C0268412[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 993673	NM_000478.6(ALPL):c.182-15C>G	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 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 1339258	NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)	ALPL (E28* +1 more)	Single nucleotide variant (nonsense +1 more)	ALPL-related disorder +4 more	GPathogenic/Likely pathogenic
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 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 795743	NM_000478.6(ALPL):c.297+9C>A	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GLikely benign
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 1142227	NM_000478.6(ALPL):c.339C>T (p.Thr113=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1113340	NM_000478.6(ALPL):c.393C>T (p.Ser131=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
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 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 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 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 197679	NM_000478.6(ALPL):c.455G>A (p.Arg152His)	ALPL (R152H +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 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 1190598	NM_000478.6(ALPL):c.473-12C>T	ALPL	Single nucleotide variant (intron variant)	Childhood hypophosphatasia +3 more	GBenign/Likely benign
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 755336	NM_000478.6(ALPL):c.528C>T (p.Ala176=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
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 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 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 1115861	NM_000478.6(ALPL):c.582T>C (p.Pro194=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
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 1473817	NM_000478.6(ALPL):c.649-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	Adult hypophosphatasia +3 more	GLikely pathogenic
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 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 287114	NM_000478.6(ALPL):c.673T>C (p.Tyr225His)	ALPL (Y225H +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 286903	NM_000478.6(ALPL):c.734C>T (p.Thr245Met)	ALPL (T245M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 388169	NM_000478.6(ALPL):c.782C>T (p.Pro261Leu)	ALPL (P261L +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GUncertain significance
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 738556	NM_000478.6(ALPL):c.859T>C (p.Leu287=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1330459	NM_000478.6(ALPL):c.863-15T>C	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 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 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 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 1144823	NM_000478.6(ALPL):c.918C>T (p.Asp306=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 13673	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL (F327L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13672	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL (G334D +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 554623	NM_000478.6(ALPL):c.1017dup (p.His340fs)	ALPL (H340fs +2 more)	Duplication (frameshift variant)	Adult hypophosphatasia +3 more	GPathogenic/Likely pathogenic
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 1116252	NM_000478.6(ALPL):c.1056G>A (p.Ala352=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
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 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 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 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 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 13671	NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)	ALPL (D378V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +4 more	GPathogenic
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 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 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 552330	NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)	ALPL (S317fs +2 more)	Microsatellite (frameshift variant)	Hypophosphatasia +3 more	GLikely 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 1609388	NM_000478.6(ALPL):c.1189+11C>T	ALPL	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 295550	NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp)	ALPL (G425D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +4 more	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 1137474	NM_000478.6(ALPL):c.1310-5C>T	ALPL	Single nucleotide variant (intron variant)	Adult hypophosphatasia +3 more	GLikely benign
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 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 765923	NM_000478.6(ALPL):c.1419C>T (p.Gly473=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 844755	NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)	ALPL (E421K +2 more)	Single nucleotide variant (missense variant)	ALPL-related disorder +4 more	GPathogenic/Likely pathogenic
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 721264	NM_000478.6(ALPL):c.1437C>T (p.Tyr479=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +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 1145196	NM_000478.6(ALPL):c.1455G>A (p.Ala485=)	ALPL	Single nucleotide variant (synonymous variant)	Adult hypophosphatasia +3 more	GLikely benign
Select item 551446	NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)	ALPL (G491R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GPathogenic/Likely pathogenic
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 585385	NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu)	ALPL (S502L +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +4 more	GConflicting classifications of pathogenicity
Select item 554421	NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr)	ALPL (A514T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GUncertain significance

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Items: 82