249[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 3354216	NM_000478.6(ALPL):c.-197C>A	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	ALPL-related disorder	GLikely benign
Select item 991457	NM_000478.6(ALPL):c.-194G>A	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	Adult hypophosphatasia +2 more	GUncertain significance
Select item 689539	NM_000478.6(ALPL):c.-176C>T	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	Adult hypophosphatasia +2 more	GUncertain significance
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 295540	NM_000478.6(ALPL):c.-81G>A	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	Hypophosphatasia	GUncertain significance
Select item 876664	NM_000478.6(ALPL):c.-51C>T	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	Hypophosphatasia	GUncertain significance
Select item 2690888	NM_000478.6(ALPL):c.-6T>C	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2663553	NM_000478.6(ALPL):c.-3A>C	ALPL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 2700107	NM_000478.6(ALPL):c.3G>C (p.Met1Ile)	ALPL (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1651338	NM_000478.6(ALPL):c.9A>T (p.Ser3=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 518424	NM_000478.6(ALPL):c.18del (p.Val7fs)	ALPL (V7fs)	Deletion (frameshift variant +1 more)	Hypophosphatasia +1 more	GPathogenic
Select item 966449	NM_000478.6(ALPL):c.21_32delinsGTGT (p.Leu8fs)	ALPL (L8fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 2191834	NM_000478.6(ALPL):c.22C>G (p.Leu8Val)	ALPL (L8V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1540659	NM_000478.6(ALPL):c.22C>T (p.Leu8=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2696584	NM_000478.6(ALPL):c.24G>A (p.Leu8=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2596952	NM_000478.6(ALPL):c.25G>T (p.Ala9Ser)	ALPL (A9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 876665	NM_000478.6(ALPL):c.26C>T (p.Ala9Val)	ALPL (A9V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 2573417	NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)	ALPL (I10T)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2977794	NM_000478.6(ALPL):c.32G>A (p.Gly11Asp)	ALPL (G11D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1044512	NM_000478.6(ALPL):c.35C>T (p.Thr12Ile)	ALPL (T12I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 382314	NM_000478.6(ALPL):c.40C>T (p.Leu14Phe)	ALPL (L14F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334788	NM_000478.6(ALPL):c.41T>C (p.Leu14Pro)	ALPL (L14P)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 370095	NM_000478.6(ALPL):c.46_49del (p.Asn16fs)	ALPL (N16fs)	Deletion (frameshift variant +1 more)	Hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 740173	NM_000478.6(ALPL):c.44C>G (p.Thr15Ser)	ALPL (T15S)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia +1 more	GLikely benign
Select item 2825055	NM_000478.6(ALPL):c.45T>C (p.Thr15=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055010	NM_000478.6(ALPL):c.51C>G (p.Ser17=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 556427	NM_000478.6(ALPL):c.61G>A (p.Glu21Lys)	ALPL (E21K)	Single nucleotide variant (missense variant +1 more)	Infantile hypophosphatasia	GUncertain significance
Select item 370303	NM_000478.6(ALPL):c.61+2T>G	ALPL	Single nucleotide variant (splice donor variant +1 more)	Infantile hypophosphatasia	GLikely pathogenic
Select item 1468943	NM_000478.6(ALPL):c.61+3A>G	ALPL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2920100	NM_000478.6(ALPL):c.61+7T>C	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184319	NM_000478.6(ALPL):c.61+10G>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094328	NM_000478.6(ALPL):c.61+10G>C	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740346	NM_000478.6(ALPL):c.61+11G>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899842	NM_000478.6(ALPL):c.61+16C>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978292	NM_000478.6(ALPL):c.61+19G>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1980971	NM_000478.6(ALPL):c.61+20T>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200875	NM_000478.6(ALPL):c.61+121T>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253752	NM_000478.6(ALPL):c.61+184AT[9]	ALPL	Microsatellite (intron variant)	not provided	GBenign
Select item 1218508	NM_000478.6(ALPL):c.61+184AT[8]	ALPL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1196947	NM_000478.6(ALPL):c.61+184AT[11]	ALPL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1226669	NM_000478.6(ALPL):c.62-300C>T	ALPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216842	NM_000478.6(ALPL):c.62-63T>G	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344543	NM_000478.6(ALPL):c.62-29G>A	ALPL	Single nucleotide variant (intron variant)	Hypophosphatasia	GLikely benign
