C0020630[trait identifier] AND "JKU Lab, Dept of Paediatrics, Johannes - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334788	NM_000478.6(ALPL):c.41T>C (p.Leu14Pro)	ALPL (L14P)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 1344543	NM_000478.6(ALPL):c.62-29G>A	ALPL	Single nucleotide variant (intron variant)	Hypophosphatasia	GLikely benign
Select item 1334790	NM_000478.6(ALPL):c.69_74del	ALPL	Microsatellite (splice acceptor variant)	Hypophosphatasia	GLikely pathogenic
Select item 1334401	NM_000478.6(ALPL):c.106A>C (p.Thr36Pro)	ALPL (T36P)	Single nucleotide variant (missense variant +1 more)	ALPL-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1334791	NM_000478.6(ALPL):c.140A>T (p.Asn47Ile)	ALPL (N47I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 1338725	NM_000478.6(ALPL):c.146A>T (p.Asn49Ile)	ALPL (N49I +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2665005	NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)	ALPL (E21K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 928474	NM_000478.6(ALPL):c.178G>C (p.Asp60His)	ALPL (D5H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1076697	NM_000478.6(ALPL):c.182-2A>G	ALPL	Single nucleotide variant (splice acceptor variant +1 more)	Hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 1334793	NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr)	ALPL (S10Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 1334796	NM_000478.6(ALPL):c.214A>G (p.Ile72Val)	ALPL (I17V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2671814	NM_000478.6(ALPL):c.237_238del (p.His79fs)	ALPL (H24fs +1 more)	Microsatellite (frameshift variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2664863	NM_000478.6(ALPL):c.244G>C (p.Gly82Arg)	ALPL (G27R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2664685	NM_000478.6(ALPL):c.244G>A (p.Gly82Arg)	ALPL (G27R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2671816	NM_000478.6(ALPL):c.286G>C (p.Ala96Pro)	ALPL (A41P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2009190	NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)	ALPL (K44E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2671820	NM_000478.6(ALPL):c.297+5G>A	ALPL	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1679809	NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys)	ALPL (Y101C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197678	NM_000478.6(ALPL):c.330T>C (p.Ser110=)	ALPL	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1334794	NM_000478.6(ALPL):c.361G>A (p.Val121Met)	ALPL (V121M +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3024104	NM_000478.6(ALPL):c.412dup (p.Arg138fs)	ALPL (R138fs +2 more)	Duplication (frameshift variant)	Hypophosphatasia	GPathogenic
Select item 1075198	NM_000478.6(ALPL):c.412del (p.Arg138fs)	ALPL (R138fs +2 more)	Deletion (frameshift variant)	Hypophosphatasia +1 more	GPathogenic
Select item 1697972	NM_000478.6(ALPL):c.433A>G (p.Asn145Asp)	ALPL (N145D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2664471	NM_000478.6(ALPL):c.466G>T (p.Asp156Tyr)	ALPL (D101Y +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 3024106	NM_000478.6(ALPL):c.495CAC[1] (p.Thr167del)	ALPL (T167del +2 more)	Microsatellite (inframe_deletion)	Hypophosphatasia	GUncertain significance
Select item 2665006	NM_000478.6(ALPL):c.511C>G (p.His171Asp)	ALPL (H116D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2664865	NM_000478.6(ALPL):c.527C>T (p.Ala176Val)	ALPL (A121V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 1334798	NM_000478.6(ALPL):c.538C>A (p.His180Asn)	ALPL (H103N +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2672304	NM_000478.6(ALPL):c.539A>G (p.His180Arg)	ALPL (H103R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 521379	NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	ALPL (R184W +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1073912	NM_000478.6(ALPL):c.558G>A (p.Trp186Ter)	ALPL (W109* +2 more)	Single nucleotide variant (nonsense)	Hypophosphatasia +1 more	GPathogenic
Select item 1334795	NM_000478.6(ALPL):c.601T>C (p.Cys201Arg)	ALPL (C124R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 1921627	NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	ALPL (A128T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GUncertain significance
Select item 1334797	NM_000478.6(ALPL):c.625A>T (p.Met209Leu)	ALPL (M132L +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2671819	NM_000478.6(ALPL):c.649_650insC (p.Val217fs)	ALPL (V140fs +2 more)	Insertion (frameshift variant)	Hypophosphatasia	GPathogenic
Select item 1224381	NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	ALPL (M142I +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 2664952	NM_000478.6(ALPL):c.659G>T (p.Gly220Val)	ALPL (G143V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1076161	NM_000478.6(ALPL):c.659G>C (p.Gly220Ala)	ALPL (G143A +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 2671813	NM_000478.6(ALPL):c.675_676insCA (p.Met226fs)	ALPL (M149fs +2 more)	Insertion (frameshift variant)	Hypophosphatasia	GLikely pathogenic
Select item 2666835	NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)	ALPL (Y159C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1683492	NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr)	ALPL (D162Y +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 2671812	NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)	ALPL (W179* +2 more)	Single nucleotide variant (nonsense)	Hypophosphatasia	GPathogenic
Select item 2664876	NM_000478.6(ALPL):c.793-30_793-11del	ALPL	Deletion (intron variant)	Hypophosphatasia	GLikely pathogenic
