C0220743[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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

Search results

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13667	NM_000478.6(ALPL):c.98C>T (p.Ala33Val)	ALPL (A33V)	Single nucleotide variant (missense variant +1 more)	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 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 13677	NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)	ALPL (A116T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 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 1473817	NM_000478.6(ALPL):c.649-1G>A	ALPL	Single nucleotide variant (splice acceptor variant)	Adult hypophosphatasia +3 more	GLikely pathogenic
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 13682	NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	ALPL (G249V +2 more)	Single nucleotide variant (missense variant)	ALPL-related disorder +4 more	GPathogenic
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 13684	NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)	ALPL (R272C +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic
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 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 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 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 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 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 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 550626	NM_000478.6(ALPL):c.1172G>A (p.Arg391His)	ALPL (R391H +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 632629	NM_000478.6(ALPL):c.1182dup (p.Ile395fs)	ALPL (I318fs +2 more)	Duplication (frameshift variant)	not provided +3 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 13679	NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)	ALPL (N417S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1030812	NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)	ALPL (A366V +2 more)	Single nucleotide variant (missense variant)	Childhood hypophosphatasia +4 more	GPathogenic/Likely 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 371400	NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)	ALPL (G455S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +4 more	GPathogenic/Likely pathogenic
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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 44