002290920]	uncertain significance	1	21560730	21560730	Human		name
155722736	CV1781494	deletion	NM_000478.6(ALPL):c.799del (p.His267fs)	Adult hypophosphatasia [RCV002306522]	likely pathogenic	1	21570309	21570309	Human	1	name
155735357	CV1782968	deletion	NM_000478.6(ALPL):c.394del (p.Ala132fs)	Adult hypophosphatasia [RCV002309125]	likely pathogenic	1	21563206	21563206	Human	1	name
155737329	CV1784422	deletion	NM_000478.6(ALPL):c.511del (p.His171fs)	Adult hypophosphatasia [RCV002310579]	likely pathogenic	1	21564078	21564078	Human	1	name
10042239	CV186615	single nucleotide variant	NM_000478.6(ALPL):c.215T>C (p.Ile72Thr)	ALPL-related disorder [RCV004552944]\|Adult hypophosphatasia [RCV003474904]\|Adult hypophosphatasia [RCV005008090]\|Infantile hypophosphatasia [RCV000169295]\|not provided [RCV001204937]	pathogenic\|likely pathogenic	1	21561130	21561130	Human	3	name , alternate_id
156407266	CV1875110	single nucleotide variant	NM_000478.6(ALPL):c.163A>G (p.Ile55Val)	not provided [RCV003070795]	uncertain significance	1	21560727	21560727	Human		name
155943638	CV1878854	single nucleotide variant	NM_000478.6(ALPL):c.1497T>C (p.Pro499=)	not provided [RCV003073706]	likely benign	1	21577570	21577570	Human		name
156315762	CV1928362	single nucleotide variant	NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)	ALPL-related disorder [RCV004741421]\|Adult hypophosphatasia [RCV003475519]\|not provided [RCV002630052]	likely pathogenic	1	21560674	21560674	Human	2	name , alternate_id
156438523	CV1947132	single nucleotide variant	NM_000478.6(ALPL):c.278C>T (p.Pro93Leu)	not provided [RCV003108467]	likely pathogenic	1	21561193	21561193	Human		name
156415668	CV1955548	single nucleotide variant	NM_000478.6(ALPL):c.145A>G (p.Asn49Asp)	Adult hypophosphatasia [RCV005008637]\|not provided [RCV002589298]	likely pathogenic\|uncertain significance	1	21560709	21560709	Human	1	name
156158298	CV1967747	deletion	NM_000478.6(ALPL):c.814del (p.Arg272fs)	Adult hypophosphatasia [RCV003465790]\|Hypophosphatasia [RCV005052860]\|not provided [RCV002594376]	pathogenic\|likely pathogenic	1	21570325	21570325	Human	2	name
156374529	CV2003892	single nucleotide variant	NM_000478.6(ALPL):c.143C>T (p.Thr48Ile)	not provided [RCV002653183]	uncertain significance	1	21560707	21560707	Human		name
156398642	CV2013094	single nucleotide variant	NM_000478.6(ALPL):c.148G>A (p.Val50Met)	not provided [RCV002725809]	uncertain significance	1	21560712	21560712	Human		name
155965728	CV2048823	single nucleotide variant	NM_000478.6(ALPL):c.1269G>C (p.Val423=)	not provided [RCV002776480]	likely benign	1	21576601	21576601	Human		name
156022792	CV2055620	single nucleotide variant	NM_000478.6(ALPL):c.289C>A (p.Leu97Ile)	not provided [RCV002820694]	uncertain significance	1	21561204	21561204	Human		name
155935844	CV2058002	single nucleotide variant	NM_000478.6(ALPL):c.1389C>T (p.Ser463=)	not provided [RCV002815365]	likely benign	1	21577462	21577462	Human		name
155918037	CV2073554	single nucleotide variant	NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)	Hypophosphatasia [RCV003447636]\|not provided [RCV002838166]	likely pathogenic\|uncertain significance	1	21561210	21561210	Human	1	name
155997288	CV2074401	single nucleotide variant	NM_000478.6(ALPL):c.182G>A (p.Gly61Glu)	not provided [RCV002843244]	likely pathogenic\|uncertain significance	1	21561097	21561097	Human		name
156218841	CV2087500	deletion	NM_000478.6(ALPL):c.880del (p.Asp294fs)	not provided [RCV002875786]	pathogenic	1	21573679	21573679	Human		name
156234717	CV2093991	single nucleotide variant	NM_000478.6(ALPL):c.1182T>A (p.Ser394=)	not provided [RCV002894688]	likely benign	1	21575917	21575917	Human		name
156088731	CV2095299	single nucleotide variant	NM_000478.6(ALPL):c.1440C>T (p.Val480=)	not provided [RCV002912960]	likely benign	1	21577513	21577513	Human		name
156064510	CV2096474	single nucleotide variant	NM_000478.6(ALPL):c.1137T>C (p.His379=)	not provided [RCV002886614]	likely benign	1	21575872	21575872	Human		name
156026358	CV2100354	single nucleotide variant	NM_000478.6(ALPL):c.1314C>T (p.His438=)	not provided [RCV002885196]	likely benign	1	21577387	21577387	Human		name
155993622	CV2145672	single nucleotide variant	NM_000478.6(ALPL):c.232C>T (p.His78Tyr)	not provided [RCV002996682]	uncertain significance	1	21561147	21561147	Human		name
156142452	CV2177989	single nucleotide variant	NM_000478.6(ALPL):c.1527C>A (p.Gly509=)	not provided [RCV003040086]	likely benign	1	21577600	21577600	Human		name
156393541	CV2181607	single nucleotide variant	NM_000478.6(ALPL):c.1239C>T (p.Ile413=)	not provided [RCV003051594]	likely benign	1	21576571	21576571	Human		name
243063278	CV2411617	single nucleotide variant	NM_000478.6(ALPL):c.116A>G (p.Tyr39Cys)	not provided [RCV003141340]	uncertain significance	1	21560680	21560680	Human		name
11546092	CV249726	single nucleotide variant	NM_000478.6(ALPL):c.1404G>A (p.Ala468=)	ALPL-related disorder [RCV004547628]\|not provided [RCV000981301]	likely benign	1	21577477	21577477	Human	1	name , alternate_id
11549706	CV249727	single nucleotide variant	NM_000478.6(ALPL):c.1542G>T (p.Ala514=)	Hypophosphatasia [RCV000297950]\|Osteogenesis imperfecta [RCV002277610]\|not provided [RCV000710512]\|not specified [RCV000250762]	benign\|likely benign	1	21577615	21577615	Human	2	name
401738737	CV2738362	single nucleotide variant	NM_000478.6(ALPL):c.152C>T (p.Ala51Val)	Adult hypophosphatasia [RCV004572920]\|Hypophosphatasia [RCV003317752]\|not provided [RCV003561293]	likely pathogenic	1	21560716	21560716	Human	2	name
11581877	CV274268	single nucleotide variant	NM_000478.6(ALPL):c.1002C>T (p.Gly334=)	Hypophosphatasia [RCV000388202]\|not provided [RCV000726419]\|not specified [RCV003488505]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21575737	21575737	Human	1	name
11636936	CV274555	single nucleotide variant	NM_000478.6(ALPL):c.1479C>T (p.Asn493=)	not provided [RCV000277194]	conflicting interpretations of pathogenicity\|uncertain significance	1	21577552	21577552	Human		name
11580786	CV278895	single nucleotide variant	NM_000478.6(ALPL):c.1119C>T (p.Thr373=)	Hypophosphatasia [RCV000344290]\|Osteogenesis imperfecta [RCV002278336]\|not provided [RCV000710509]	benign\|likely benign	1	21575854	21575854	Human	2	name
11580675	CV278903	single nucleotide variant	NM_000478.6(ALPL):c.1329G>A (p.Ala443=)	Hypophosphatasia [RCV000341004]\|not provided [RCV001425435]	likely benign\|uncertain significance	1	21577402	21577402	Human	1	name
11579527	CV279040	single nucleotide variant	NM_000478.6(ALPL):c.1425C>T (p.His475=)	Hypophosphatasia [RCV000306160]\|not provided [RCV000885116]	likely benign\|uncertain significance	1	21577498	21577498	Human	1	name
11582221	CV279041	single nucleotide variant	NM_000478.6(ALPL):c.1542G>A (p.Ala514=)	Hypophosphatasia [RCV000402710]\|not provided [RCV000977439]	likely benign\|uncertain significance	1	21577615	21577615	Human	1	name
11589290	CV280337	single nucleotide variant	NM_000478.6(ALPL):c.107C>T (p.Thr36Ile)	Hypophosphatasia [RCV000309784]\|not provided [RCV005090425]	likely pathogenic\|uncertain significance	1	21560671	21560671	Human	1	name
11581808	CV280339	single nucleotide variant	NM_000478.6(ALPL):c.1131G>A (p.Ala377=)	Hypophosphatasia [RCV000385133]\|not provided [RCV001486728]	likely benign\|uncertain significance	1	21575866	21575866	Human	1	name
11580729	CV280349	single nucleotide variant	NM_000478.6(ALPL):c.1506G>A (p.Ser502=)	Hypophosphatasia [RCV000342385]\|not provided [RCV001426054]	likely benign\|uncertain significance	1	21577579	21577579	Human	1	name
11578791	CV280393	single nucleotide variant	NM_000478.6(ALPL):c.1014C>T (p.His338=)	ALPL-related disorder [RCV004549651]\|Hypophosphatasia [RCV000289246]\|not provided [RCV000939251]	likely benign\|uncertain significance	1	21575749	21575749	Human	1	name , alternate_id
401935442	CV2812433	single nucleotide variant	NM_000478.6(ALPL):c.184A>T (p.Met62Leu)	not provided [RCV003412871]	uncertain significance	1	21561099	21561099	Human		name
405854983	CV2829348	single nucleotide variant	NM_000478.6(ALPL):c.1161A>G (p.Gly387=)	Infantile hypophosphatasia [RCV004555665]	likely pathogenic	1	21575896	21575896	Human	1	name
401947037	CV2832135	single nucleotide variant	NM_000478.6(ALPL):c.244G>A (p.Gly82Arg)	Hypophosphatasia [RCV003447660]	likely pathogenic	1	21561159	21561159	Human	1	name
401947099	CV2832313	single nucleotide variant	NM_000478.6(ALPL):c.244G>C (p.Gly82Arg)	Hypophosphatasia [RCV003447838]	likely pathogenic	1	21561159	21561159	Human	1	name
401948459	CV2832575	single nucleotide variant	NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)	Hypophosphatasia [RCV003448555]\|not provided [RCV003708802]	likely pathogenic	1	21560740	21560740	Human	1	name
401950080	CV2832850	single nucleotide variant	NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)	Adult hypophosphatasia [RCV003476483]\|not provided [RCV003553956]	pathogenic\|likely pathogenic	1	21561126	21561126	Human	1	name
401941541	CV2832885	single nucleotide variant	NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)	Adult hypophosphatasia [RCV003461858]\|Adult hypophosphatasia [RCV005021973]	likely pathogenic	1	21561141	21561141	Human	1	name
401948636	CV2839342	single nucleotide variant	NM_000478.6(ALPL):c.286G>C (p.Ala96Pro)	Hypophosphatasia [RCV003448898]	likely pathogenic	1	21561201	21561201	Human	1	name
405171202	CV2864283	single nucleotide variant	NM_000478.6(ALPL):c.1113T>A (p.Thr371=)	not provided [RCV003542179]	likely benign	1	21575848	21575848	Human		name
8599491	CV28702	single nucleotide variant	NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	ALPL-related disorder [RCV004739304]\|Adult hypophosphatasia [RCV003466857]\|Hypophosphatasia [RCV004700234]\|Infantile hypophosphatasia [RCV000014649]\|not provided [RCV001851857]	pathogenic\|likely pathogenic	1	21561126	21561126	Human	3	name , alternate_id
8599493	CV28704	single nucleotide variant	NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)	Adult hypophosphatasia [RCV003460473]\|Hypophosphatasia [RCV003486545]\|Infantile hypophosphatasia [RCV000014653]\|not provided [RCV001362179]	pathogenic\|likely pathogenic\|uncertain significance	1	21561127	21561127	Human	3	name
405218824	CV2873624	single nucleotide variant	NM_000478.6(ALPL):c.1281A>G (p.Glu427=)	not provided [RCV003553469]	likely benign	1	21576613	21576613	Human		name
402495666	CV2875195	single nucleotide variant	NM_000478.6(ALPL):c.275T>C (p.Phe92Ser)	not provided [RCV003545371]	uncertain significance	1	21561190	21561190	Human		name
405158322	CV2898171	single nucleotide variant	NM_000478.6(ALPL):c.211C>G (p.Arg71Gly)	not provided [RCV003562213]	pathogenic	1	21561126	21561126	Human		name
405194920	CV2921932	single nucleotide variant	NM_000478.6(ALPL):c.1104G>T (p.Ser368=)	not provided [RCV003565263]	likely benign	1	21575839	21575839	Human		name
402507214	CV2924208	single nucleotide variant	NM_000478.6(ALPL):c.1003A>C (p.Arg335=)	not provided [RCV003574579]	likely benign	1	21575738	21575738	Human		name
402506236	CV2927727	single nucleotide variant	NM_000478.6(ALPL):c.1320C>T (p.Asn440=)	not provided [RCV003574405]	likely benign	1	21577393	21577393	Human		name
405071386	CV2944268	single nucleotide variant	NM_000478.6(ALPL):c.167T>C (p.Met56Thr)	Inborn genetic diseases [RCV004985459]\|not provided [RCV003659443]	uncertain significance	1	21560731	21560731	Human	1	name
405247220	CV2966682	deletion	NM_000478.6(ALPL):c.793del (p.His265fs)	not provided [RCV003685620]	pathogenic	1	21570305	21570305	Human		name
405190508	CV2968390	single nucleotide variant	NM_000478.6(ALPL):c.1512C>A (p.Gly504=)	not provided [RCV003677051]	likely benign	1	21577585	21577585	Human		name
