ClinVar for MedGen (Select 43799) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 306

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363176	NM_000478.6(ALPL):c.164T>A (p.Ile55Asn)	ALPL (I55N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 3336845	NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)	ALPL (S326R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3336844	NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)	ALPL (G341R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3336843	NM_000478.6(ALPL):c.1451T>C (p.Met484Thr)	ALPL (M407T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 3256537	NM_000478.6(ALPL):c.1156G>C (p.Gly386Arg)	ALPL (G309R +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3252075	NM_000478.6(ALPL):c.206C>T (p.Ala69Val)	ALPL (A14V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GUncertain significance
Select item 3252042	NM_000478.6(ALPL):c.955A>T (p.Ile319Phe)	ALPL (I242F +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 3252041	NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro)	ALPL (T328P +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3252040	NM_000478.6(ALPL):c.1327G>T (p.Ala443Ser)	ALPL (A366S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 3235878	NM_000478.6(ALPL):c.319G>A (p.Val107Ile)	ALPL (V107I +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3235122	NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys)	ALPL (Y110C +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 3068880	NC_000001.10:g.(?_21835915)_(21904904_?)del	ALPL	Deletion	Hypophosphatasia	GPathogenic
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 3024106	NM_000478.6(ALPL):c.495CAC[1] (p.Thr167del)	ALPL (T167del +2 more)	Microsatellite (inframe_deletion)	Hypophosphatasia	GLikely benign
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 3024104	NM_000478.6(ALPL):c.412dup (p.Arg138fs)	ALPL (R138fs +2 more)	Duplication (frameshift variant)	Hypophosphatasia	GPathogenic
Select item 3000558	NM_000478.6(ALPL):c.379A>G (p.Thr127Ala)	ALPL (T50A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 2811016	NM_000478.6(ALPL):c.431G>C (p.Gly144Ala)	ALPL (G144A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GUncertain significance
Select item 2775415	NM_000478.6(ALPL):c.1144G>C (p.Val382Leu)	ALPL (V382L +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 2761086	NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)	ALPL (G143E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 2691581	NC_000001.10:g.(21836011_21880470)_(21880636_21887118)del	ALPL	Deletion	Hypophosphatasia	GPathogenic
Select item 2682631	NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)	ALPL (Y110* +2 more)	Single nucleotide variant (nonsense)	Hypophosphatasia	GPathogenic
Select item 2677399	NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)	OCA2 (R136*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism +3 more	GPathogenic
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 2671820	NM_000478.6(ALPL):c.297+5G>A	ALPL	Single nucleotide variant (intron variant)	not provided +1 more	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 2671818	NM_000478.6(ALPL):c.1225C>G (p.Pro409Ala)	ALPL (P332A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
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 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 2671815	NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)	ALPL (F191L +2 more)	Single nucleotide variant (missense variant)	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 2671813	NM_000478.6(ALPL):c.675_676insCA (p.Met226fs)	ALPL (M149fs +2 more)	Insertion (frameshift variant)	Hypophosphatasia	GLikely pathogenic
Select item 2671812	NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)	ALPL (W179* +2 more)	Single nucleotide variant (nonsense)	Hypophosphatasia	GPathogenic
Select item 2671811	NM_000478.6(ALPL):c.1532_1533insC (p.Leu512fs)	ALPL (L435fs +2 more)	Insertion (frameshift variant)	Hypophosphatasia	GPathogenic
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 2666835	NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)	ALPL (Y159C +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic/Likely pathogenic
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 2665006	NM_000478.6(ALPL):c.511C>G (p.His171Asp)	ALPL (H116D +2 more)	Single nucleotide variant (missense variant)	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 2665004	NM_000478.6(ALPL):c.1444dup (p.His482fs)	ALPL (H405fs +2 more)	Duplication (frameshift variant)	Hypophosphatasia	GLikely 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 2664939	NM_000478.6(ALPL):c.1225C>T (p.Pro409Ser)	ALPL (P332S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
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 2664937	NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr)	ALPL (D301Y +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic/Likely 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 2664877	NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly)	ALPL (A366G +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 2664876	NM_000478.6(ALPL):c.793-30_793-11del	ALPL	Deletion (intron 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 2664864	NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys)	ALPL (Y402C +2 more)	Single nucleotide variant (missense variant)	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 2664471	NM_000478.6(ALPL):c.466G>T (p.Asp156Tyr)	ALPL (D101Y +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 2637771	NM_000478.6(ALPL):c.1361del (p.His454fs)	ALPL (H377fs +2 more)	Deletion (frameshift variant)	Hypophosphatasia	GPathogenic
