C0268413[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518424	NM_000478.6(ALPL):c.18del (p.Val7fs)	ALPL (V7fs)	Deletion (frameshift variant +1 more)	Hypophosphatasia +1 more	GPathogenic
Select item 974971	NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)	ALPL (Q32*)	Single nucleotide variant (nonsense +1 more)	Hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 13667	NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	ALPL (A33V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2202712	NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)	ALPL (L37P)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +1 more	GLikely pathogenic
Select item 975919	NM_000478.6(ALPL):c.119C>T (p.Ala40Val)	ALPL (A40V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 2573416	NM_000478.6(ALPL):c.152C>T (p.Ala51Val)	ALPL (A51V)	Single nucleotide variant (missense variant +2 more)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1076060	NM_000478.6(ALPL):c.203C>T (p.Thr68Met)	ALPL (T13M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2676552	NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)	ALPL (R16S +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 13663	NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	ALPL (R71C +1 more)	Single nucleotide variant (missense variant +1 more)	Infantile hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 1070177	NM_000478.6(ALPL):c.212G>A (p.Arg71His)	ALPL (R16H +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +1 more	GPathogenic
Select item 13665	NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)	ALPL (R71P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 188928	NM_000478.6(ALPL):c.215T>C (p.Ile72Thr)	ALPL (I72T +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1070178	NM_000478.6(ALPL):c.223G>A (p.Gly75Ser)	ALPL (G20S +1 more)	Single nucleotide variant (missense variant +1 more)	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 381585	NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)	ALPL (Q76R +1 more)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +2 more	GPathogenic/Likely pathogenic
Select item 427763	NM_000478.6(ALPL):c.283G>A (p.Val95Met)	ALPL (V95M +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood hypophosphatasia +4 more	GConflicting classifications of pathogenicity
Select item 2676694	NM_000478.6(ALPL):c.298-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	Adult hypophosphatasia	GPathogenic
Select item 812034	NM_000478.6(ALPL):c.299C>T (p.Thr100Met)	ALPL (T100M +2 more)	Single nucleotide variant (missense variant)	not provided +3 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 553805	NM_000478.6(ALPL):c.318G>C (p.Gln106His)	ALPL (Q106H +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 829876	NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)	ALPL (A111T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585386	NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup)	ALPL	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 549969	NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)	ALPL (G112S +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +1 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 449399	NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)	ALPL (A114T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 13677	NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	ALPL (A116T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 873825	NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)	ALPL (Y117C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GConflicting classifications of pathogenicity
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 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 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 493003	NM_000478.6(ALPL):c.360_361del (p.Val121fs)	ALPL (V121fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 555231	NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)	ALPL (A123D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 1489679	NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)	ALPL (A77T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 594951	NM_000478.6(ALPL):c.395C>T (p.Ala132Val)	ALPL (A132V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 188877	NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)	ALPL (T134H +2 more)	Indel (missense variant)	Infantile hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 964572	NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)	ALPL (R81C +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 13675	NM_000478.6(ALPL):c.407G>A (p.Arg136His)	ALPL (R136H +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +5 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 551980	NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)	ALPL (T141N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 1387764	NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)	ALPL (W76* +2 more)	Single nucleotide variant (nonsense)	Infantile hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1355608	NM_000478.6(ALPL):c.480del (p.Val161fs)	ALPL (V161fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1076159	NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)	ALPL (G107S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 975901	NM_000478.6(ALPL):c.500C>T (p.Thr167Met)	ALPL (T112M +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 3241947	NM_000478.6(ALPL):c.501_503delinsC (p.Arg168fs)	ALPL (R113fs +2 more)	Indel (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 1067343	NM_000478.6(ALPL):c.508A>G (p.Asn170Asp)	ALPL (N115D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2202713	NM_000478.6(ALPL):c.512A>G (p.His171Arg)	ALPL (H116R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 371067	NM_000478.6(ALPL):c.522del (p.Ser175fs)	ALPL (S120fs +2 more)	Deletion (frameshift variant)	Hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 13683	NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	ALPL (A176T +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 556961	NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)	ALPL (A177T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +5 more	GConflicting classifications of pathogenicity
