ClinVar for PubMed (Select 25731960) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2893967	NM_000478.6(ALPL):c.1241T>C (p.Leu414Pro)	ALPL (L337P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2890088	NM_000478.6(ALPL):c.880G>A (p.Asp294Asn)	ALPL (D239N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2836742	NM_000478.6(ALPL):c.187G>T (p.Gly63Cys)	ALPL (G63C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2828679	NM_000478.6(ALPL):c.550C>G (p.Arg184Gly)	ALPL (R184G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2820741	NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)	ALPL (E375D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2800155	NM_000478.6(ALPL):c.881A>G (p.Asp294Gly)	ALPL (D217G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2779957	NM_000478.6(ALPL):c.98C>G (p.Ala33Gly)	ALPL (A33G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2761086	NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)	ALPL (G143E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 2733837	NM_000478.6(ALPL):c.211C>G (p.Arg71Gly)	ALPL (R16G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2700107	NM_000478.6(ALPL):c.3G>C (p.Met1Ile)	ALPL (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
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 2664952	NM_000478.6(ALPL):c.659G>T (p.Gly220Val)	ALPL (G143V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2576975	NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)	ALPL (G343A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 2414237	NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)	ALPL (H405Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2202716	NM_000478.6(ALPL):c.662G>T (p.Gly221Val)	ALPL (G144V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2111543	NM_000478.6(ALPL):c.1240C>G (p.Leu414Val)	ALPL (L359V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1467776	NM_000478.6(ALPL):c.1189+5del	ALPL	Deletion (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1466600	NM_000478.6(ALPL):c.346G>T (p.Ala116Ser)	ALPL (A116S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1465466	NM_000478.6(ALPL):c.422C>T (p.Thr141Ile)	ALPL (T64I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely 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 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 1405036	NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)	ALPL (E397K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1382079	NM_000478.6(ALPL):c.1A>G (p.Met1Val)	ALPL (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1303082	NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp)	ALPL (G320D +2 more)	Single nucleotide variant (missense variant)	not specified +1 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 1076697	NM_000478.6(ALPL):c.182-2A>G	ALPL	Single nucleotide variant (splice acceptor variant +1 more)	Hypophosphatasia +1 more	GPathogenic/Likely pathogenic
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 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 1072423	NM_000478.6(ALPL):c.1240C>A (p.Leu414Met)	ALPL (L337M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1070178	NM_000478.6(ALPL):c.223G>A (p.Gly75Ser)	ALPL (G20S +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +1 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 1066773	NC_000001.10:g.(?_21900138)_(21900312_?)del	ALPL	Deletion	not provided	GPathogenic
Select item 1035693	NM_000478.6(ALPL):c.661G>T (p.Gly221Cys)	ALPL (G144C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1030812	NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	ALPL (A366V +2 more)	Single nucleotide variant (missense variant)	not provided +4 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)	ALPL-related condition +2 more	GPathogenic/Likely pathogenic
Select item 844755	NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	ALPL (E421K +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 834950	NM_000478.6(ALPL):c.876_881del (p.Gly293_Asp294del)	ALPL	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 832569	NC_000001.11:g.(?_21573655)_(21573809_?)del	ALPL	Deletion	not provided	GLikely pathogenic
Select item 665051	NC_000001.11:g.(?_21575723)_(21575934_?)del	ALPL	Deletion	not provided	GLikely pathogenic
Select item 558588	NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)	ALPL (G221R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 558387	NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys)	ALPL (E429K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556859	NM_000478.6(ALPL):c.629A>G (p.His210Arg)	ALPL (H210R +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 556746	NM_000478.6(ALPL):c.1132G>C (p.Asp378His)	ALPL (D378H +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 556327	NM_000478.6(ALPL):c.997+3A>G	ALPL	Single nucleotide variant (intron variant)	Infantile hypophosphatasia	GUncertain significance
Select item 554532	NM_000478.6(ALPL):c.427del (p.Gln143fs)	ALPL (Q66fs +2 more)	Deletion (frameshift variant)	Infantile hypophosphatasia +1 more	GPathogenic/Likely pathogenic
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 553154	NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)	ALPL (D337G +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +4 more	GConflicting classifications of pathogenicity
Select item 552330	NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)	ALPL (S317fs +2 more)	Microsatellite (frameshift variant)	Hypophosphatasia +3 more	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 551666	NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)	ALPL (R136P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550626	NM_000478.6(ALPL):c.1172G>A (p.Arg391His)	ALPL (R391H +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +1 more	GPathogenic
Select item 550442	NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)	ALPL (R391C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +6 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)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 500024	NM_000478.6(ALPL):c.188G>T (p.Gly63Val)	ALPL (G63V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 429390	NM_000478.6(ALPL):c.1349G>A (p.Arg450His)	ALPL (R450H +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 371400	NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	ALPL (G455S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 371247	NM_000478.6(ALPL):c.129del (p.Gln44fs)	ALPL (F5fs +1 more)	Deletion (frameshift variant +1 more)	not provided +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)	Osteogenesis imperfecta +6 more	GPathogenic/Likely pathogenic
Select item 13679	NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	ALPL (N417S +2 more)	Single nucleotide variant (missense variant)	Adult 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)	ALPL-related condition +4 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 13671	NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	ALPL (D378V +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +5 more	GPathogenic
Select item 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +8 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 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 13664	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL (D294A +2 more)	Single nucleotide variant (missense variant)	ALPL-related condition +6 more	GPathogenic
Select item 13663	NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	ALPL (R71C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	Childhood hypophosphatasia +4 more	GPathogenic/Likely pathogenic

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Items: 69