405212142	CV2974451	single nucleotide variant	NM_000478.6(ALPL):c.1089C>T (p.Gly363=)	not provided [RCV003679549]	likely benign	1	21575824	21575824	Human		name
405022343	CV2992828	single nucleotide variant	NM_000478.6(ALPL):c.1344C>T (p.Pro448=)	not provided [RCV003694875]	likely benign	1	21577417	21577417	Human		name
402509700	CV2994700	single nucleotide variant	NM_000478.6(ALPL):c.1569G>C (p.Leu523=)	not provided [RCV003689441]	likely benign	1	21577642	21577642	Human		name
402520340	CV3002514	single nucleotide variant	NM_000478.6(ALPL):c.187G>T (p.Gly63Cys)	not provided [RCV003690247]	likely pathogenic	1	21561102	21561102	Human		name
402496543	CV3005889	single nucleotide variant	NM_000478.6(ALPL):c.1533G>A (p.Leu511=)	not provided [RCV003688068]	likely benign	1	21577606	21577606	Human		name
404999049	CV3008767	deletion	NM_000478.6(ALPL):c.930del (p.Glu311fs)	not provided [RCV003692898]	pathogenic	1	21573731	21573731	Human		name
405127629	CV3013864	single nucleotide variant	NM_000478.6(ALPL):c.1227C>G (p.Pro409=)	not provided [RCV003701367]	likely benign	1	21576559	21576559	Human		name
405123554	CV3021044	single nucleotide variant	NM_000478.6(ALPL):c.1335T>C (p.Ser445=)	not provided [RCV003701012]	likely benign	1	21577408	21577408	Human		name
405172073	CV3030286	single nucleotide variant	NM_000478.6(ALPL):c.1062G>A (p.Glu354=)	not provided [RCV003704764]	likely benign	1	21575797	21575797	Human		name
405237774	CV3077755	single nucleotide variant	NM_000478.6(ALPL):c.1059G>A (p.Val353=)	not provided [RCV003736230]	likely benign	1	21575794	21575794	Human		name
405196411	CV3146621	single nucleotide variant	NM_000478.6(ALPL):c.1116G>A (p.Leu372=)	not provided [RCV003843976]	likely benign	1	21575851	21575851	Human		name
405054003	CV3151280	single nucleotide variant	NM_000478.6(ALPL):c.1056G>T (p.Ala352=)	not provided [RCV003849689]	likely benign	1	21575791	21575791	Human		name
405173134	CV3151860	single nucleotide variant	NM_000478.6(ALPL):c.1554C>T (p.Tyr518=)	not provided [RCV003858011]	likely benign	1	21577627	21577627	Human		name
405162447	CV3160093	single nucleotide variant	NM_000478.6(ALPL):c.1398C>A (p.Pro466=)	not provided [RCV003857164]	likely benign	1	21577471	21577471	Human		name
405216814	CV3160889	single nucleotide variant	NM_000478.6(ALPL):c.1017G>A (p.Gly339=)	not provided [RCV003862951]	likely benign	1	21575752	21575752	Human		name
405200547	CV3164569	single nucleotide variant	NM_000478.6(ALPL):c.1530C>T (p.Pro510=)	not provided [RCV003860626]	likely benign	1	21577603	21577603	Human		name
402472929	CV3172072	single nucleotide variant	NM_000478.6(ALPL):c.1458T>C (p.Tyr486=)	not provided [RCV003874675]	likely benign	1	21577531	21577531	Human		name
402479059	CV3174385	single nucleotide variant	NM_000478.6(ALPL):c.1068C>T (p.Asp356=)	not provided [RCV003875732]	likely benign	1	21575803	21575803	Human		name
405252101	CV3177513	single nucleotide variant	NM_000478.6(ALPL):c.146A>G (p.Asn49Ser)	not provided [RCV003870471]\|not specified [RCV004701857]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21560710	21560710	Human		name
404991954	CV3184359	duplication	NM_000478.6(ALPL):c.412dup (p.Arg138fs)	Hypophosphatasia [RCV003881689]	pathogenic	1	21563221	21563222	Human	1	name
405281891	CV3224570	single nucleotide variant	NM_000478.6(ALPL):c.293C>T (p.Ser98Phe)	Adult hypophosphatasia [RCV003988905]	uncertain significance	1	21561208	21561208	Human	1	name
405691928	CV3227612	single nucleotide variant	NM_000478.6(ALPL):c.173T>C (p.Leu58Pro)	Adult hypophosphatasia [RCV003991958]	likely pathogenic	1	21560737	21560737	Human	1	name
407427701	CV3410872	single nucleotide variant	NM_000478.6(ALPL):c.206C>T (p.Ala69Val)	Hypophosphatasia [RCV004586512]	uncertain significance	1	21561121	21561121	Human	1	name
408371686	CV3517960	single nucleotide variant	NM_000478.6(ALPL):c.267G>A (p.Met89Ile)	ALPL-related disorder [RCV004741019]	uncertain significance	1	21561182	21561182	Human		name , trait , alternate_id
408395098	CV3522387	single nucleotide variant	NM_000478.6(ALPL):c.164T>A (p.Ile55Asn)	Hypophosphatasia [RCV004765462]	likely pathogenic	1	21560728	21560728	Human	1	name
408382873	CV3525702	single nucleotide variant	NM_000478.6(ALPL):c.226C>A (p.Gln76Lys)	not specified [RCV004766612]	uncertain significance	1	21561141	21561141	Human		name
12739136	CV357058	single nucleotide variant	NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)	Hypophosphatasia [RCV001175579]\|Infantile hypophosphatasia [RCV000408970]\|not provided [RCV001389814]	pathogenic\|likely pathogenic	1	21560694	21560694	Human	2	name
12739483	CV357060	deletion	NM_000478.6(ALPL):c.522del (p.Ser175fs)	Adult hypophosphatasia [RCV003470341]\|Adult hypophosphatasia [RCV005010293]\|Hypophosphatasia [RCV002230216]\|Infantile hypophosphatasia [RCV000409728]\|not provided [RCV000710515]	pathogenic\|likely pathogenic	1	21564086	21564086	Human	3	name
12740461	CV357062	duplication	NM_000478.6(ALPL):c.662dup (p.Gly222fs)	Adult hypophosphatasia [RCV004567875]\|Infantile hypophosphatasia [RCV000412052]\|not provided [RCV001042114]	pathogenic\|likely pathogenic	1	21568111	21568112	Human	2	name
12740397	CV357063	deletion	NM_000478.6(ALPL):c.841del (p.His281fs)	Infantile hypophosphatasia [RCV000411878]\|not provided [RCV003546559]	pathogenic\|likely pathogenic	1	21570349	21570349	Human	1	name
12739270	CV357064	deletion	NM_000478.6(ALPL):c.903del (p.Asn302fs)	Infantile hypophosphatasia [RCV000409238]\|not provided [RCV005090649]	pathogenic\|likely pathogenic	1	21573704	21573704	Human	1	name
12833528	CV364769	single nucleotide variant	NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)	Adult hypophosphatasia [RCV004567908]\|Osteogenesis imperfecta [RCV002278676]\|not provided [RCV000418683]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21561142	21561142	Human	2	name
597685205	CV3700739	single nucleotide variant	NM_000478.6(ALPL):c.257G>A (p.Arg86Lys)	Inborn genetic diseases [RCV004983942]	uncertain significance	1	21561172	21561172	Human	1	name
597629281	CV3700746	single nucleotide variant	NM_000478.6(ALPL):c.166A>C (p.Met56Leu)	Adult hypophosphatasia [RCV005017354]\|Inborn genetic diseases [RCV004983944]	uncertain significance	1	21560730	21560730	Human	2	name
597626916	CV3711632	duplication	NM_000478.6(ALPL):c.684dup (p.Lys229fs)	Adult hypophosphatasia [RCV005022310]	likely pathogenic	1	21568135	21568136	Human	1	name
597692324	CV3715276	single nucleotide variant	NM_000478.6(ALPL):c.101A>C (p.Gln34Pro)	Adult hypophosphatasia [RCV005007501]	uncertain significance	1	21560665	21560665	Human	1	name
597838792	CV3758283	single nucleotide variant	NM_000478.6(ALPL):c.137T>C (p.Leu46Pro)	not provided [RCV005086118]	uncertain significance	1	21560701	21560701	Human		name
597871910	CV3768422	duplication	NM_000478.6(ALPL):c.841dup (p.His281fs)	not provided [RCV005122801]	pathogenic	1	21570348	21570349	Human		name
597909636	CV3770270	single nucleotide variant	NM_000478.6(ALPL):c.163A>T (p.Ile55Phe)	not provided [RCV005113571]	uncertain significance	1	21560727	21560727	Human		name
597909647	CV3770271	single nucleotide variant	NM_000478.6(ALPL):c.197C>G (p.Thr66Arg)	not provided [RCV005113572]	likely pathogenic	1	21561112	21561112	Human		name
597910991	CV3770272	single nucleotide variant	NM_000478.6(ALPL):c.281T>C (p.Phe94Ser)	not provided [RCV005113573]	uncertain significance	1	21561196	21561196	Human		name
597937108	CV3807777	single nucleotide variant	NM_000478.6(ALPL):c.197C>T (p.Thr66Ile)	not provided [RCV005158156]	uncertain significance	1	21561112	21561112	Human		name
597911360	CV3816922	single nucleotide variant	NM_000478.6(ALPL):c.1023T>C (p.His341=)	not provided [RCV005154319]	likely benign	1	21575758	21575758	Human		name
597863833	CV3860779	deletion	NM_000478.6(ALPL):c.846del (p.Asn282fs)	not provided [RCV005196307]	pathogenic	1	21570358	21570358	Human		name
598122495	CV3884430	single nucleotide variant	NM_000478.6(ALPL):c.228G>T (p.Gln76His)	Hypophosphatasia [RCV005237122]	likely pathogenic	1	21561143	21561143	Human	1	name
616933587	CV4013557	single nucleotide variant	NM_000478.6(ALPL):c.1356G>A (p.Glu452=)	Hypophosphatasia [RCV005411099]	uncertain significance	1	21577429	21577429	Human	1	name
12911247	CV417652	single nucleotide variant	NM_000478.6(ALPL):c.283G>A (p.Val95Met)	Adult hypophosphatasia [RCV001535923]\|Adult hypophosphatasia [RCV003470594]\|Childhood hypophosphatasia [RCV001580504]\|Decreased circulating alkaline phosphatase activity [RCV000490714]\|Hypophosphatasia [RCV001273158]\|Infantile hypophosphatasia [RCV004568606]\|Osteogenesis imperfecta [RCV002279265]\|no ... (more) t provided [RCV001067182]	pathogenic\|likely pathogenic\|uncertain significance	1	21561198	21561198	Human	6	name
13515524	CV491448	single nucleotide variant	NM_000478.6(ALPL):c.188G>T (p.Gly63Val)	Adult hypophosphatasia [RCV005010577]\|not provided [RCV000595916]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21561103	21561103	Human	1	name
13785513	CV540783	single nucleotide variant	NM_000478.6(ALPL):c.262G>A (p.Glu88Lys)	Infantile hypophosphatasia [RCV000664832]\|not provided [RCV002530636]\|not specified [RCV004702274]	pathogenic\|uncertain significance	1	21561177	21561177	Human	1	name
13785669	CV540812	deletion	NM_000478.6(ALPL):c.427del (p.Gln143fs)	Infantile hypophosphatasia [RCV000670188]\|not provided [RCV003558505]	pathogenic\|likely pathogenic	1	21563237	21563237	Human	1	name
13785808	CV540824	deletion	NM_000478.6(ALPL):c.392del (p.Ser131fs)	Infantile hypophosphatasia [RCV000674696]\|not provided [RCV001382224]	pathogenic\|likely pathogenic	1	21563204	21563204	Human	1	name
13785571	CV540947	deletion	NM_000478.6(ALPL):c.963del (p.Lys322fs)	Adult hypophosphatasia [RCV003465462]\|Infantile hypophosphatasia [RCV000667084]\|not provided [RCV003558490]	pathogenic\|likely pathogenic	1	21573764	21573764	Human	2	name
15159151	CV718635	single nucleotide variant	NM_000478.6(ALPL):c.1362C>T (p.His454=)	not provided [RCV000881141]	likely benign	1	21577435	21577435	Human		name
15113841	CV718636	single nucleotide variant	NM_000478.6(ALPL):c.1437C>T (p.Tyr479=)	Adult hypophosphatasia [RCV002479020]\|not provided [RCV000894745]	likely benign	1	21577510	21577510	Human	1	name
15151849	CV746104	single nucleotide variant	NM_000478.6(ALPL):c.1482C>T (p.Leu494=)	Adult hypophosphatasia [RCV002495546]\|Hypophosphatasia [RCV001832084]\|not provided [RCV000923758]	benign\|likely benign	1	21577555	21577555	Human	2	name
15144340	CV761575	single nucleotide variant	NM_000478.6(ALPL):c.1419C>T (p.Gly473=)	Adult hypophosphatasia [RCV002489275]\|Hypophosphatasia [RCV001277098]\|not provided [RCV000944395]	likely benign\|uncertain significance	1	21577492	21577492	Human	2	name
15184076	CV761576	single nucleotide variant	NM_000478.6(ALPL):c.1464C>T (p.Ala488=)	not provided [RCV000930728]	likely benign	1	21577537	21577537	Human		name
15135807	CV780521	single nucleotide variant	NM_000478.6(ALPL):c.1104G>A (p.Ser368=)	not provided [RCV000981994]	likely benign	1	21575839	21575839	Human		name
15106950	CV780522	single nucleotide variant	NM_000478.6(ALPL):c.1176C>T (p.Gly392=)	not provided [RCV000976726]	likely benign	1	21575911	21575911	Human		name
15127246	CV780524	single nucleotide variant	NM_000478.6(ALPL):c.1245T>C (p.Tyr415=)	Hypophosphatasia [RCV001277097]\|not provided [RCV000980515]	likely benign	1	21576577	21576577	Human	1	name
15142778	CV780525	single nucleotide variant	NM_000478.6(ALPL):c.1290T>C (p.Asn430=)	Hypophosphatasia [RCV001827118]\|not provided [RCV000983215]	likely benign	1	21576622	21576622	Human	1	name
15123276	CV780526	single nucleotide variant	NM_000478.6(ALPL):c.1323C>T (p.Tyr441=)	not provided [RCV000979805]	likely benign	1	21577396	21577396	Human		name