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 2573417	NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)	ALPL (I10T)	Single nucleotide variant (missense variant +1 more)	Hypophosphatasia	GLikely pathogenic
Select item 2573416	NM_000478.6(ALPL):c.152C>T (p.Ala51Val)	ALPL (A51V)	Single nucleotide variant (missense variant +2 more)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 2414237	NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)	ALPL (H405Y +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 2202718	NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)	ALPL (P215S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2202713	NM_000478.6(ALPL):c.512A>G (p.His171Arg)	ALPL (H116R +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 2032693	NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)	ALPL (H340Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1932270	NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)	ALPL (G257S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1921627	NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)	ALPL (A128T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1697972	NM_000478.6(ALPL):c.433A>G (p.Asn145Asp)	ALPL (N145D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
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 1686657	NM_000478.6(ALPL):c.1190G>T (p.Gly397Val)	ALPL (G320V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
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 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 1686652	NM_000478.6(ALPL):c.1238T>C (p.Ile413Thr)	ALPL (I336T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
Select item 1683492	NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr)	ALPL (D162Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1679948	NM_000478.6(ALPL):c.705G>T (p.Glu235Asp)	ALPL (E158D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely 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 1679927	NM_000478.6(ALPL):c.968A>T (p.Asn323Ile)	ALPL (N246I +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance
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 1679809	NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys)	ALPL (Y101C +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 1511003	NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu)	ALPL (G379E +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	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 1489679	NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)	ALPL (A77T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GLikely pathogenic
Select item 1471027	NM_000478.6(ALPL):c.967A>G (p.Asn323Asp)	ALPL (N268D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1458303	NM_000478.6(ALPL):c.1023T>A (p.His341Gln)	ALPL (H264Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1457579	NM_000478.6(ALPL):c.1444C>A (p.His482Asn)	ALPL (H405N +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 1457578	NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)	ALPL (A391T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1457576	NM_000478.6(ALPL):c.1231A>G (p.Thr411Ala)	ALPL (T411A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GPathogenic
Select item 1455042	NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser)	ALPL (G426S +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
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 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 1455023	NM_000478.6(ALPL):c.572A>G (p.Glu191Gly)	ALPL (E136G +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 1435973	NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)	ALPL (L244P +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +2 more	GPathogenic
Select item 1405036	NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)	ALPL (E397K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1402715	NM_000478.6(ALPL):c.884T>C (p.Met295Thr)	ALPL (M240T +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +3 more	GConflicting classifications of pathogenicity
Select item 1372024	NM_000478.6(ALPL):c.906C>A (p.Asn302Lys)	ALPL (N225K +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +1 more	GUncertain significance
Select item 1344543	NM_000478.6(ALPL):c.62-29G>A	ALPL	Single nucleotide variant (intron variant)	Hypophosphatasia	GLikely benign
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 1344541	NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp)	ALPL (Y338D +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GLikely pathogenic
Select item 1339258	NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)	ALPL (E28* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypophosphatasia +4 more	GPathogenic/Likely pathogenic
Select item 1338726	NM_000478.6(ALPL):c.1379C>T (p.Ala460Val)	ALPL (A383V +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia	GUncertain significance

<< First< Prev

Page of 4