ClinVar for MedGen (Select 120636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068278	NM_000478.6(ALPL):c.173T>C (p.Leu58Pro)	ALPL (L3P +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 3064365	NM_000478.6(ALPL):c.293C>T (p.Ser98Phe)	ALPL (S43F +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia	GUncertain significance
Select item 3028923	NM_000478.5:g.(?_21835231)_(21904741_?)dup	ALPL	Duplication	Adult hypophosphatasia	GUncertain significance
Select item 3015935	NM_000478.6(ALPL):c.1097C>T (p.Thr366Ile)	ALPL (T289I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2676694	NM_000478.6(ALPL):c.298-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	Adult hypophosphatasia	GPathogenic
Select item 2676678	NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)	ALPL (A322V +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676624	NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)	ALPL (Y117* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676602	NM_000478.6(ALPL):c.573_574del (p.Glu191fs)	ALPL (E114fs +2 more)	Microsatellite (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676595	NM_000478.6(ALPL):c.1372del (p.Asp458fs)	ALPL (D381fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676591	NM_000478.6(ALPL):c.648+1G>T	ALPL	Single nucleotide variant (splice donor variant)	Adult hypophosphatasia	GPathogenic
Select item 2676588	NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)	ALPL (G349D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676587	NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)	ALPL (Q21* +1 more)	Single nucleotide variant (nonsense +1 more)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676585	NM_000478.6(ALPL):c.382G>A (p.Val128Met)	ALPL (V128M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2676576	NM_000478.6(ALPL):c.1499_1500delinsG (p.Ala500fs)	ALPL (A423fs +2 more)	Indel (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676552	NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)	ALPL (R16S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676516	NM_000478.6(ALPL):c.413G>C (p.Arg138Pro)	ALPL (R138P +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676497	NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)	ALPL (Y101* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 2676481	NM_000478.6(ALPL):c.358G>A (p.Gly120Arg)	ALPL (G120R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676439	NM_000478.6(ALPL):c.385G>A (p.Gly129Arg)	ALPL (G129R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2666835	NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)	ALPL (Y159C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2665103	NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)	ALPL (G343S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GLikely pathogenic
Select item 2582753	NM_000478.6(ALPL):c.877_882del (p.Gly293_Asp294del)	ALPL	Deletion (inframe_deletion)	Adult hypophosphatasia	GLikely pathogenic
Select item 2446425	NM_000478.6(ALPL):c.1068C>A (p.Asp356Glu)	ALPL (D279E +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GUncertain significance
Select item 2413183	NM_000478.6(ALPL):c.1468A>C (p.Ile490Leu)	ALPL (I413L +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GUncertain significance
Select item 2202713	NM_000478.6(ALPL):c.512A>G (p.His171Arg)	ALPL (H116R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic
Select item 2202712	NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)	ALPL (L37P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2035636	NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)	ALPL (Y150* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 1921627	NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	ALPL (A128T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GUncertain significance
Select item 1916165	NM_000478.6(ALPL):c.814del (p.Arg272fs)	ALPL (R195fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 1809680	NM_000478.6(ALPL):c.329G>A (p.Ser110Asn)	ALPL (S110N +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GUncertain significance
Select item 1726895	NM_000478.6(ALPL):c.511del (p.His171fs)	ALPL (H116fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1726767	NM_000478.6(ALPL):c.716_719delinsTAATGT (p.Asp239fs)	ALPL (D162fs +2 more)	Indel (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1725911	NM_000478.6(ALPL):c.434_437del (p.Asn145fs)	ALPL (N145fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1725441	NM_000478.6(ALPL):c.394del (p.Ala132fs)	ALPL (A132fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1725345	NM_000478.6(ALPL):c.907_908insCACG (p.Asn303fs)	ALPL (N226fs +2 more)	Insertion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1725271	NM_000478.6(ALPL):c.567_568del (p.Asp189fs)	ALPL (D112fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1725008	NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter)	ALPL (E274* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1724770	NM_000478.6(ALPL):c.750_751del (p.Asp251fs)	ALPL (D174fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1724538	NM_000478.6(ALPL):c.581_582del (p.Pro194fs)	ALPL (P117fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1723967	NM_000478.6(ALPL):c.799del (p.His267fs)	ALPL (H190fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1709745	NM_000478.6(ALPL):c.1420G>A (p.Val474Ile)	ALPL (V397I +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GUncertain significance
Select item 1686653	NM_000478.6(ALPL):c.1307A>C (p.Tyr436Ser)	ALPL (Y359S +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +2 more	GUncertain significance
Select item 1609388	NM_000478.6(ALPL):c.1189+11C>T	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1498590	NM_000478.6(ALPL):c.1268T>C (p.Val423Ala)	ALPL (V423A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1497994	NM_000478.6(ALPL):c.241C>T (p.Pro81Ser)	ALPL (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1489679	NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)	ALPL (A77T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GLikely pathogenic