15105486	CV780527	single nucleotide variant	NM_000478.6(ALPL):c.1374C>T (p.Asp458=)	not provided [RCV000976443]	likely benign	1	21577447	21577447	Human		name
15107353	CV780528	single nucleotide variant	NM_000478.6(ALPL):c.1446C>T (p.His482=)	Adult hypophosphatasia [RCV002488066]\|Hypophosphatasia [RCV001279678]\|not provided [RCV000976810]	likely benign\|uncertain significance	1	21577519	21577519	Human	2	name
21405897	CV799156	single nucleotide variant	NM_000478.6(ALPL):c.1470C>T (p.Ile490=)	Hypophosphatasia [RCV001277099]\|Inborn genetic diseases [RCV004986733]\|not provided [RCV001502814]\|not specified [RCV001001362]	likely benign	1	21577543	21577543	Human	2	name
26887695	CV823326	single nucleotide variant	NM_000478.6(ALPL):c.270C>G (p.Asp90Glu)	Hypophosphatasia [RCV001273157]\|not provided [RCV001035981]	uncertain significance	1	21561185	21561185	Human	1	name
26888876	CV823353	deletion	NM_000478.6(ALPL):c.715del (p.Asp239fs)	not provided [RCV001057072]	pathogenic	1	21568170	21568170	Human		name
28895441	CV863522	single nucleotide variant	NM_000478.6(ALPL):c.1263C>T (p.Tyr421=)	ALPL-related disorder [RCV004547985]\|Hypophosphatasia [RCV001101805]\|not provided [RCV001395014]	likely benign\|uncertain significance	1	21576595	21576595	Human	1	name , alternate_id
28879973	CV863523	single nucleotide variant	NM_000478.6(ALPL):c.1557C>A (p.Pro519=)	Hypophosphatasia [RCV001096385]\|not provided [RCV001461342]	likely benign\|uncertain significance	1	21577630	21577630	Human	1	name
34895367	CV916812	single nucleotide variant	NM_000478.6(ALPL):c.178G>C (p.Asp60His)	Hypophosphatasia [RCV001822864]\|not provided [RCV001351723]\|not specified [RCV001192372]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21560742	21560742	Human	1	name
38597728	CV964143	single nucleotide variant	NM_000478.6(ALPL):c.119C>T (p.Ala40Val)	ALPL-related disorder [RCV004740636]\|Adult hypophosphatasia [RCV001253054]\|Adult hypophosphatasia [RCV005012697]\|Hypophosphatasia [RCV001264416]\|not provided [RCV001389813]	pathogenic\|likely pathogenic\|uncertain significance	1	21560683	21560683	Human	2	name , alternate_id
40906318	CV977494	single nucleotide variant	NM_000478.6(ALPL):c.1567C>T (p.Leu523=)	Hypophosphatasia [RCV001279679]\|not provided [RCV002537861]	likely benign\|uncertain significance	1	21577640	21577640	Human	1	name
40906319	CV977495	single nucleotide variant	NM_000478.6(ALPL):c.1574G>A (p.Ter525=)	Hypophosphatasia [RCV001279680]\|not provided [RCV005094316]	likely benign\|uncertain significance	1	21577647	21577647	Human	1	name
42723952	CV983942	deletion	NM_000478.6(ALPL):c.662del (p.Gly221fs)	Adult hypophosphatasia [RCV003469505]\|Hypophosphatasia [RCV001290555]\|not provided [RCV001863158]	pathogenic\|likely pathogenic	1	21568112	21568112	Human	2	name
126747145	CV1002488	single nucleotide variant	NM_000478.6(ALPL):c.701T>G (p.Val234Gly)	not provided [RCV001326115]	uncertain significance	1	21568156	21568156	Human		name
126727572	CV1022925	single nucleotide variant	NM_000478.6(ALPL):c.610A>T (p.Ile204Phe)	not provided [RCV001348730]\|not specified [RCV005408856]	uncertain significance	1	21564178	21564178	Human		name
126747722	CV1022942	single nucleotide variant	NM_000478.6(ALPL):c.655A>G (p.Met219Val)	Adult hypophosphatasia [RCV003469587]\|Hypophosphatasia [RCV001825976]\|not provided [RCV001351724]	pathogenic\|likely pathogenic\|uncertain significance	1	21568110	21568110	Human	2	name
126753437	CV1022943	single nucleotide variant	NM_000478.6(ALPL):c.661G>T (p.Gly221Cys)	not provided [RCV001338594]	likely pathogenic\|uncertain significance	1	21568116	21568116	Human		name
126764778	CV1022945	single nucleotide variant	NM_000478.6(ALPL):c.957C>G (p.Ile319Met)	Inborn genetic diseases [RCV002547411]\|not provided [RCV001341784]	uncertain significance	1	21573759	21573759	Human	1	name
126920880	CV1039775	single nucleotide variant	NM_000478.6(ALPL):c.335G>C (p.Gly112Ala)	not provided [RCV001374069]	pathogenic\|uncertain significance	1	21563147	21563147	Human		name
126923634	CV1039776	single nucleotide variant	NM_000478.6(ALPL):c.371A>G (p.Asn124Ser)	Adult hypophosphatasia [RCV005014495]\|Hypophosphatasia [RCV004554858]\|not provided [RCV001366072]	likely pathogenic\|uncertain significance	1	21563183	21563183	Human	2	name
127251559	CV1054791	single nucleotide variant	NM_000478.6(ALPL):c.508A>G (p.Asn170Asp)	Adult hypophosphatasia [RCV003469635]\|Hypophosphatasia [RCV001826142]\|not provided [RCV001378581]	likely pathogenic	1	21564076	21564076	Human	2	name
127233973	CV1058557	single nucleotide variant	NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)	Adult hypophosphatasia [RCV003469765]\|Infantile hypophosphatasia [RCV001449738]\|not provided [RCV001389868]	pathogenic\|likely pathogenic	1	21563115	21563115	Human	2	name
127270802	CV1058563	single nucleotide variant	NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)	Adult hypophosphatasia [RCV003473994]\|Hypophosphatasia [RCV002282538]\|not provided [RCV001389954]	pathogenic\|likely pathogenic	1	21564052	21564052	Human	2	name
127270806	CV1058566	single nucleotide variant	NM_000478.6(ALPL):c.532T>C (p.Tyr178His)	Adult hypophosphatasia [RCV003463033]\|Adult hypophosphatasia [RCV004796630]\|Hypophosphatasia [RCV004526122]\|Micromelia [RCV002286432]\|not provided [RCV001389955]	pathogenic\|likely pathogenic	1	21564100	21564100	Human	4	name
127258964	CV1058567	single nucleotide variant	NM_000478.6(ALPL):c.558G>A (p.Trp186Ter)	Hypophosphatasia [RCV003771260]\|not provided [RCV001387054]	pathogenic	1	21564126	21564126	Human	1	name
127270809	CV1058583	single nucleotide variant	NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)	Adult hypophosphatasia [RCV003473995]\|Adult hypophosphatasia [RCV005014548]\|Hypophosphatasia [RCV001831402]\|Infantile hypophosphatasia [RCV005232309]\|not provided [RCV001389956]	pathogenic\|likely pathogenic	1	21568114	21568114	Human	3	name
127240772	CV1058586	single nucleotide variant	NM_000478.6(ALPL):c.886C>T (p.Gln296Ter)	not provided [RCV001383520]	pathogenic	1	21573688	21573688	Human		name
127260297	CV1058587	single nucleotide variant	NM_000478.6(ALPL):c.976G>C (p.Gly326Arg)	ALPL-related disorder [RCV004740679]\|Adult hypophosphatasia [RCV003469729]\|Adult hypophosphatasia [RCV005014538]\|Inborn genetic diseases [RCV002551555]\|not provided [RCV001387322]	pathogenic\|likely pathogenic	1	21573778	21573778	Human	3	name , alternate_id
127263641	CV1058588	single nucleotide variant	NM_000478.6(ALPL):c.997G>T (p.Gly333Ter)	Adult hypophosphatasia [RCV003463021]\|not provided [RCV001388004]	pathogenic\|likely pathogenic	1	21573799	21573799	Human	1	name
150425002	CV1182849	deletion	NM_000478.6(ALPL):c.1190-260_1190-240del	not provided [RCV001557417]	likely benign	1	21576261	21576281	Human		name
150471704	CV1209601	duplication	NM_000478.6(ALPL):c.1190-235_1190-228dup	not provided [RCV001588712]	likely benign	1	21576279	21576280	Human		name
150455784	CV1214349	single nucleotide variant	NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	Adult hypophosphatasia [RCV003470872]\|Adult hypophosphatasia [RCV005014602]\|Hypophosphatasia [RCV003333168]\|not provided [RCV001596919]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21568112	21568112	Human	2	name
150516773	CV1227232	microsatellite	NM_000478.6(ALPL):c.1190-267_1190-265del	not provided [RCV001639332]	benign	1	21576251	21576253	Human		name
150440989	CV1265489	deletion	NM_000478.6(ALPL):c.1190-251_1190-244del	not provided [RCV001679192]	benign	1	21576264	21576271	Human		name
150485072	CV1273938	microsatellite	NM_000478.6(ALPL):c.1190-235_1190-220del	not provided [RCV001698636]	benign	1	21576256	21576271	Human		name
150436730	CV1286417	deletion	NM_000478.6(ALPL):c.1190-251_1190-248del	not provided [RCV001724493]	benign	1	21576268	21576271	Human		name
150528368	CV1288273	single nucleotide variant	NM_000478.6(ALPL):c.863G>A (p.Gly288Asp)	Inborn genetic diseases [RCV004988711]\|not provided [RCV001726741]	uncertain significance	1	21573665	21573665	Human	1	name
150553224	CV1298261	single nucleotide variant	NM_000478.6(ALPL):c.962G>A (p.Arg321Gln)	Inborn genetic diseases [RCV002540257]\|not provided [RCV001768875]	uncertain significance	1	21573764	21573764	Human	1	name
150528143	CV1301674	single nucleotide variant	NM_000478.6(ALPL):c.650T>C (p.Val217Ala)	Adult hypophosphatasia [RCV005014639]\|not provided [RCV001755046]\|not specified [RCV003317523]	uncertain significance	1	21568105	21568105	Human	1	name
150553339	CV1303323	single nucleotide variant	NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)	Adult hypophosphatasia [RCV002488589]\|not provided [RCV001769013]\|not specified [RCV003987903]	conflicting interpretations of pathogenicity\|uncertain significance	1	21568201	21568201	Human	1	name
150554631	CV1304347	single nucleotide variant	NM_000478.6(ALPL):c.515C>T (p.Ala172Val)	not provided [RCV001771317]	uncertain significance	1	21564083	21564083	Human		name
150544479	CV1313369	deletion	NM_000478.6(ALPL):c.71_74del (p.Lys24fs)	not provided [RCV001783447]	pathogenic	1	21560632	21560635	Human		name
150548137	CV1314163	single nucleotide variant	NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)	Adult hypophosphatasia [RCV003464139]\|Adult hypophosphatasia [RCV005014660]\|Hypophosphatasia [RCV003317526]\|not provided [RCV001785916]	pathogenic\|likely pathogenic	1	21573676	21573676	Human	2	name
151232945	CV1317672	single nucleotide variant	NM_000478.6(ALPL):c.542C>G (p.Ser181Trp)	not provided [RCV001787438]	likely pathogenic	1	21564110	21564110	Human		name
151351706	CV1325018	single nucleotide variant	NM_000478.6(ALPL):c.547G>A (p.Asp183Asn)	Adult hypophosphatasia [RCV001810539]\|not provided [RCV003772268]	likely pathogenic\|uncertain significance	1	21564115	21564115	Human	1	name
151352686	CV1325716	single nucleotide variant	NM_000478.6(ALPL):c.361G>A (p.Val121Met)	Hypophosphatasia [RCV001815062]\|not provided [RCV005095236]	pathogenic\|likely pathogenic	1	21563173	21563173	Human	1	name
151352687	CV1325717	single nucleotide variant	NM_000478.6(ALPL):c.601T>C (p.Cys201Arg)	Hypophosphatasia [RCV001815063]	likely pathogenic	1	21564169	21564169	Human	1	name
151352689	CV1325719	single nucleotide variant	NM_000478.6(ALPL):c.625A>T (p.Met209Leu)	Hypophosphatasia [RCV001815065]	uncertain significance	1	21564193	21564193	Human	1	name
151352690	CV1325720	single nucleotide variant	NM_000478.6(ALPL):c.538C>A (p.His180Asn)	Hypophosphatasia [RCV001815066]\|not specified [RCV004782795]	uncertain significance	1	21564106	21564106	Human	1	name
151763412	CV1339224	single nucleotide variant	NM_000478.6(ALPL):c.352C>A (p.Leu118Met)	Adult hypophosphatasia [RCV003475266]\|not provided [RCV002008130]	likely pathogenic	1	21563164	21563164	Human	1	name
151776411	CV1342594	single nucleotide variant	NM_000478.6(ALPL):c.833T>C (p.Leu278Pro)	not provided [RCV001988726]	uncertain significance	1	21570345	21570345	Human		name
151721957	CV1347958	single nucleotide variant	NM_000478.6(ALPL):c.346G>T (p.Ala116Ser)	not provided [RCV001966113]	likely pathogenic	1	21563158	21563158	Human		name
151811892	CV1349452	single nucleotide variant	NM_000478.6(ALPL):c.551G>A (p.Arg184Gln)	Adult hypophosphatasia [RCV002507646]\|not provided [RCV001974856]	pathogenic	1	21564119	21564119	Human	1	name
151793424	CV1353699	single nucleotide variant	NM_000478.6(ALPL):c.422C>T (p.Thr141Ile)	not provided [RCV001990288]\|not specified [RCV005238122]	likely pathogenic\|uncertain significance	1	21563234	21563234	Human		name
151795901	CV1355884	single nucleotide variant	NM_000478.6(ALPL):c.536C>T (p.Ala179Val)	not provided [RCV002027642]	likely pathogenic	1	21564104	21564104	Human		name