Select item 2954592	NM_000478.6(ALPL):c.62-20C>T	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994257	NM_000478.6(ALPL):c.62-18G>T	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1604178	NM_000478.6(ALPL):c.62-18G>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981535	NM_000478.6(ALPL):c.62-16CT[3]	ALPL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2151642	NM_000478.6(ALPL):c.62-16CT[2]	ALPL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2791812	NM_000478.6(ALPL):c.62-14C>T	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787430	NM_000478.6(ALPL):c.62-14C>G	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586023	NM_000478.6(ALPL):c.62-11T>C	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540368	NM_000478.6(ALPL):c.62-11T>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658635	NM_000478.6(ALPL):c.62-10C>G	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1117176	NM_000478.6(ALPL):c.62-10C>T	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184483	NM_000478.6(ALPL):c.62-6_62-5del	ALPL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1961598	NM_000478.6(ALPL):c.62-9T>G	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1102233	NM_000478.6(ALPL):c.62-8G>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1114647	NM_000478.6(ALPL):c.62-6G>A	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1334790	NM_000478.6(ALPL):c.69_74del	ALPL	Microsatellite (splice acceptor variant)	Hypophosphatasia	GLikely pathogenic
Select item 2860222	NM_000478.6(ALPL):c.62-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3339415	NM_000478.6(ALPL):c.67G>A (p.Glu23Lys)	ALPL (E23K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1129868	NM_000478.6(ALPL):c.69G>A (p.Glu23=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1958087	NM_000478.6(ALPL):c.78C>T (p.Pro26=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 551645	NM_000478.6(ALPL):c.87G>A (p.Trp29Ter)	ALPL (W29*)	Single nucleotide variant (nonsense +1 more)	Infantile hypophosphatasia	GLikely pathogenic
Select item 1307053	NM_000478.6(ALPL):c.88C>G (p.Arg30Gly)	ALPL (R30G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 370232	NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)	ALPL (R30*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1466124	NM_000478.6(ALPL):c.91G>A (p.Asp31Asn)	ALPL (D31N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1536828	NM_000478.6(ALPL):c.93C>T (p.Asp31=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 974971	NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)	ALPL (Q32*)	Single nucleotide variant (nonsense +1 more)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 3251693	NM_000478.6(ALPL):c.97G>C (p.Ala33Pro)	ALPL (A33P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 1150467	NM_000478.6(ALPL):c.99G>T (p.Ala33=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 795792	NM_000478.6(ALPL):c.99G>A (p.Ala33=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1334401	NM_000478.6(ALPL):c.106A>C (p.Thr36Pro)	ALPL (T36P)	Single nucleotide variant (missense variant +1 more)	ALPL-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 295541	NM_000478.6(ALPL):c.107C>T (p.Thr36Ile)	ALPL (T36I)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GUncertain significance
Select item 876666	NM_000478.6(ALPL):c.109C>T (p.Leu37=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 1576170	NM_000478.6(ALPL):c.111G>A (p.Leu37=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 371503	NM_000478.6(ALPL):c.114del (p.Lys38fs)	ALPL (K38fs)	Deletion (frameshift variant +1 more)	Infantile hypophosphatasia	GLikely pathogenic
Select item 2439005	NM_000478.6(ALPL):c.116A>G (p.Tyr39Cys)	ALPL (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1645928	NM_000478.6(ALPL):c.117T>C (p.Tyr39=)	ALPL (M1T)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1469393	NM_000478.6(ALPL):c.118G>A (p.Ala40Thr)	ALPL (A40T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 1539797	NM_000478.6(ALPL):c.120C>T (p.Ala40=)	ALPL (P2L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1184268	NM_000478.6(ALPL):c.127C>T (p.Leu43Phe)	ALPL (L43F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 370178	NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)	ALPL (Q44*)	Single nucleotide variant (nonsense +2 more)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1084218	NM_000478.6(ALPL):c.135G>A (p.Lys45=)	ALPL (S7N)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1334791	NM_000478.6(ALPL):c.140A>T (p.Asn47Ile)	ALPL (N47I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 1937271	NM_000478.6(ALPL):c.143C>T (p.Thr48Ile)	ALPL (T48I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1907402	NM_000478.6(ALPL):c.145A>G (p.Asn49Asp)	ALPL (N49D)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3013376	NM_000478.6(ALPL):c.146A>G (p.Asn49Ser)	ALPL (N49S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1338725	NM_000478.6(ALPL):c.146A>T (p.Asn49Ile)	ALPL (N49I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 554846	NM_000478.6(ALPL):c.147C>T (p.Asn49=)	ALPL (T11M)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign

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