Select item 1476451	NM_000478.6(ALPL):c.352C>A (p.Leu118Met)	ALPL (L118M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1473817	NM_000478.6(ALPL):c.649-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 1472480	NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)	ALPL (A377V +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1472412	NM_000478.6(ALPL):c.997+3A>C	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +1 more	GLikely pathogenic
Select item 1470828	NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)	ALPL (R75C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GConflicting classifications of pathogenicity
Select item 1467776	NM_000478.6(ALPL):c.1189+5del	ALPL	Deletion (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1464855	NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp)	ALPL (G378D +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1457579	NM_000478.6(ALPL):c.1444C>A (p.His482Asn)	ALPL (H405N +2 more)	Single nucleotide variant (missense variant)	ALPL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1457572	NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)	ALPL (F272C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1457567	NM_000478.6(ALPL):c.815G>T (p.Arg272Leu)	ALPL (R195L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1455042	NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser)	ALPL (G426S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1455037	NM_000478.6(ALPL):c.1120G>A (p.Val374Met)	ALPL (V297M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1452498	NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)	ALPL (I395V +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1439050	NM_000478.6(ALPL):c.551G>A (p.Arg184Gln)	ALPL (R107Q +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +3 more	GPathogenic
Select item 1436006	NM_000478.6(ALPL):c.931G>A (p.Glu311Lys)	ALPL (E256K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1402715	NM_000478.6(ALPL):c.884T>C (p.Met295Thr)	ALPL (M240T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1387764	NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)	ALPL (W76* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 1355608	NM_000478.6(ALPL):c.480del (p.Val161fs)	ALPL (V161fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +1 more	GPathogenic
Select item 1339258	NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)	ALPL (E28* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1334158	NM_000478.6(ALPL):c.547G>A (p.Asp183Asn)	ALPL (D106N +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 1330459	NM_000478.6(ALPL):c.863-15T>C	ALPL	Single nucleotide variant (intron variant)	Infantile hypophosphatasia +3 more	GLikely benign
Select item 1323883	NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)	ALPL (P215T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1323882	NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3])	ALPL	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1313062	NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)	ALPL (G172A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1300140	NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)	ALPL (E399A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1224381	NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	ALPL (M142I +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1224321	NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)	ALPL (T312N +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1200330	NM_000478.6(ALPL):c.-104-5T>C	ALPL	Single nucleotide variant (intron variant)	Childhood hypophosphatasia +3 more	GLikely benign
Select item 1190598	NM_000478.6(ALPL):c.473-12C>T	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1184268	NM_000478.6(ALPL):c.127C>T (p.Leu43Phe)	ALPL (L43F)	Single nucleotide variant (5 prime UTR variant +2 more)	Adult hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 1177630	NM_000478.6(ALPL):c.473-70A>G	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1177624	NM_000478.6(ALPL):c.298-97C>T	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1177605	NM_000478.6(ALPL):c.1190-65C>A	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1177590	NM_000478.6(ALPL):c.862+58C>T	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1177589	NM_000478.6(ALPL):c.862+51G>A	ALPL	Single nucleotide variant (intron variant)	Infantile hypophosphatasia +3 more	GBenign
Select item 1177588	NM_000478.6(ALPL):c.792+76T>C	ALPL	Single nucleotide variant (intron variant)	Infantile hypophosphatasia +3 more	GBenign
Select item 1152675	NM_000478.6(ALPL):c.282C>T (p.Phe94=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1151809	NM_000478.6(ALPL):c.1047G>T (p.Leu349=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1145196	NM_000478.6(ALPL):c.1455G>A (p.Ala485=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1144823	NM_000478.6(ALPL):c.918C>T (p.Asp306=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1142227	NM_000478.6(ALPL):c.339C>T (p.Thr113=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1137474	NM_000478.6(ALPL):c.1310-5C>T	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1126630	NM_000478.6(ALPL):c.863-8C>T	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1125003	NM_000478.6(ALPL):c.660G>T (p.Gly220=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1116252	NM_000478.6(ALPL):c.1056G>A (p.Ala352=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1115861	NM_000478.6(ALPL):c.582T>C (p.Pro194=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1113340	NM_000478.6(ALPL):c.393C>T (p.Ser131=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1103152	NM_000478.6(ALPL):c.1143C>T (p.His381=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1076161	NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)	ALPL (G143A +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 1076160	NM_000478.6(ALPL):c.532T>C (p.Tyr178His)	ALPL (Y101H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1076159	NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)	ALPL (G107S +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1076087	NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter)	ALPL (Y101* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1076060	NM_000478.6(ALPL):c.203C>T (p.Thr68Met)	ALPL (T13M +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1074643	NM_000478.6(ALPL):c.997G>T (p.Gly333Ter)	ALPL (G256* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic

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