151805441	CV1359333	single nucleotide variant	NM_000478.6(ALPL):c.395C>G (p.Ala132Gly)	not provided [RCV002028482]	likely pathogenic	1	21563207	21563207	Human		name
151780758	CV1363844	single nucleotide variant	NM_000478.6(ALPL):c.952C>A (p.Gln318Lys)	Inborn genetic diseases [RCV004988809]\|not provided [RCV001864942]	likely benign\|uncertain significance	1	21573754	21573754	Human	1	name
151755487	CV1365533	single nucleotide variant	NM_000478.6(ALPL):c.906C>A (p.Asn302Lys)	Hypophosphatasia [RCV003447604]\|not provided [RCV001872680]	uncertain significance	1	21573708	21573708	Human	1	name
151863333	CV1374385	single nucleotide variant	NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)	Adult hypophosphatasia [RCV003464207]\|Adult hypophosphatasia [RCV005016747]\|Infantile hypophosphatasia [RCV004765360]\|not provided [RCV001884220]	pathogenic\|likely pathogenic	1	21563271	21563271	Human	2	name
151787126	CV1393508	single nucleotide variant	NM_000478.6(ALPL):c.815G>T (p.Arg272Leu)	Adult hypophosphatasia [RCV003471180]\|Adult hypophosphatasia [RCV005008303]\|not provided [RCV001972664]	pathogenic\|likely pathogenic	1	21570327	21570327	Human	1	name
151787141	CV1393513	single nucleotide variant	NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)	Adult hypophosphatasia [RCV003475237]\|Osteogenesis imperfecta [RCV002276955]\|not provided [RCV001972665]	pathogenic\|likely pathogenic	1	21573782	21573782	Human	2	name
151794621	CV1395055	single nucleotide variant	NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)	Adult hypophosphatasia [RCV002479619]\|Adult hypophosphatasia [RCV003464338]\|Osteogenesis imperfecta [RCV002276963]\|not provided [RCV001973364]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21563266	21563266	Human	2	name
151725925	CV1395254	single nucleotide variant	NM_000478.6(ALPL):c.967A>G (p.Asn323Asp)	Hypophosphatasia [RCV003448441]\|not provided [RCV001966584]	likely pathogenic	1	21573769	21573769	Human	1	name
151881479	CV1413833	single nucleotide variant	NM_000478.6(ALPL):c.415T>C (p.Cys139Arg)	not provided [RCV002020236]	uncertain significance	1	21563227	21563227	Human		name
151769913	CV1424713	single nucleotide variant	NM_000478.6(ALPL):c.570C>G (p.Asn190Lys)	not provided [RCV001874345]	uncertain significance	1	21564138	21564138	Human		name
151886443	CV1441509	single nucleotide variant	NM_000478.6(ALPL):c.572A>G (p.Glu191Gly)	Hypophosphatasia [RCV004554881]\|not provided [RCV001942167]	pathogenic\|likely pathogenic	1	21564140	21564140	Human	1	name
151870880	CV1477141	single nucleotide variant	NM_000478.6(ALPL):c.884T>C (p.Met295Thr)	Adult hypophosphatasia [RCV003475155]\|Hypophosphatasia [RCV004699541]\|Inborn genetic diseases [RCV002555640]\|not provided [RCV001925196]	pathogenic\|likely pathogenic\|uncertain significance	1	21573686	21573686	Human	3	name
151708986	CV1495285	single nucleotide variant	NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)	Adult hypophosphatasia [RCV003471236]\|Adult hypophosphatasia [RCV005008367]\|Hypophosphatasia [RCV002236196]\|not provided [RCV002001562]	likely pathogenic	1	21563206	21563206	Human	2	name
151765750	CV1495875	single nucleotide variant	NM_000478.6(ALPL):c.534C>A (p.Tyr178Ter)	not provided [RCV001863585]	pathogenic	1	21564102	21564102	Human		name
151809622	CV1497089	single nucleotide variant	NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)	Adult hypophosphatasia [RCV004571659]\|Hypophosphatasia [RCV002271703]\|not provided [RCV001974645]	pathogenic	1	21573698	21573698	Human	2	name
151809880	CV1497122	single nucleotide variant	NM_000478.6(ALPL):c.931G>A (p.Glu311Lys)	Adult hypophosphatasia [RCV003464266]\|Adult hypophosphatasia [RCV005016892]\|Hypophosphatasia [RCV005238090]\|Infantile hypophosphatasia [RCV002243489]\|not provided [RCV001974667]	pathogenic\|likely pathogenic	1	21573733	21573733	Human	3	name
151858335	CV1503564	single nucleotide variant	NM_000478.6(ALPL):c.701T>C (p.Val234Ala)	not provided [RCV001996810]	uncertain significance	1	21568156	21568156	Human		name
152978565	CV1671728	single nucleotide variant	NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys)	Hypophosphatasia [RCV002227833]\|not provided [RCV003679078]	likely pathogenic\|uncertain significance	1	21563114	21563114	Human	1	name
152978628	CV1671819	single nucleotide variant	NM_000478.6(ALPL):c.889T>A (p.Tyr297Asn)	Hypophosphatasia [RCV002227917]	uncertain significance	1	21573691	21573691	Human	1	name
152978630	CV1671844	single nucleotide variant	NM_000478.6(ALPL):c.968A>T (p.Asn323Ile)	Hypophosphatasia [RCV002227918]	uncertain significance	1	21573770	21573770	Human	1	name
152977989	CV1671862	single nucleotide variant	NM_000478.6(ALPL):c.705G>T (p.Glu235Asp)	Hypophosphatasia [RCV002236393]	likely pathogenic	1	21568160	21568160	Human	1	name
152979248	CV1675424	single nucleotide variant	NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr)	Hypophosphatasia [RCV002243537]\|not provided [RCV003718453]	likely pathogenic\|uncertain significance	1	21568170	21568170	Human	1	name
153303396	CV1690353	single nucleotide variant	NM_000478.6(ALPL):c.433A>G (p.Asn145Asp)	Hypophosphatasia [RCV002269254]	uncertain significance	1	21563245	21563245	Human	1	name
153347055	CV1694391	single nucleotide variant	NM_000478.6(ALPL):c.677T>C (p.Met226Thr)	Osteogenesis imperfecta [RCV002277788]\|not provided [RCV003560918]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21568132	21568132	Human	1	name
153347075	CV1694404	single nucleotide variant	NM_000478.6(ALPL):c.910G>A (p.Val304Met)	Osteogenesis imperfecta [RCV002277801]\|not provided [RCV003096232]	uncertain significance	1	21573712	21573712	Human	1	name
155265666	CV1695812	single nucleotide variant	NM_000478.6(ALPL):c.803T>G (p.Phe268Cys)	not provided [RCV002280544]	uncertain significance	1	21570315	21570315	Human		name
155642542	CV1707467	deletion	NM_000478.6(ALPL):c.1439del (p.Val480fs)	Infantile hypophosphatasia [RCV002288397]	likely pathogenic	1	21577512	21577512	Human	1	name
155688418	CV1775028	single nucleotide variant	NM_000478.6(ALPL):c.370A>G (p.Asn124Asp)	Infantile hypophosphatasia [RCV004765370]\|not provided [RCV002294767]	likely pathogenic\|uncertain significance	1	21563182	21563182	Human	1	name
155714416	CV1775995	single nucleotide variant	NM_000478.6(ALPL):c.887A>C (p.Gln296Pro)	not provided [RCV002296334]	uncertain significance	1	21573689	21573689	Human		name
155802534	CV1864428	single nucleotide variant	NM_000478.6(ALPL):c.643A>G (p.Ile215Val)	not provided [RCV002475381]	conflicting interpretations of pathogenicity\|uncertain significance	1	21564211	21564211	Human		name
10042217	CV186617	single nucleotide variant	NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	Adult hypophosphatasia [RCV001196302]\|Adult hypophosphatasia [RCV002505222]\|Childhood hypophosphatasia [RCV003462265]\|Hypophosphatasia [RCV002265652]\|Inborn genetic diseases [RCV002516529]\|Infantile hypophosphatasia [RCV000169128]\|not provided [RCV000729215]	pathogenic\|likely pathogenic	1	21564110	21564110	Human	5	name
10042255	CV186618	single nucleotide variant	NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	Adult hypophosphatasia [RCV003468842]\|Hypophosphatasia [RCV001831990]\|Infantile hypophosphatasia [RCV000169383]\|not provided [RCV001208323]	pathogenic\|likely pathogenic	1	21568122	21568122	Human	3	name
10042209	CV186619	single nucleotide variant	NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)	Adult hypophosphatasia [RCV002498840]\|Adult hypophosphatasia [RCV003462263]\|Hypophosphatasia [RCV001264499]\|Infantile hypophosphatasia [RCV000169064]\|not provided [RCV001378582]	pathogenic\|likely pathogenic	1	21568246	21568246	Human	3	name
10042258	CV186620	single nucleotide variant	NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)	Adult hypophosphatasia [RCV003468843]\|Adult hypophosphatasia [RCV005008091]\|Hypophosphatasia [RCV001582665]\|Infantile hypophosphatasia [RCV000169412]\|not provided [RCV002515199]	pathogenic\|likely pathogenic	1	21570321	21570321	Human	3	name
10042215	CV186621	single nucleotide variant	NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)	Infantile hypophosphatasia [RCV000169122]\|not provided [RCV002515193]	pathogenic\|likely pathogenic	1	21573673	21573673	Human	1	name
10042268	CV186622	single nucleotide variant	NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)	Adult hypophosphatasia [RCV003468845]\|Hypophosphatasia [RCV004586588]\|Infantile hypophosphatasia [RCV000169514]\|not provided [RCV001850403]	pathogenic\|likely pathogenic	1	21573693	21573693	Human	3	name
155804246	CV1866684	single nucleotide variant	NM_000478.6(ALPL):c.329G>A (p.Ser110Asn)	Adult hypophosphatasia [RCV002481227]	uncertain significance	1	21563141	21563141	Human	1	name
156404409	CV1886700	single nucleotide variant	NM_000478.6(ALPL):c.943G>T (p.Val315Leu)	not provided [RCV003069711]	uncertain significance	1	21573745	21573745	Human		name
156315780	CV1928363	single nucleotide variant	NM_000478.6(ALPL):c.512A>G (p.His171Arg)	Adult hypophosphatasia [RCV003465995]\|Hypophosphatasia [RCV003324080]\|not provided [RCV002630053]	pathogenic	1	21564080	21564080	Human	2	name
156158419	CV1928365	single nucleotide variant	NM_000478.6(ALPL):c.602G>A (p.Cys201Tyr)	not provided [RCV002664152]	uncertain significance	1	21564170	21564170	Human		name
156310455	CV1928366	single nucleotide variant	NM_000478.6(ALPL):c.662G>T (p.Gly221Val)	not provided [RCV002648132]	likely pathogenic	1	21568117	21568117	Human		name
156310474	CV1928367	single nucleotide variant	NM_000478.6(ALPL):c.871G>T (p.Glu291Ter)	not provided [RCV002648133]	pathogenic	1	21573673	21573673	Human		name
156310491	CV1928368	single nucleotide variant	NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)	Hypophosphatasia [RCV003388160]\|not provided [RCV002648134]	pathogenic\|likely pathogenic	1	21573676	21573676	Human	1	name
156310510	CV1928369	single nucleotide variant	NM_000478.6(ALPL):c.883A>G (p.Met295Val)	not provided [RCV002648135]	likely pathogenic	1	21573685	21573685	Human		name
10052447	CV194837	single nucleotide variant	NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)	Hypophosphatasia [RCV001835709]\|not provided [RCV000178776]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21563210	21563210	Human	1	name
10052448	CV194838	single nucleotide variant	NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)	Adult hypophosphatasia [RCV005008106]\|Hypophosphatasia [RCV001096294]\|Inborn genetic diseases [RCV002515269]\|not provided [RCV000178777]	conflicting interpretations of pathogenicity\|uncertain significance	1	21563248	21563248	Human	6	name
10052448	CV194838	single nucleotide variant	NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)	Adult hypophosphatasia [RCV005008106]\|Hypophosphatasia [RCV001096294]\|Inborn genetic diseases [RCV002515269]\|not provided [RCV000178777]	conflicting interpretations of pathogenicity\|uncertain significance	1	21563248	21563249	Human	6	name
10048849	CV194840	single nucleotide variant	NM_000478.6(ALPL):c.455G>A (p.Arg152His)	Adult hypophosphatasia [RCV001533727]\|Adult hypophosphatasia [RCV002492784]\|Childhood hypophosphatasia [RCV001533726]\|Hypophosphatasia [RCV000207050]\|Infantile hypophosphatasia [RCV001533725]\|Osteogenesis imperfecta [RCV002277412]\|not provided [RCV000224237]\|not specified [RCV000178779]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	21563267	21563267	Human	11	name
10048849	CV194840	single nucleotide variant	NM_000478.6(ALPL):c.455G>A (p.Arg152His)	Adult hypophosphatasia [RCV001533727]\|Adult hypophosphatasia [RCV002492784]\|Childhood hypophosphatasia [RCV001533726]\|Hypophosphatasia [RCV000207050]\|Infantile hypophosphatasia [RCV001533725]\|Osteogenesis imperfecta [RCV002277412]\|not provided [RCV000224237]\|not specified [RCV000178779]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	21563267	21563268	Human	11	name
