ClinVar for MedGen (Select 75677) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 212

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661899	NM_000478.6(ALPL):c.1161A>G (p.Gly387=)	ALPL	Single nucleotide variant (synonymous variant)	Infantile hypophosphatasia	GLikely pathogenic
Select item 2627376	NM_000478.6(ALPL):c.952C>T (p.Gln318Ter)	ALPL (Q241* +2 more)	Single nucleotide variant (nonsense)	Infantile hypophosphatasia	GLikely 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)	Adult hypophosphatasia +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 1721046	NM_000478.6(ALPL):c.370A>G (p.Asn124Asp)	ALPL (N124D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709113	NM_000478.6(ALPL):c.1439del (p.Val480fs)	ALPL (V403fs +2 more)	Deletion (frameshift variant)	Infantile hypophosphatasia	GLikely pathogenic
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)	not provided +3 more	GLikely benign
Select item 1497994	NM_000478.6(ALPL):c.241C>T (p.Pro81Ser)	ALPL (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia +3 more	GUncertain significance
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 1472480	NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)	ALPL (A377V +2 more)	Single nucleotide variant (missense variant)	ALPL-related disorder +4 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 1455037	NM_000478.6(ALPL):c.1120G>A (p.Val374Met)	ALPL (V297M +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +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)	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)	Adult 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 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 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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1330459	NM_000478.6(ALPL):c.863-15T>C	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
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 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)	Childhood hypophosphatasia +3 more	GBenign/Likely benign
Select item 1184551	NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val)	COL11A2 (L1611V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177630	NM_000478.6(ALPL):c.473-70A>G	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GBenign
Select item 1177624	NM_000478.6(ALPL):c.298-97C>T	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GBenign
Select item 1177605	NM_000478.6(ALPL):c.1190-65C>A	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GBenign
Select item 1177590	NM_000478.6(ALPL):c.862+58C>T	ALPL	Single nucleotide variant (intron variant)	Childhood hypophosphatasia +3 more	GBenign
Select item 1177589	NM_000478.6(ALPL):c.862+51G>A	ALPL	Single nucleotide variant (intron variant)	Childhood hypophosphatasia +3 more	GBenign
Select item 1177588	NM_000478.6(ALPL):c.792+76T>C	ALPL	Single nucleotide variant (intron variant)	Childhood hypophosphatasia +3 more	GBenign
Select item 1152675	NM_000478.6(ALPL):c.282C>T (p.Phe94=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	Adult hypophosphatasia +3 more	GLikely benign
Select item 1151809	NM_000478.6(ALPL):c.1047G>T (p.Leu349=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +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)	not provided +3 more	GLikely benign
Select item 1142227	NM_000478.6(ALPL):c.339C>T (p.Thr113=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1137474	NM_000478.6(ALPL):c.1310-5C>T	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +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)	Adult hypophosphatasia +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 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)	not provided +4 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 1030812	NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	ALPL (A366V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 993673	NM_000478.6(ALPL):c.182-15C>G	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely 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 978707	NM_000478.6(ALPL):c.617A>G (p.Tyr206Cys)	ALPL (Y129C +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia	GLikely pathogenic
Select item 971527	NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)	ALPL (R450C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 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 provided +3 more	GConflicting classifications of pathogenicity
Select item 967775	NM_000478.6(ALPL):c.914C>T (p.Thr305Met)	ALPL (T305M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 940683	NM_000478.6(ALPL):c.1077C>G (p.Ile359Met)	ALPL (I282M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 918153	NM_000478.6(ALPL):c.935TGG[3] (p.Val315del)	ALPL (V238del +2 more)	Microsatellite (inframe_deletion)	not specified +3 more	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 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 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 853798	NM_000478.6(ALPL):c.997+1G>T	ALPL	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 850181	NM_000478.6(ALPL):c.431G>A (p.Gly144Glu)	ALPL (G144E +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 795743	NM_000478.6(ALPL):c.297+9C>A	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 793622	NM_000478.6(ALPL):c.1446C>T (p.His482=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 765923	NM_000478.6(ALPL):c.1419C>T (p.Gly473=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 755336	NM_000478.6(ALPL):c.528C>T (p.Ala176=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 747083	NM_000478.6(ALPL):c.1482C>T (p.Leu494=)	ALPL	Single nucleotide variant (synonymous variant)	Infantile hypophosphatasia +3 more	GBenign/Likely benign
Select item 738556	NM_000478.6(ALPL):c.859T>C (p.Leu287=)	ALPL	Single nucleotide variant (synonymous variant)	Childhood hypophosphatasia +4 more	GBenign/Likely benign
Select item 735085	NM_000478.6(ALPL):c.468C>T (p.Asp156=)	ALPL	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 721264	NM_000478.6(ALPL):c.1437C>T (p.Tyr479=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 637014	NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg)	ALPL (G360R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GUncertain significance
Select item 635465	NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)	ALPL (G200S +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia	GLikely pathogenic
Select item 632628	NM_000478.6(ALPL):c.1171del (p.Arg391fs)	ALPL (R314fs +2 more)	Deletion (frameshift variant)	Childhood hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 623122	NM_000478.6(ALPL):c.1142A>G (p.His381Arg)	ALPL (H381R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely 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 591818	NM_000478.6(ALPL):c.610A>G (p.Ile204Val)	ALPL (I204V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 585385	NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu)	ALPL (S502L +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +4 more	GConflicting classifications of pathogenicity
Select item 558709	NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs)	ALPL (L372fs +2 more)	Microsatellite (frameshift variant)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
Select item 558600	NM_000478.6(ALPL):c.225_228dup (p.Leu77fs)	ALPL (L77fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558598	NM_000478.6(ALPL):c.1375G>T (p.Val459Leu)	ALPL (V459L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 558430	NM_000478.6(ALPL):c.392del (p.Ser131fs)	ALPL (S131fs +2 more)	Deletion (frameshift variant)	Infantile 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)	Infantile hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 558036	NM_000478.6(ALPL):c.497C>T (p.Thr166Ile)	ALPL (T166I +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia	GUncertain significance
Select item 557864	NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del)	ALPL (I55del +2 more)	Microsatellite (inframe_deletion +1 more)	Infantile hypophosphatasia +3 more	GUncertain significance
Select item 557058	NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)	ALPL (Y441fs +2 more)	Deletion (frameshift variant)	not provided +2 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 556895	NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)	ALPL (A487V +2 more)	Single nucleotide variant (missense variant)	not provided +3 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)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 3