"Myriad Genetics, Inc."[submitter] AND "ALPL"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1726895	NM_000478.6(ALPL):c.511del (p.His171fs)	ALPL (H116fs +2 more)	Deletion (frameshift variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1334158	NM_000478.6(ALPL):c.547G>A (p.Asp183Asn)	ALPL (D106N +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GConflicting classifications of pathogenicity
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 13670	NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	ALPL (E191K +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +8 more	GPathogenic/Likely pathogenic
Select item 1724538	NM_000478.6(ALPL):c.581_582del (p.Pro194fs)	ALPL (P117fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely 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 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 1723967	NM_000478.6(ALPL):c.799del (p.His267fs)	ALPL (H190fs +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 13673	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL (F327L +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +5 more	GPathogenic/Likely pathogenic
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 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 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 13674	NM_000478.6(ALPL):c.1559del (p.Leu520fs)	ALPL (L443fs +2 more)	Deletion (frameshift variant)	Hypophosphatasia +3 more	GPathogenic