10049060	CV195584	single nucleotide variant	NM_000478.6(ALPL):c.787T>C (p.Tyr263His)	Adult hypophosphatasia [RCV001533733]\|Childhood hypophosphatasia [RCV001533732]\|Hypophosphatasia [RCV000207155]\|Infantile hypophosphatasia [RCV001533731]\|Osteogenesis imperfecta [RCV002277424]\|not provided [RCV001516773]\|not specified [RCV000179760]	benign	1	21568242	21568242	Human	12	name
10049060	CV195584	single nucleotide variant	NM_000478.6(ALPL):c.787T>C (p.Tyr263His)	Adult hypophosphatasia [RCV001533733]\|Childhood hypophosphatasia [RCV001533732]\|Hypophosphatasia [RCV000207155]\|Infantile hypophosphatasia [RCV001533731]\|Osteogenesis imperfecta [RCV002277424]\|not provided [RCV001516773]\|not specified [RCV000179760]	benign	1	21568242	21568243	Human	12	name
156233112	CV1956105	single nucleotide variant	NM_000478.6(ALPL):c.773G>A (p.Ser258Asn)	not provided [RCV002575952]	uncertain significance	1	21568228	21568228	Human		name
156309594	CV1973071	single nucleotide variant	NM_000478.6(ALPL):c.565G>A (p.Asp189Asn)	not provided [RCV002578616]\|not specified [RCV003230752]	uncertain significance	1	21564133	21564133	Human		name
156138360	CV1973483	single nucleotide variant	NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)	ALPL-related disorder [RCV004548329]\|not provided [RCV002593743]\|not specified [RCV005419473]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21563228	21563228	Human	1	name , alternate_id
156414036	CV1979242	single nucleotide variant	NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	Adult hypophosphatasia [RCV003989774]\|Adult hypophosphatasia [RCV005019280]\|Hypophosphatasia [RCV003447630]\|not provided [RCV002609022]\|not specified [RCV005239465]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21564181	21564181	Human	2	name
156096000	CV1980930	single nucleotide variant	NM_000478.6(ALPL):c.518C>T (p.Thr173Ile)	not provided [RCV002622032]	pathogenic	1	21564086	21564086	Human		name
156290960	CV2047224	single nucleotide variant	NM_000478.6(ALPL):c.549C>G (p.Asp183Glu)	not provided [RCV002770767]	uncertain significance	1	21564117	21564117	Human		name
156079141	CV2053743	single nucleotide variant	NM_000478.6(ALPL):c.517A>G (p.Thr173Ala)	not provided [RCV002823796]	likely pathogenic	1	21564085	21564085	Human		name
156234621	CV2056221	single nucleotide variant	NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)	Adult hypophosphatasia [RCV004571261]\|not provided [RCV002791125]	pathogenic	1	21570367	21570367	Human	1	name
156270393	CV2059806	single nucleotide variant	NM_000478.6(ALPL):c.604A>G (p.Lys202Glu)	not provided [RCV002806640]	uncertain significance	1	21564172	21564172	Human		name
156254650	CV2060593	single nucleotide variant	NM_000478.6(ALPL):c.823C>T (p.Leu275Phe)	Adult hypophosphatasia [RCV005019409]\|not provided [RCV002791812]	likely pathogenic\|uncertain significance	1	21570335	21570335	Human	1	name
155997766	CV2074427	single nucleotide variant	NM_000478.6(ALPL):c.598G>T (p.Gly200Cys)	not provided [RCV002843264]	uncertain significance	1	21564166	21564166	Human		name
156137392	CV2097420	single nucleotide variant	NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)	Adult hypophosphatasia [RCV003464631]\|not provided [RCV002890172]	pathogenic\|likely pathogenic	1	21568136	21568136	Human	1	name
155984244	CV2163325	single nucleotide variant	NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)	not provided [RCV003034022]\|not specified [RCV004587409]	likely pathogenic\|uncertain significance	1	21563248	21563248	Human		name
156265423	CV2189166	single nucleotide variant	NM_000478.6(ALPL):c.969C>A (p.Asn323Lys)	not provided [RCV003044267]	likely pathogenic	1	21573771	21573771	Human		name
156383706	CV2361647	single nucleotide variant	NM_000478.6(ALPL):c.937G>C (p.Val313Leu)	Inborn genetic diseases [RCV002679247]	uncertain significance	1	21573739	21573739	Human	1	name
243063795	CV2405310	single nucleotide variant	NM_000478.6(ALPL):c.386G>A (p.Gly129Glu)	Childhood hypophosphatasia [RCV003142389]	likely pathogenic	1	21563198	21563198	Human	1	name
243053840	CV2418304	single nucleotide variant	NM_000478.6(ALPL):c.822A>T (p.Glu274Asp)	not provided [RCV003154358]	uncertain significance	1	21570334	21570334	Human		name
11640508	CV271140	single nucleotide variant	NM_000478.6(ALPL):c.734C>T (p.Thr245Met)	Adult hypophosphatasia [RCV002487243]\|Hypophosphatasia [RCV001828236]\|not provided [RCV000338911]	uncertain significance	1	21568189	21568189	Human	2	name
11643466	CV271351	single nucleotide variant	NM_000478.6(ALPL):c.673T>C (p.Tyr225His)	Adult hypophosphatasia [RCV002494864]\|Adult hypophosphatasia [RCV002509350]\|not provided [RCV000393235]	conflicting interpretations of pathogenicity\|uncertain significance	1	21568128	21568128	Human	1	name
11639599	CV271747	single nucleotide variant	NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)	Adult hypophosphatasia [RCV003463768]\|Adult hypophosphatasia [RCV005008257]\|Hypophosphatasia [RCV002509351]\|not provided [RCV000322603]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21573722	21573722	Human	2	name
11577598	CV272484	single nucleotide variant	NM_000478.6(ALPL):c.818C>T (p.Thr273Met)	ALPL-related disorder [RCV004549605]\|Hypophosphatasia [RCV000263557]\|Inborn genetic diseases [RCV002519300]\|not provided [RCV000710516]\|not specified [RCV001820834]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21570330	21570330	Human	2	name , alternate_id
401797375	CV2742190	single nucleotide variant	NM_000478.6(ALPL):c.577C>G (p.Pro193Ala)	not specified [RCV003324369]	uncertain significance	1	21564145	21564145	Human		name
11582251	CV278891	single nucleotide variant	NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)	ALPL-related disorder [RCV004739667]\|Adult hypophosphatasia [RCV005016688]\|Hypophosphatasia [RCV000404402]\|Inborn genetic diseases [RCV004021421]\|not provided [RCV000941105]\|not specified [RCV000502406]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21563225	21563225	Human	3	name , alternate_id
401875821	CV2789177	single nucleotide variant	NM_000478.6(ALPL):c.970C>G (p.Pro324Ala)	Inborn genetic diseases [RCV003383177]	uncertain significance	1	21573772	21573772	Human	1	name
401919573	CV2794894	single nucleotide variant	NM_000478.6(ALPL):c.952C>T (p.Gln318Ter)	Hypophosphatasia [RCV005410957]\|Infantile hypophosphatasia [RCV003388642]	pathogenic\|likely pathogenic	1	21573754	21573754	Human	2	name
401925109	CV2805248	deletion	NM_000478.6(ALPL):c.1361del (p.His454fs)	Hypophosphatasia [RCV003405069]	pathogenic	1	21577434	21577434	Human	1	name
401947003	CV2831923	single nucleotide variant	NM_000478.6(ALPL):c.466G>T (p.Asp156Tyr)	Hypophosphatasia [RCV003447431]	uncertain significance	1	21563278	21563278	Human	1	name
401947101	CV2832315	single nucleotide variant	NM_000478.6(ALPL):c.527C>T (p.Ala176Val)	Hypophosphatasia [RCV003447840]	likely pathogenic	1	21564095	21564095	Human	1	name
401948450	CV2832522	single nucleotide variant	NM_000478.6(ALPL):c.659G>T (p.Gly220Val)	Hypophosphatasia [RCV003448502]\|not provided [RCV003553942]	pathogenic\|likely pathogenic	1	21568114	21568114	Human	1	name
401948642	CV2832574	duplication	NM_000478.6(ALPL):c.1444dup (p.His482fs)	Hypophosphatasia [RCV003448554]	likely pathogenic	1	21577512	21577513	Human	1	name
401948461	CV2832576	single nucleotide variant	NM_000478.6(ALPL):c.511C>G (p.His171Asp)	Hypophosphatasia [RCV003448556]	likely pathogenic	1	21564079	21564079	Human	1	name
401940220	CV2832728	single nucleotide variant	NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)	Adult hypophosphatasia [RCV003459864]\|Hypophosphatasia [RCV003448655]\|not provided [RCV003553944]	pathogenic\|likely pathogenic	1	21568162	21568162	Human	2	name
401946023	CV2832737	single nucleotide variant	NM_000478.6(ALPL):c.385G>A (p.Gly129Arg)	Adult hypophosphatasia [RCV003470050]\|not specified [RCV004801350]	likely pathogenic\|uncertain significance	1	21563197	21563197	Human	1	name
401946025	CV2832779	single nucleotide variant	NM_000478.6(ALPL):c.358G>A (p.Gly120Arg)	Adult hypophosphatasia [RCV003470075]	likely pathogenic	1	21563170	21563170	Human	1	name
401941528	CV2832795	single nucleotide variant	NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)	Adult hypophosphatasia [RCV003461845]\|not provided [RCV003689092]	pathogenic\|likely pathogenic	1	21564102	21564102	Human	1	name
401946075	CV2832814	single nucleotide variant	NM_000478.6(ALPL):c.413G>C (p.Arg138Pro)	Adult hypophosphatasia [RCV003470102]	likely pathogenic	1	21563225	21563225	Human	1	name
401941540	CV2832883	single nucleotide variant	NM_000478.6(ALPL):c.382G>A (p.Val128Met)	Adult hypophosphatasia [RCV003461857]\|not provided [RCV003553957]	pathogenic	1	21563194	21563194	Human	1	name
401946125	CV2832894	deletion	NM_000478.6(ALPL):c.1372del (p.Asp458fs)	Adult hypophosphatasia [RCV003470127]	likely pathogenic	1	21577444	21577444	Human	1	name
401946165	CV2832923	single nucleotide variant	NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)	Adult hypophosphatasia [RCV003470148]	likely pathogenic	1	21563163	21563163	Human	1	name
401948632	CV2839338	single nucleotide variant	NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)	Hypophosphatasia [RCV003448894]	pathogenic	1	21568223	21568223	Human	1	name
401948635	CV2839341	single nucleotide variant	NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)	Hypophosphatasia [RCV003448897]	likely pathogenic	1	21570314	21570314	Human	1	name
401942123	CV2839824	single nucleotide variant	NM_000478.6(ALPL):c.539A>G (p.His180Arg)	Hypophosphatasia [RCV003456332]	uncertain significance	1	21564107	21564107	Human	1	name
401964367	CV2843661	single nucleotide variant	NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)	Hypophosphatasia [RCV003480004]	pathogenic	1	21564129	21564129	Human	1	name
405206333	CV2873922	single nucleotide variant	NM_000478.6(ALPL):c.792G>T (p.Lys264Asn)	not provided [RCV003551990]	uncertain significance	1	21568247	21568247	Human		name
405158337	CV2898173	single nucleotide variant	NM_000478.6(ALPL):c.443C>T (p.Thr148Ile)	not provided [RCV003562214]	pathogenic\|likely pathogenic	1	21563255	21563255	Human		name
405158369	CV2898177	single nucleotide variant	NM_000478.6(ALPL):c.919C>T (p.Pro307Ser)	not provided [RCV003562216]	likely pathogenic	1	21573721	21573721	Human		name
402465506	CV2916745	deletion	NM_000478.6(ALPL):c.1435del (p.Tyr479fs)	not provided [RCV003569246]	pathogenic	1	21577508	21577508	Human		name
405223564	CV2919127	single nucleotide variant	NM_000478.6(ALPL):c.699T>A (p.Asp233Glu)	not provided [RCV003568794]	uncertain significance	1	21568154	21568154	Human		name
402502250	CV2932525	duplication	NM_000478.6(ALPL):c.1257dup (p.Gly420fs)	not provided [RCV003574117]	pathogenic	1	21576588	21576589	Human		name
405071803	CV2941087	single nucleotide variant	NM_000478.6(ALPL):c.529G>T (p.Ala177Ser)	not provided [RCV003664025]	likely pathogenic	1	21564097	21564097	Human		name
405168751	CV2951071	single nucleotide variant	NM_000478.6(ALPL):c.818C>G (p.Thr273Arg)	not provided [RCV003675246]	uncertain significance	1	21570330	21570330	Human		name
405119898	CV2952213	single nucleotide variant	NM_000478.6(ALPL):c.881A>G (p.Asp294Gly)	not provided [RCV003671356]	likely pathogenic	1	21573683	21573683	Human		name
405122818	CV2954169	single nucleotide variant	NM_000478.6(ALPL):c.305A>T (p.Asn102Ile)	not provided [RCV003667604]	likely pathogenic	1	21563117	21563117	Human		name
