"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 560360	NM_000478.6(ALPL):c.472+5G>C	ALPL	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 427764	NM_000478.6(ALPL):c.530C>T (p.Ala177Val)	ALPL (A177V +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GConflicting classifications of pathogenicity
Select item 427761	NM_000478.6(ALPL):c.793-10T>C	ALPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 446464	NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del)	ALPL	Indel (inframe_deletion)	Adult hypophosphatasia +1 more	GConflicting classifications of pathogenicity
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 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 446468	NM_000478.6(ALPL):c.1309+13G>A	ALPL	Single nucleotide variant (intron variant)	Low alkaline phosphatase	GUncertain significance
Select item 427766	NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)	ALPL (A468V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 291309	NM_000478.6(ALPL):c.1454C>T (p.Ala485Val)	ALPL (A485V +2 more)	Single nucleotide variant (missense variant)	not specified	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 446465	NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs)	ALPL (L520fs +2 more)	Deletion (frameshift variant)	Infantile hypophosphatasia	GLikely pathogenic
Select item 446466	NM_000478.6(ALPL):c.*7A>G	ALPL	Single nucleotide variant (3 prime UTR variant)	Low alkaline phosphatase	GUncertain significance