Select item 2671815	NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)	ALPL (F191L +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 288247	NM_000478.6(ALPL):c.818C>T (p.Thr273Met)	ALPL (T273M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 1679902	NM_000478.6(ALPL):c.889T>A (p.Tyr297Asn)	ALPL (Y220N +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1372024	NM_000478.6(ALPL):c.906C>A (p.Asn302Lys)	ALPL (N225K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1471027	NM_000478.6(ALPL):c.967A>G (p.Asn323Asp)	ALPL (N268D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GLikely pathogenic
Select item 1679927	NM_000478.6(ALPL):c.968A>T (p.Asn323Ile)	ALPL (N246I +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1932270	NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)	ALPL (G257S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 392980	NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)	ALPL (R335T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GLikely pathogenic
Select item 1455036	NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg)	ALPL (G262R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 857510	NM_000478.6(ALPL):c.1034C>T (p.Ala345Val)	ALPL (A290V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1679928	NM_000478.6(ALPL):c.1072G>A (p.Ala358Thr)	ALPL (A281T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 545020	NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del)	ALPL (S368del +2 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 2664937	NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr)	ALPL (D301Y +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2664938	NM_000478.6(ALPL):c.1157G>A (p.Gly386Asp)	ALPL (G309D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 1686657	NM_000478.6(ALPL):c.1190G>T (p.Gly397Val)	ALPL (G320V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2671818	NM_000478.6(ALPL):c.1225C>G (p.Pro409Ala)	ALPL (P332A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2664939	NM_000478.6(ALPL):c.1225C>T (p.Pro409Ser)	ALPL (P332S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1686652	NM_000478.6(ALPL):c.1238T>C (p.Ile413Thr)	ALPL (I336T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1344541	NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp)	ALPL (Y338D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2664936	NM_000478.6(ALPL):c.1247G>T (p.Gly416Val)	ALPL (G339V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 1490545	NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp)	ALPL (G339D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 2665103	NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)	ALPL (G343S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GLikely pathogenic
Select item 2665102	NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)	ALPL (G343D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2576975	NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)	ALPL (G343A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic/Likely pathogenic
Select item 1916167	NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)	ALPL (R373Q +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic/Likely pathogenic
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 3024105	NM_000478.6(ALPL):c.1327G>A (p.Ala443Thr)	ALPL (A388T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2664877	NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly)	ALPL (A366G +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 976385	NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg)	ALPL (Q367R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 1687061	NM_000478.6(ALPL):c.1333T>A (p.Ser445Thr)	ALPL (S368T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 13681	NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg)	ALPL (G456R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1511003	NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu)	ALPL (G379E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1686656	NM_000478.6(ALPL):c.1376T>C (p.Val459Ala)	ALPL (V382A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1338726	NM_000478.6(ALPL):c.1379C>T (p.Ala460Val)	ALPL (A383V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1457578	NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)	ALPL (A391T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic
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 1003872	NM_000478.6(ALPL):c.1415A>G (p.His472Arg)	ALPL (H395R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1344542	NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp)	ALPL (G396D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2664864	NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys)	ALPL (Y402C +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2665004	NM_000478.6(ALPL):c.1444dup (p.His482fs)	ALPL (H405fs +2 more)	Duplication (frameshift variant)	Hypophosphatasia	GLikely pathogenic
Select item 2414237	NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)	ALPL (H405Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1457579	NM_000478.6(ALPL):c.1444C>A (p.His482Asn)	ALPL (H405N +2 more)	Single nucleotide variant (missense variant)	ALPL-related condition +4 more	GConflicting classifications of pathogenicity
Select item 2671817	NM_000478.6(ALPL):c.1487A>G (p.His496Arg)	ALPL (H419R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2671573	NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser)	ALPL (C420S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2671811	NM_000478.6(ALPL):c.1532_1533insC (p.Leu512fs)	ALPL (L435fs +2 more)	Insertion (frameshift variant)	Hypophosphatasia	GPathogenic

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Items: 89