Related gene-specific medical variations for Gene (Select 249) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068278	NM_000478.6(ALPL):c.173T>C (p.Leu58Pro)	ALPL (L3P +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 3064365	NM_000478.6(ALPL):c.293C>T (p.Ser98Phe)	ALPL (S43F +1 more)	Single nucleotide variant (missense variant +1 more)	Adult hypophosphatasia	GUncertain significance
Select item 3028923	NM_000478.5:g.(?_21835231)_(21904741_?)dup	ALPL	Duplication	Adult hypophosphatasia	GUncertain significance
Select item 3024107	NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)	ALPL (E214Q +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
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 2676694	NM_000478.6(ALPL):c.298-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	Adult hypophosphatasia	GPathogenic
Select item 2676678	NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)	ALPL (A322V +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia	GLikely pathogenic
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 2676602	NM_000478.6(ALPL):c.573_574del (p.Glu191fs)	ALPL (E114fs +2 more)	Microsatellite (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676595	NM_000478.6(ALPL):c.1372del (p.Asp458fs)	ALPL (D381fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia	GLikely pathogenic
Select item 2676591	NM_000478.6(ALPL):c.648+1G>T	ALPL	Single nucleotide variant (splice donor variant)	Adult hypophosphatasia	GPathogenic
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 2676576	NM_000478.6(ALPL):c.1499_1500delinsG (p.Ala500fs)	ALPL (A423fs +2 more)	Indel (frameshift variant)	Adult hypophosphatasia	GLikely 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 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 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 2582753	NM_000478.6(ALPL):c.877_882del (p.Gly293_Asp294del)	ALPL	Deletion (inframe_deletion)	Adult hypophosphatasia	GLikely pathogenic
Select item 2439006	NM_000478.6(ALPL):c.1082A>G (p.Gln361Arg)	ALPL (Q284R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 991463	NM_000478.6(ALPL):c.1574G>A (p.Ter525=)	ALPL	Single nucleotide variant (synonymous variant)	Hypophosphatasia	GUncertain significance
Select item 991461	NM_000478.6(ALPL):c.1280A>C (p.Glu427Ala)	ALPL (E350A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 991458	NM_000478.6(ALPL):c.237C>T (p.His79=)	ALPL	Single nucleotide variant (synonymous variant +1 more)	Hypophosphatasia	GUncertain significance
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 931472	NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)	ALPL (E114* +2 more)	Single nucleotide variant (nonsense)	Adult hypophosphatasia	GPathogenic
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 637015	NM_000478.6(ALPL):c.1462G>A (p.Ala488Thr)	ALPL (A488T +2 more)	Single nucleotide variant (missense variant)	Low alkaline phosphatase	GUncertain significance
Select item 591715	NM_000478.6(ALPL):c.810G>A (p.Trp270Ter)	ALPL (W270* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591537	NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly)	ALPL (D458G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591366	NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly)	ALPL (D458G +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 560361	NM_000478.6(ALPL):c.1451T>G (p.Met484Arg)	ALPL (M484R +2 more)	Single nucleotide variant (missense variant)	Low alkaline phosphatase	GLikely pathogenic
Select item 446468	NM_000478.6(ALPL):c.1309+13G>A	ALPL	Single nucleotide variant (intron variant)	Low alkaline phosphatase	GUncertain significance
Select item 446467	NM_000478.6(ALPL):c.1207A>T (p.Ser403Cys)	ALPL (S403C +2 more)	Single nucleotide variant (missense variant)	Low alkaline phosphatase	GUncertain significance
Select item 446466	NM_000478.6(ALPL):c.*7A>G	ALPL	Single nucleotide variant (3 prime UTR variant)	Low alkaline phosphatase	GUncertain significance
Select item 445888	NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer)	ALPL	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 256235	NM_000478.6(ALPL):c.863-15T>A	ALPL	Single nucleotide variant (intron variant)	not specified	GLikely benign

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Links from Gene

Items: 36