Select item 427764	NM_000478.6(ALPL):c.530C>T (p.Ala177Val)	ALPL (A177V +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GConflicting classifications of pathogenicity
Select item 1076160	NM_000478.6(ALPL):c.532T>C (p.Tyr178His)	ALPL (Y101H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely 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 13662	NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	ALPL (A179T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 188798	NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	ALPL (S181L +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 521379	NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	ALPL (R184W +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 930907	NM_000478.6(ALPL):c.568_570del (p.Asn190del)	ALPL (N135del +2 more)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely 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 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +8 more	GPathogenic/Likely pathogenic
Select item 968006	NM_000478.6(ALPL):c.575T>C (p.Met192Thr)	ALPL (M137T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1724538	NM_000478.6(ALPL):c.581_582del (p.Pro194fs)	ALPL (P117fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 3241860	NM_000478.6(ALPL):c.583G>T (p.Glu195Ter)	ALPL (E118* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia	GLikely pathogenic
Select item 1921627	NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	ALPL (A128T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2676591	NM_000478.6(ALPL):c.648+1G>T	ALPL	Single nucleotide variant (splice donor variant)	Adult hypophosphatasia	GPathogenic
Select item 13678	NM_000478.6(ALPL):c.648+1G>A	ALPL	Single nucleotide variant (splice donor variant)	Infantile hypophosphatasia +3 more	GPathogenic
Select item 1473817	NM_000478.6(ALPL):c.649-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	Adult hypophosphatasia +3 more	GLikely pathogenic
Select item 1047062	NM_000478.6(ALPL):c.655A>G (p.Met219Val)	ALPL (M219V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370379	NM_000478.6(ALPL):c.662dup (p.Gly222fs)	ALPL (G167fs +2 more)	Duplication (frameshift variant)	not provided +2 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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 996236	NM_000478.6(ALPL):c.662del (p.Gly221fs)	ALPL (G144fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 554408	NM_000478.6(ALPL):c.658G>A (p.Gly220Arg)	ALPL (G220R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GConflicting classifications of pathogenicity
Select item 1076161	NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)	ALPL (G143A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic
Select item 558588	NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)	ALPL (G221R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189001	NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)	ALPL (R223W +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 381586	NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)	ALPL (R223Q +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GPathogenic
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 2666835	NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)	ALPL (Y159C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 13682	NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	ALPL (G249V +2 more)	Single nucleotide variant (missense variant)	ALPL-related disorder +4 more	GPathogenic
Select item 3241919	NM_000478.6(ALPL):c.785_786del (p.Arg262fs)	ALPL (R185fs +2 more)	Microsatellite (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 188750	NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)	ALPL (K264R +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 189023	NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)	ALPL (W270* +2 more)	Single nucleotide variant (nonsense)	Hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 1916165	NM_000478.6(ALPL):c.814del (p.Arg272fs)	ALPL (R195fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13684	NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	ALPL (R272C +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic
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 495882	NM_000478.6(ALPL):c.815G>A (p.Arg272His)	ALPL (R272H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 943632	NM_000478.6(ALPL):c.824T>C (p.Leu275Pro)	ALPL (L220P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1994421	NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)	ALPL (Y285* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia +1 more	GPathogenic
Select item 553756	NM_000478.6(ALPL):c.862+1G>A	ALPL	Single nucleotide variant (splice donor variant)	Adult hypophosphatasia +1 more	GPathogenic/Likely pathogenic
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 446464	NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del)	ALPL	Indel (inframe_deletion)	Adult hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 13664	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL (D294A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +6 more	GPathogenic
Select item 1402715	NM_000478.6(ALPL):c.884T>C (p.Met295Thr)	ALPL (M240T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 189102	NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)	ALPL (Y297* +2 more)	Single nucleotide variant (nonsense)	Infantile hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 13669	NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)	ALPL (E298K +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 1435973	NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)	ALPL (L244P +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 287510	NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)	ALPL (P307L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 370704	NM_000478.6(ALPL):c.928_929del (p.Ser310fs)	ALPL (S233fs +2 more)	Microsatellite (frameshift variant)	Infantile hypophosphatasia +2 more	GPathogenic/Likely pathogenic
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

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