405125573	CV2958250	single nucleotide variant	NM_000478.6(ALPL):c.647A>G (p.Asp216Gly)	not provided [RCV003667820]	uncertain significance	1	21564215	21564215	Human		name
405116797	CV2961704	single nucleotide variant	NM_000478.6(ALPL):c.903G>T (p.Arg301Ser)	not provided [RCV003671035]	uncertain significance	1	21573705	21573705	Human		name
405129425	CV2962234	single nucleotide variant	NM_000478.6(ALPL):c.984C>G (p.Phe328Leu)	not provided [RCV003668246]\|not specified [RCV005407207]	uncertain significance	1	21573786	21573786	Human		name
405234924	CV2972487	single nucleotide variant	NM_000478.6(ALPL):c.356G>C (p.Cys119Ser)	not provided [RCV003682878]	uncertain significance	1	21563168	21563168	Human		name
405234240	CV2975705	single nucleotide variant	NM_000478.6(ALPL):c.520C>T (p.Pro174Ser)	not provided [RCV003682772]	likely pathogenic	1	21564088	21564088	Human		name
405214951	CV2981540	single nucleotide variant	NM_000478.6(ALPL):c.388G>A (p.Val130Ile)	not provided [RCV003709191]	uncertain significance	1	21563200	21563200	Human		name
404984524	CV2983100	single nucleotide variant	NM_000478.6(ALPL):c.969C>G (p.Asn323Lys)	not provided [RCV003691668]	likely pathogenic	1	21573771	21573771	Human		name
405010149	CV2987198	single nucleotide variant	NM_000478.6(ALPL):c.550C>G (p.Arg184Gly)	not provided [RCV003693912]	likely pathogenic	1	21564118	21564118	Human		name
402497725	CV2988923	single nucleotide variant	NM_000478.6(ALPL):c.894G>T (p.Glu298Asp)	not provided [RCV003714423]	likely pathogenic	1	21573696	21573696	Human		name
405205035	CV2997555	single nucleotide variant	NM_000478.6(ALPL):c.784A>T (p.Arg262Ter)	not provided [RCV003678622]	pathogenic	1	21568239	21568239	Human		name
402520969	CV3000248	single nucleotide variant	NM_000478.6(ALPL):c.981C>G (p.Phe327Leu)	Hypophosphatasia [RCV005254859]\|not provided [RCV003716343]	pathogenic\|likely pathogenic	1	21573783	21573783	Human	1	name
402522021	CV3005127	single nucleotide variant	NM_000478.6(ALPL):c.571G>C (p.Glu191Gln)	not provided [RCV003690371]	likely pathogenic	1	21564139	21564139	Human		name
405075592	CV3007871	single nucleotide variant	NM_000478.6(ALPL):c.711G>C (p.Glu237Asp)	not provided [RCV003716738]	uncertain significance	1	21568166	21568166	Human		name
405049038	CV3025401	single nucleotide variant	NM_000478.6(ALPL):c.716A>G (p.Asp239Gly)	not provided [RCV003696873]	likely pathogenic\|uncertain significance	1	21568171	21568171	Human		name
402483558	CV3036695	single nucleotide variant	NM_000478.6(ALPL):c.380C>A (p.Thr127Asn)	Adult hypophosphatasia [RCV005013121]\|not provided [RCV003713087]	uncertain significance	1	21563192	21563192	Human	1	name
405208319	CV3037167	single nucleotide variant	NM_000478.6(ALPL):c.891C>G (p.Tyr297Ter)	not provided [RCV003708300]	pathogenic	1	21573693	21573693	Human		name
405141196	CV3045948	single nucleotide variant	NM_000478.6(ALPL):c.850G>A (p.Asp284Asn)	not provided [RCV003725602]	uncertain significance	1	21570362	21570362	Human		name
405245477	CV3051532	single nucleotide variant	NM_000478.6(ALPL):c.880G>A (p.Asp294Asn)	ALPL-related disorder [RCV004738853]\|not provided [RCV003720312]	pathogenic\|likely pathogenic\|uncertain significance	1	21573682	21573682	Human	1	name , alternate_id
405240250	CV3060649	single nucleotide variant	NM_000478.6(ALPL):c.344C>T (p.Thr115Ile)	not provided [RCV003737088]\|not specified [RCV004527005]	pathogenic\|likely pathogenic\|uncertain significance	1	21563156	21563156	Human		name
405042269	CV3154087	single nucleotide variant	NM_000478.6(ALPL):c.757G>C (p.Val253Leu)	not provided [RCV003848955]	uncertain significance	1	21568212	21568212	Human		name
405190792	CV3157029	single nucleotide variant	NM_000478.6(ALPL):c.379A>G (p.Thr127Ala)	Hypophosphatasia [RCV004765385]\|not provided [RCV003859717]	likely pathogenic\|uncertain significance	1	21563191	21563191	Human	1	name
405185867	CV3160180	single nucleotide variant	NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)	not provided [RCV003859235]\|not specified [RCV004767494]	likely pathogenic\|uncertain significance	1	21568126	21568126	Human		name
404991972	CV3184362	single nucleotide variant	NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)	Hypophosphatasia [RCV003881692]	likely pathogenic	1	21573673	21573673	Human	1	name
405280796	CV3195714	single nucleotide variant	NM_000478.6(ALPL):c.717C>A (p.Asp239Glu)	ALPL-related disorder [RCV004550862]\|not provided [RCV004790636]	uncertain significance	1	21568172	21568172	Human	1	name , alternate_id
405854578	CV3394243	single nucleotide variant	NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys)	Hypophosphatasia [RCV004547439]	likely pathogenic	1	21564128	21564128	Human	1	name
405854882	CV3394998	single nucleotide variant	NM_000478.6(ALPL):c.319G>A (p.Val107Ile)	Hypophosphatasia [RCV004555139]	likely pathogenic	1	21563131	21563131	Human	1	name
405869300	CV3400837	single nucleotide variant	NM_000478.6(ALPL):c.583G>T (p.Glu195Ter)	Adult hypophosphatasia [RCV004576841]	likely pathogenic	1	21564151	21564151	Human	1	name
405869304	CV3400841	deletion	NM_000478.6(ALPL):c.1254del (p.Pro419fs)	Adult hypophosphatasia [RCV004576845]	likely pathogenic	1	21576584	21576584	Human	1	name
407427162	CV3410499	single nucleotide variant	NM_000478.6(ALPL):c.439G>A (p.Val147Ile)	not provided [RCV005101988]\|not specified [RCV004586146]	uncertain significance	1	21563251	21563251	Human		name
407427695	CV3410839	single nucleotide variant	NM_000478.6(ALPL):c.955A>T (p.Ile319Phe)	Hypophosphatasia [RCV004586483]	uncertain significance	1	21573757	21573757	Human	1	name
407425014	CV3411039	single nucleotide variant	NM_000478.6(ALPL):c.393C>A (p.Ser131Arg)	not provided [RCV004588729]	uncertain significance	1	21563205	21563205	Human		name
408390548	CV3527608	single nucleotide variant	NM_000478.6(ALPL):c.617A>C (p.Tyr206Ser)	not provided [RCV004774875]	uncertain significance	1	21564185	21564185	Human		name
596928401	CV3540386	single nucleotide variant	NM_000478.6(ALPL):c.804C>G (p.Phe268Leu)	Hypophosphatasia [RCV004794714]	likely pathogenic	1	21570316	21570316	Human	1	name
596942326	CV3544086	single nucleotide variant	NM_000478.6(ALPL):c.703G>C (p.Glu235Gln)	not specified [RCV004800076]	uncertain significance	1	21568158	21568158	Human		name
12740093	CV357053	deletion	NM_000478.6(ALPL):c.46_49del (p.Asn16fs)	Hypophosphatasia [RCV001255507]\|Infantile hypophosphatasia [RCV000411162]\|not provided [RCV003556373]	pathogenic\|likely pathogenic	1	21554124	21554127	Human	2	name
12833433	CV364629	single nucleotide variant	NM_000478.6(ALPL):c.782C>T (p.Pro261Leu)	Adult hypophosphatasia [RCV002480316]\|Hypophosphatasia [RCV001828429]\|not provided [RCV000418497]	uncertain significance	1	21568237	21568237	Human	2	name
12849355	CV364747	single nucleotide variant	NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	Adult hypophosphatasia [RCV002480299]\|Adult hypophosphatasia [RCV003470381]\|Hypophosphatasia [RCV001833531]\|Infantile hypophosphatasia [RCV000984145]\|not provided [RCV000428517]	pathogenic\|likely pathogenic	1	21568123	21568123	Human	3	name
12848339	CV364862	single nucleotide variant	NM_000478.6(ALPL):c.586G>A (p.Ala196Thr)	Hypophosphatasia [RCV001828428]\|not provided [RCV000445114]	uncertain significance	1	21564154	21564154	Human	1	name
597627515	CV3711581	single nucleotide variant	NM_000478.6(ALPL):c.587C>G (p.Ala196Gly)	Adult hypophosphatasia [RCV005022230]	uncertain significance	1	21564155	21564155	Human	1	name
12912014	CV417653	single nucleotide variant	NM_000478.6(ALPL):c.530C>T (p.Ala177Val)	Adult hypophosphatasia [RCV003470595]\|Adult hypophosphatasia [RCV005010406]\|Decreased circulating alkaline phosphatase activity [RCV000490737]\|not provided [RCV001851327]\|not specified [RCV003387860]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21564098	21564098	Human	3	name
13216399	CV427701	single nucleotide variant	NM_000478.6(ALPL):c.449T>A (p.Ile150Asn)	not specified [RCV000503579]	uncertain significance	1	21563261	21563261	Human		name
13213609	CV427702	single nucleotide variant	NM_000478.6(ALPL):c.757G>A (p.Val253Ile)	not provided [RCV002461252]\|not specified [RCV000500224]	uncertain significance	1	21568212	21568212	Human		name
13483515	CV442712	single nucleotide variant	NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)	Adult hypophosphatasia [RCV003470650]\|Hypophosphatasia [RCV000709831]\|not provided [RCV000522077]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	1	21563152	21563152	Human	2	name
13518042	CV486846	single nucleotide variant	NM_000478.6(ALPL):c.815G>A (p.Arg272His)	Adult hypophosphatasia [RCV003459459]\|Adult hypophosphatasia [RCV005010562]\|Hypophosphatasia [RCV000587658]\|Infantile hypophosphatasia [RCV000674432]\|Osteogenesis imperfecta [RCV002279370]\|not provided [RCV001597180]	pathogenic\|likely pathogenic	1	21570327	21570327	Human	4	name
13520992	CV486895	single nucleotide variant	NM_000478.6(ALPL):c.499A>G (p.Thr167Ala)	not provided [RCV000588622]	uncertain significance	1	21564067	21564067	Human		name
13521331	CV495070	duplication	NM_000478.6(ALPL):c.1171dup (p.Arg391fs)	Adult hypophosphatasia [RCV003459476]\|Adult hypophosphatasia [RCV005019029]\|Hypophosphatasia [RCV005407789]\|Infantile hypophosphatasia [RCV000984144]\|not provided [RCV000599365]	pathogenic\|likely pathogenic	1	21575900	21575901	Human	3	name
13531891	CV511220	single nucleotide variant	NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	Adult hypophosphatasia [RCV003465357]\|Hypophosphatasia [RCV001730702]\|Inborn genetic diseases [RCV000623730]\|Infantile hypophosphatasia [RCV000674297]\|Odontohypophosphatasia [RCV005251002]\|Osteogenesis imperfecta [RCV002279446]\|not provided [RCV001046115]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21564118	21564118	Human	6	name
13785785	CV540745	single nucleotide variant	NM_000478.6(ALPL):c.497C>T (p.Thr166Ile)	Infantile hypophosphatasia [RCV000674250]	uncertain significance	1	21564065	21564065	Human	1	name
13785576	CV540788	single nucleotide variant	NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)	Adult hypophosphatasia [RCV003465465]\|Hypophosphatasia [RCV005407861]\|Infantile hypophosphatasia [RCV000667160]\|not provided [RCV001855475]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21563234	21563234	Human	3	name
13785630	CV540807	single nucleotide variant	NM_000478.6(ALPL):c.318G>C (p.Gln106His)	Adult hypophosphatasia [RCV004568525]\|Adult hypophosphatasia [RCV005010659]\|Hypophosphatasia [RCV001730705]\|Infantile hypophosphatasia [RCV000669326]\|not provided [RCV001300265]	pathogenic\|likely pathogenic\|uncertain significance	1	21563130	21563130	Human	3	name
13785696	CV540808	single nucleotide variant	NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)	Adult hypophosphatasia [RCV003465505]\|Adult hypophosphatasia [RCV005010665]\|Infantile hypophosphatasia [RCV000671010]\|not provided [RCV001861800]\|not specified [RCV002265848]	pathogenic\|likely pathogenic\|uncertain significance	1	21563180	21563180	Human	2	name
13785561	CV540810	single nucleotide variant	NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)	Infantile hypophosphatasia [RCV000666790]\|not provided [RCV003558489]	likely pathogenic\|uncertain significance	1	21563219	21563219	Human	1	name
13785504	CV540822	single nucleotide variant	NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)	Adult hypophosphatasia [RCV003459565]\|Adult hypophosphatasia [RCV005010646]\|Hypophosphatasia [RCV005407855]\|Infantile hypophosphatasia [RCV000664567]\|not provided [RCV001377620]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21563146	21563146	Human	3	name
13785747	CV540833	single nucleotide variant	NM_000478.6(ALPL):c.629A>G (p.His210Arg)	Infantile hypophosphatasia [RCV000672920]\|not provided [RCV001597199]	likely pathogenic\|uncertain significance	1	21564197	21564197	Human	1	name
13785511	CV540839	single nucleotide variant	NM_000478.6(ALPL):c.670A>G (p.Lys224Glu)	Hypophosphatasia [RCV005240419]\|Infantile hypophosphatasia [RCV000664774]\|not provided [RCV002532036]	pathogenic\|likely pathogenic\|uncertain significance	1	21568125	21568125	Human	2	name
13785761	CV540880	single nucleotide variant	NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	Adult hypophosphatasia [RCV002249400]\|Adult hypophosphatasia [RCV005019152]\|Hypophosphatasia [RCV000778223]\|Inborn genetic diseases [RCV002531329]\|Infantile hypophosphatasia [RCV000673035]\|Microcephaly [RCV001252803]\|not provided [RCV000806323]\|not specified [RCV002271560]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21564097	21564097	Human	6	name
13785608	CV540881	single nucleotide variant	NM_000478.6(ALPL):c.880G>T (p.Asp294Tyr)	Infantile hypophosphatasia [RCV000668470]	uncertain significance	1	21573682	21573682	Human	1	name
13785675	CV540890	duplication	NM_000478.6(ALPL):c.1017dup (p.His340fs)	Adult hypophosphatasia [RCV002499170]\|Adult hypophosphatasia [RCV003465497]\|Hypophosphatasia [RCV001275109]\|Infantile hypophosphatasia [RCV000670296]\|not provided [RCV001044816]	pathogenic\|likely pathogenic	1	21575749	21575750	Human	3	name
13785661	CV540943	single nucleotide variant	NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)	Adult hypophosphatasia [RCV003225733]\|Infantile hypophosphatasia [RCV000670035]\|not provided [RCV001236036]	pathogenic\|likely pathogenic\|uncertain significance	1	21568113	21568113	Human	2	name
13785818	CV540945	single nucleotide variant	NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)	Adult hypophosphatasia [RCV004568571]\|Hypophosphatasia [RCV003226368]\|Infantile hypophosphatasia [RCV000674883]\|not provided [RCV001093407]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21568116	21568116	Human	3	name
13831636	CV582133	single nucleotide variant	NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)	Adult hypophosphatasia [RCV003465651]\|Adult hypophosphatasia [RCV005021121]\|not provided [RCV000722315]	pathogenic\|likely pathogenic\|uncertain significance	1	21573796	21573796	Human	1	name
13832212	CV582704	single nucleotide variant	NM_000478.6(ALPL):c.810G>A (p.Trp270Ter)	not provided [RCV000722896]	uncertain significance	1	21570322	21570322	Human		name
13832313	CV582807	single nucleotide variant	NM_000478.6(ALPL):c.610A>G (p.Ile204Val)	Adult hypophosphatasia [RCV002507279]\|Inborn genetic diseases [RCV002535040]\|not provided [RCV000723000]	uncertain significance	1	21564178	21564178	Human	2	name
13834764	CV586013	single nucleotide variant	NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	Adult hypophosphatasia [RCV002493325]\|Adult hypophosphatasia [RCV003465663]\|Hypophosphatasia [RCV001825460]\|not provided [RCV000730364]	pathogenic\|likely pathogenic	1	21563207	21563207	Human	2	name
14689557	CV621068	deletion	NM_000478.6(ALPL):c.1171del (p.Arg391fs)	Adult hypophosphatasia [RCV001253674]\|Adult hypophosphatasia [RCV001536120]\|Hypophosphatasia [RCV000779691]\|not provided [RCV001232736]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21575901	21575901	Human	2	name
14689559	CV621069	duplication	NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	Adult hypophosphatasia [RCV001198564]\|Childhood hypophosphatasia [RCV001281691]\|Hypophosphatasia [RCV000779692]\|not provided [RCV001055790]	pathogenic\|likely pathogenic	1	21575916	21575917	Human	3	name
14689561	CV621070	deletion	NM_000478.6(ALPL):c.1474del (p.Ala492fs)	ALPL-related disorder [RCV004549858]\|Adult hypophosphatasia [RCV003467308]\|Hypophosphatasia [RCV000779693]\|not provided [RCV001379959]	pathogenic\|likely pathogenic	1	21577544	21577544	Human	2	name , alternate_id
14698223	CV623243	single nucleotide variant	NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)	Infantile hypophosphatasia [RCV000786924]\|not provided [RCV005056547]	likely pathogenic\|uncertain significance	1	21564166	21564166	Human	1	name
14734106	CV627356	single nucleotide variant	NM_000478.6(ALPL):c.923C>G (p.Ser308Ter)	not provided [RCV000818976]	pathogenic	1	21573725	21573725	Human		name
21071301	CV794565	single nucleotide variant	NM_000478.6(ALPL):c.515C>A (p.Ala172Asp)	not provided [RCV000993934]	uncertain significance	1	21564083	21564083	Human		name
21406384	CV799154	single nucleotide variant	NM_000478.6(ALPL):c.299C>T (p.Thr100Met)	ALPL-related disorder [RCV004553548]\|Adult hypophosphatasia [RCV003229004]\|Adult hypophosphatasia [RCV005021310]\|Hypophosphatasia [RCV004782623]\|not provided [RCV001382223]\|not specified [RCV001002604]	pathogenic\|likely pathogenic	1	21563111	21563111	Human	2	name , alternate_id
25314795	CV818168	single nucleotide variant	NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)	Adult hypophosphatasia [RCV001029819]\|Hypophosphatasia [RCV003447575]\|not provided [RCV001248534]	pathogenic\|likely pathogenic	1	21563143	21563143	Human	5	name
25314795	CV818168	single nucleotide variant	NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)	Adult hypophosphatasia [RCV001029819]\|Hypophosphatasia [RCV003447575]\|not provided [RCV001248534]	pathogenic\|likely pathogenic	1	21563143	21563144	Human	5	name
26888694	CV823327	single nucleotide variant	NM_000478.6(ALPL):c.431G>A (p.Gly144Glu)	Adult hypophosphatasia [RCV002497417]\|not provided [RCV001054292]	uncertain significance	1	21563243	21563243	Human	1	name
28908769	CV858904	single nucleotide variant	NM_000478.6(ALPL):c.827T>C (p.Leu276Pro)	not provided [RCV001093408]	uncertain significance	1	21570339	21570339	Human		name
28879674	CV863518	single nucleotide variant	NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)	Adult hypophosphatasia [RCV002497500]\|Adult hypophosphatasia [RCV003469293]\|Hypophosphatasia [RCV001096293]\|not provided [RCV002554893]	pathogenic\|uncertain significance	1	21563162	21563162	Human	2	name
28890458	CV863521	single nucleotide variant	NM_000478.6(ALPL):c.961C>T (p.Arg321Trp)	Adult hypophosphatasia [RCV005021442]\|Hypophosphatasia [RCV001099814]\|not provided [RCV001243649]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	21573763	21573763	Human	2	name
38461938	CV918600	single nucleotide variant	NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)	Adult hypophosphatasia [RCV001198044]	pathogenic	1	21564139	21564139	Human	1	name
38471784	CV930287	single nucleotide variant	NM_000478.6(ALPL):c.824T>C (p.Leu275Pro)	Adult hypophosphatasia [RCV004570471]\|not provided [RCV001213860]	pathogenic\|likely pathogenic	1	21570336	21570336	Human	1	name
38490419	CV941693	single nucleotide variant	NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)	Adult hypophosphatasia [RCV001253680]\|Childhood hypophosphatasia [RCV002290655]\|Hypophosphatasia [RCV003235509]\|Infantile hypophosphatasia [RCV001257429]\|not provided [RCV001238820]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21563218	21563218	Human	4	name
38477640	CV941709	single nucleotide variant	NM_000478.6(ALPL):c.949A>T (p.Ile317Phe)	not provided [RCV001233568]	uncertain significance	1	21573751	21573751	Human		name
38497238	CV952240	single nucleotide variant	NM_000478.6(ALPL):c.575T>C (p.Met192Thr)	ALPL-related disorder [RCV004740628]\|Adult hypophosphatasia [RCV003469463]\|Adult hypophosphatasia [RCV005014299]\|Hypophosphatasia [RCV004800747]\|Infantile hypophosphatasia [RCV001257096]\|not provided [RCV001243051]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21564143	21564143	Human	3	name , alternate_id
38496765	CV952253	single nucleotide variant	NM_000478.6(ALPL):c.914C>T (p.Thr305Met)	Adult hypophosphatasia [RCV002499406]\|Hypophosphatasia [RCV001835139]\|not provided [RCV001242767]	uncertain significance	1	21573716	21573716	Human	2	name
38598491	CV964145	single nucleotide variant	NM_000478.6(ALPL):c.341C>T (p.Ala114Val)	Adult hypophosphatasia [RCV001253667]\|not provided [RCV005057166]	likely pathogenic\|uncertain significance	1	21563153	21563153	Human	1	name
38597700	CV964146	single nucleotide variant	NM_000478.6(ALPL):c.500C>A (p.Thr167Lys)	Adult hypophosphatasia [RCV001253015]\|not provided [RCV005094212]	likely pathogenic	1	21564068	21564068	Human	1	name
38597711	CV964147	single nucleotide variant	NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	ALPL-related disorder [RCV004548107]\|Adult hypophosphatasia [RCV001253034]\|Adult hypophosphatasia [RCV005014309]\|Hypophosphatasia [RCV004782688]\|not provided [RCV001879863]	pathogenic\|likely pathogenic	1	21564068	21564068	Human	2	name , alternate_id
40886780	CV972538	single nucleotide variant	NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)	Adult hypophosphatasia [RCV005014317]\|Hypophosphatasia [RCV001264483]\|not provided [RCV003320818]	pathogenic\|likely pathogenic	1	21568193	21568193	Human	2	name
41405710	CV981282	single nucleotide variant	NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)	Hypophosphatasia [RCV001835365]\|not provided [RCV001813150]	conflicting interpretations of pathogenicity\|uncertain significance	1	21563269	21563269	Human	1	name
41405272	CV981283	single nucleotide variant	NM_000478.6(ALPL):c.469G>A (p.Ala157Thr)	Hypophosphatasia [RCV001830084]\|not provided [RCV001812502]	uncertain significance	1	21563281	21563281	Human	1	name
126750051	CV987216	single nucleotide variant	NM_000478.6(ALPL):c.745G>A (p.Gly249Ser)	Adult hypophosphatasia [RCV005014380]\|Hypophosphatasia [RCV001830233]\|not provided [RCV001306765]	likely pathogenic\|uncertain significance	1	21568200	21568200	Human	2	name
126757615	CV987219	single nucleotide variant	NM_000478.6(ALPL):c.902G>A (p.Arg301Lys)	not provided [RCV001298941]	uncertain significance	1	21573704	21573704	Human		name
126911565	CV1036997	single nucleotide variant	NM_000478.6(ALPL):c.1562G>A (p.Ser521Asn)	ALPL-related disorder [RCV004548200]\|Adult hypophosphatasia [RCV005014477]\|Inborn genetic diseases [RCV004988585]\|not provided [RCV001355502]	uncertain significance	1	21577635	21577635	Human	3	alternate_id
127249535	CV1058594	single nucleotide variant	NM_000478.6(ALPL):c.1240C>A (p.Leu414Met)	ALPL-related disorder [RCV004740678]\|Adult hypophosphatasia [RCV004570954]\|Hypophosphatasia [RCV003331144]\|not provided [RCV001385127]	pathogenic\|likely pathogenic	1	21576572	21576572	Human	2	alternate_id
151762194	CV1393520	single nucleotide variant	NM_000478.6(ALPL):c.1444C>A (p.His482Asn)	ALPL-related disorder [RCV004552136]\|Adult hypophosphatasia [RCV003471181]\|Hypophosphatasia [RCV003448440]\|not provided [RCV001949280]\|not specified [RCV003155449]	pathogenic\|likely pathogenic\|uncertain significance	1	21577517	21577517	Human	2	alternate_id
151824213	CV1397862	single nucleotide variant	NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)	ALPL-related disorder [RCV004553602]\|Adult hypophosphatasia [RCV002497923]\|Adult hypophosphatasia [RCV003471221]\|not provided [RCV001976034]	pathogenic\|likely pathogenic	1	21575865	21575865	Human	2	alternate_id
156108438	CV1988569	single nucleotide variant	NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)	ALPL-related disorder [RCV004725335]\|Hypophosphatasia [RCV003447632]\|not provided [RCV002622478]\|not specified [RCV004700795]	likely pathogenic\|uncertain significance	1	21575735	21575735	Human	1	alternate_id
11581933	CV278904	single nucleotide variant	NM_000478.6(ALPL):c.1381G>A (p.Val461Ile)	ALPL-related disorder [RCV004549652]\|Hypophosphatasia [RCV000390811]\|Osteogenesis imperfecta [RCV002278337]\|not provided [RCV000514153]\|not specified [RCV002265728]	benign\|likely benign	1	21577454	21577454	Human	2	alternate_id
401933563	CV2801922	single nucleotide variant	NM_000478.6(ALPL):c.1084G>A (p.Ala362Thr)	ALPL-related disorder [RCV004552554]\|not provided [RCV003553919]	uncertain significance	1	21575819	21575819	Human	1	alternate_id
401933463	CV2802029	single nucleotide variant	NM_000478.6(ALPL):c.1442C>T (p.Pro481Leu)	ALPL-related disorder [RCV004552566]	uncertain significance	1	21577515	21577515	Human		trait , alternate_id
401913667	CV2804244	single nucleotide variant	NM_000478.6(ALPL):c.1022A>T (p.His341Leu)	ALPL-related disorder [RCV004552538]	likely pathogenic	1	21575757	21575757	Human		trait , alternate_id
8599492	CV28703	single nucleotide variant	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL-related disorder [RCV004549362]\|Adult hypophosphatasia [RCV000014652]\|Adult hypophosphatasia [RCV002496362]\|Childhood hypophosphatasia [RCV000014651]\|Hypophosphatasia [RCV000589324]\|Infantile hypophosphatasia [RCV000014650]\|Osteogenesis imperfecta [RCV00227 ... (more) 6545]\|not provided [RCV000224505]	pathogenic\|likely pathogenic	1	21573683	21573683	Human	11	alternate_id
8599492	CV28703	single nucleotide variant	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL-related disorder [RCV004549362]\|Adult hypophosphatasia [RCV000014652]\|Adult hypophosphatasia [RCV002496362]\|Childhood hypophosphatasia [RCV000014651]\|Hypophosphatasia [RCV000589324]\|Infantile hypophosphatasia [RCV000014650]\|Osteogenesis imperfecta [RCV00227 ... (more) 6545]\|not provided [RCV000224505]	pathogenic\|likely pathogenic	1	21573683	21573684	Human	11	alternate_id
8599497	CV28708	single nucleotide variant	NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	ALPL-related disorder [RCV004549363]\|Adult hypophosphatasia [RCV002504785]\|Adult hypophosphatasia [RCV003460474]\|Hypophosphatasia [RCV001582483]\|Infantile hypophosphatasia [RCV000014657]\|not provided [RCV001549327]	pathogenic\|likely pathogenic	1	21573694	21573694	Human	3	alternate_id
8599498	CV28709	single nucleotide variant	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL-related disorder [RCV004739305]\|Adult hypophosphatasia [RCV000014660]\|Adult hypophosphatasia [RCV000763300]\|Childhood hypophosphatasia [RCV000014659]\|Hypophosphatasia [RCV000207183]\|Inborn genetic diseases [RCV002513051]\|Infantile hypophosphatasia [RCV00001 ... (more) 4658]\|Odontohypophosphatasia [RCV001250150]\|Osteogenesis imperfecta [RCV002276546]\|See cases [RCV004584327]\|not provided [RCV000224962]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21564139	21564139	Human	12	alternate_id
8599498	CV28709	single nucleotide variant	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL-related disorder [RCV004739305]\|Adult hypophosphatasia [RCV000014660]\|Adult hypophosphatasia [RCV000763300]\|Childhood hypophosphatasia [RCV000014659]\|Hypophosphatasia [RCV000207183]\|Inborn genetic diseases [RCV002513051]\|Infantile hypophosphatasia [RCV00001 ... (more) 4658]\|Odontohypophosphatasia [RCV001250150]\|Osteogenesis imperfecta [RCV002276546]\|See cases [RCV004584327]\|not provided [RCV000224962]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21564139	21564140	Human	12	alternate_id
8599499	CV28710	single nucleotide variant	NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	ALPL-related disorder [RCV004549364]\|Adult hypophosphatasia [RCV000014662]\|Adult hypophosphatasia [RCV000763302]\|Childhood hypophosphatasia [RCV001847606]\|Hypophosphatasia [RCV000207084]\|Inborn genetic diseases [RCV004984641]\|Infantile hypophosphatasia [RCV00001 ... (more) 4661]\|not provided [RCV000224520]	pathogenic	1	21575868	21575868	Human	5	alternate_id
8599500	CV28711	single nucleotide variant	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL-related disorder [RCV004549365]\|Adult hypophosphatasia [RCV000763301]\|Adult hypophosphatasia [RCV000786923]\|Hypophosphatasia [RCV000207270]\|Infantile hypophosphatasia [RCV000014663]\|Osteogenesis imperfecta [RCV002276547]\|not provided [RCV000224376]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21575736	21575736	Human	4	alternate_id
8599501	CV28712	single nucleotide variant	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL-related disorder [RCV004549366]\|Adult hypophosphatasia [RCV000380876]\|Adult hypophosphatasia [RCV002504786]\|Hypophosphatasia [RCV000207096]\|Infantile hypophosphatasia [RCV000014664]\|not provided [RCV000724148]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21573781	21573781	Human	6	alternate_id
8599501	CV28712	single nucleotide variant	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL-related disorder [RCV004549366]\|Adult hypophosphatasia [RCV000380876]\|Adult hypophosphatasia [RCV002504786]\|Hypophosphatasia [RCV000207096]\|Infantile hypophosphatasia [RCV000014664]\|not provided [RCV000724148]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21573781	21573782	Human	6	alternate_id
8599505	CV28716	single nucleotide variant	NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	ALPL-related disorder [RCV004549367]\|Adult hypophosphatasia [RCV000014669]\|Childhood hypophosphatasia [RCV000014668]\|Hypophosphatasia [RCV000590781]\|Infantile hypophosphatasia [RCV000169426]\|Odontohypophosphatasia [RCV000014670]\|not provided [RCV000224118]	pathogenic\|likely pathogenic	1	21563158	21563158	Human	5	alternate_id
8599506	CV28718	single nucleotide variant	NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	ALPL-related disorder [RCV004739306]\|Adult hypophosphatasia [RCV001253058]\|Adult hypophosphatasia [RCV005016265]\|Childhood hypophosphatasia [RCV004719646]\|Hypophosphatasia [RCV001194283]\|Infantile hypophosphatasia [RCV000014672]\|Perinatal lethal hypophosphatasia ... (more) [RCV000169778]\|not provided [RCV000710510]	pathogenic\|likely pathogenic	1	21576582	21576582	Human	5	alternate_id
8599509	CV28721	single nucleotide variant	NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	ALPL-related disorder [RCV003335039]\|Adult hypophosphatasia [RCV003466859]\|Childhood hypophosphatasia [RCV000014675]\|Hypophosphatasia [RCV001826462]\|Infantile hypophosphatasia [RCV000668001]\|Odontohypophosphatasia [RCV000014676]\|not provided [RCV000723607]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21568201	21568201	Human	5	alternate_id
8599510	CV28722	single nucleotide variant	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL-related disorder [RCV004549369]\|Adult hypophosphatasia [RCV000763299]\|Adult hypophosphatasia [RCV002288490]\|Childhood hypophosphatasia [RCV000014678]\|Hypophosphatasia [RCV001275108]\|Infantile hypophosphatasia [RCV000014677]\|Osteogenesis imperfecta [RCV00227 ... (more) 6549]\|not provided [RCV000808101]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21564094	21564094	Human	11	alternate_id
8599510	CV28722	single nucleotide variant	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL-related disorder [RCV004549369]\|Adult hypophosphatasia [RCV000763299]\|Adult hypophosphatasia [RCV002288490]\|Childhood hypophosphatasia [RCV000014678]\|Hypophosphatasia [RCV001275108]\|Infantile hypophosphatasia [RCV000014677]\|Osteogenesis imperfecta [RCV00227 ... (more) 6549]\|not provided [RCV000808101]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	21564094	21564095	Human	11	alternate_id
8599511	CV28723	single nucleotide variant	NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	ALPL-related disorder [RCV004549370]\|Adult hypophosphatasia [RCV003473100]\|Adult hypophosphatasia [RCV005007851]\|Childhood hypophosphatasia [RCV000169779]\|Hypophosphatasia [RCV001804731]\|Infantile hypophosphatasia [RCV000014679]\|not provided [RCV000817506]	pathogenic	1	21570326	21570326	Human	4	alternate_id
408371262	CV3515218	single nucleotide variant	NM_000478.6(ALPL):c.878G>T (p.Gly293Val)	ALPL-related disorder [RCV004740737]	uncertain significance	1	21573680	21573680	Human		trait , alternate_id
598126163	CV3881800	single nucleotide variant	NM_000478.6(ALPL):c.511C>T (p.His171Tyr)	ALPL-related disorder [RCV005233351]	pathogenic	1	21564079	21564079	Human		trait , alternate_id
12911244	CV417655	single nucleotide variant	NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	ALPL-related disorder [RCV004740265]\|Adult hypophosphatasia [RCV002464210]\|Decreased circulating alkaline phosphatase activity [RCV000490707]\|Hypophosphatasia [RCV001805108]\|not provided [RCV001380649]	pathogenic\|likely pathogenic\|uncertain significance	1	21577476	21577476	Human	3	alternate_id
13785714	CV540861	single nucleotide variant	NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr)	ALPL-related disorder [RCV004547844]\|Adult hypophosphatasia [RCV003465511]\|Adult hypophosphatasia [RCV005019143]\|Infantile hypophosphatasia [RCV000671791]\|not provided [RCV001378583]\|not specified [RCV002265850]	pathogenic\|likely pathogenic\|uncertain significance	1	21575777	21575777	Human	3	alternate_id
13785610	CV540888	single nucleotide variant	NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)	ALPL-related disorder [RCV004547840]\|Adult hypophosphatasia [RCV003472101]\|Adult hypophosphatasia [RCV005010656]\|Hypophosphatasia [RCV001829847]\|Infantile hypophosphatasia [RCV000668539]\|not provided [RCV001066978]	pathogenic\|likely pathogenic\|uncertain significance	1	21575745	21575745	Human	3	alternate_id
13785688	CV540939	indel	NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)	ALPL-related disorder [RCV004740401]\|Adult hypophosphatasia [RCV005019140]\|Hypophosphatasia [RCV003479197]\|Infantile hypophosphatasia [RCV000670798]\|not provided [RCV003126900]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	21568105	21568105	Human		alternate_id
13785520	CV540957	single nucleotide variant	NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	ALPL-related disorder [RCV004740395]\|Adult hypophosphatasia [RCV000763303]\|Adult hypophosphatasia [RCV003465439]\|Hypophosphatasia [RCV001275110]\|Inborn genetic diseases [RCV004026080]\|Infantile hypophosphatasia [RCV000665189]\|Osteogenesis imperfecta [RCV00227948 ... (more) 0]\|not provided [RCV001050932]	pathogenic\|likely pathogenic	1	21575906	21575906	Human	5	alternate_id
26889313	CV823359	single nucleotide variant	NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)	ALPL-related disorder [RCV004547968]\|Adult hypophosphatasia [RCV005021404]\|Hypophosphatasia [RCV003448366]\|not provided [RCV001063193]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	21575769	21575769	Human	2	alternate_id
26887985	CV823364	single nucleotide variant	NM_000478.6(ALPL):c.1310C>T (p.Ala437Val)	ALPL-related disorder [RCV004553575]\|Hypophosphatasia [RCV001827252]\|not provided [RCV001041986]	uncertain significance	1	21577383	21577383	Human	1	alternate_id
26888315	CV823366	single nucleotide variant	NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	ALPL-related disorder [RCV004553586]\|Adult hypophosphatasia [RCV002479289]\|Adult hypophosphatasia [RCV003462538]\|Inborn genetic diseases [RCV004986759]\|Infantile hypophosphatasia [RCV001844265]\|not provided [RCV001047689]	pathogenic\|likely pathogenic	1	21577499	21577499	Human	4	alternate_id
405210771	CV3117712	insertion	NM_000478.6(ALPL):c.863-13_863-12insGGTCCCC	not provided [RCV003823311]	likely benign	1	21573652	21573653	Human		name
597693912	CV3711729	indel	NM_000478.6(ALPL):c.863-12_863-7delinsGGTCCCCGGTCCC	Adult hypophosphatasia [RCV005007640]	uncertain significance	1	21573653	21573658	Human		name
150426489	CV1186114	microsatellite	NM_000478.6(ALPL):c.1190-268_1190-267insGATGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGATG	not provided [RCV001559641]	likely benign	1	21576224	21576225	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message