C3888385[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2934975	NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)	LOC130066940, PEX26	Indel (initiator_codon_variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely pathogenic
Select item 1564703	NM_001127649.3(PEX26):c.12T>C (p.Asp4=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1564704	NM_001127649.3(PEX26):c.15T>C (p.Ser5=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1489424	NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu)	LOC130066940, PEX26 (S6L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2924494	NM_001127649.3(PEX26):c.18G>A (p.Ser6=)	LOC130066940, PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1375426	NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile)	LOC130066940, PEX26 (T7I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2677683	NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)	LOC130066940, PEX26 (R20fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic/Likely pathogenic
Select item 958385	NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe)	LOC130066940, PEX26 (S8F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2921344	NM_001127649.3(PEX26):c.28del (p.Ala10fs)	PEX26 (A10fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2154	NM_001127649.3(PEX26):c.34dup (p.Leu12fs)	PEX26 (L12fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +3 more	GPathogenic
Select item 281576	NM_001127649.3(PEX26):c.29C>T (p.Ala10Val)	PEX26 (A10V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 2941891	NM_001127649.3(PEX26):c.30C>A (p.Ala10=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1674483	NM_001127649.3(PEX26):c.30C>T (p.Ala10=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 597480	NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)	PEX26 (P11L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2087664	NM_001127649.3(PEX26):c.33C>T (p.Pro11=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 594669	NM_001127649.3(PEX26):c.33C>G (p.Pro11=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 1715343	NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)	PEX26 (L12P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1351402	NM_001127649.3(PEX26):c.35T>A (p.Leu12His)	PEX26 (L12H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2950510	NM_001127649.3(PEX26):c.36C>A (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2944471	NM_001127649.3(PEX26):c.36C>G (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1136259	NM_001127649.3(PEX26):c.36C>T (p.Leu12=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2925654	NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)	PEX26 (R13fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 1569936	NM_001127649.3(PEX26):c.39G>A (p.Arg13=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1041651	NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg)	PEX26 (G14R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2415592	NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)	PEX26 (L15F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7B +1 more	GUncertain significance
Select item 2942254	NM_001127649.3(PEX26):c.45C>T (p.Leu15=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1496335	NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu)	PEX26 (G16E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1990243	NM_001127649.3(PEX26):c.48G>A (p.Gly16=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 593165	NM_001127649.3(PEX26):c.48G>T (p.Gly16=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 1367143	NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu)	PEX26 (G17E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1469588	NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser)	PEX26 (P18S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1348321	NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr)	PEX26 (P18T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1518239	NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu)	PEX26 (P18L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1958062	NM_001127649.3(PEX26):c.55C>T (p.Leu19=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1408740	NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro)	PEX26 (L19P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2041000	NM_001127649.3(PEX26):c.57G>A (p.Leu19=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 999563	NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly)	PEX26 (R20G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2201265	NM_001127649.3(PEX26):c.59G>A (p.Arg20His)	PEX26 (R20H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2130246	NM_001127649.3(PEX26):c.63C>T (p.Ser21=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1469828	NM_001127649.3(PEX26):c.66C>T (p.Ser22=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2946575	NM_001127649.3(PEX26):c.69G>A (p.Glu23=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2925655	NM_001127649.3(PEX26):c.73_79del (p.Val25fs)	PEX26 (V25fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 1042116	NM_001127649.3(PEX26):c.71C>T (p.Pro24Leu)	PEX26 (P24L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 594230	NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg)	PEX26 (P24R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 2954198	NM_001127649.3(PEX26):c.72G>A (p.Pro24=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1466795	NM_001127649.3(PEX26):c.74T>G (p.Val25Gly)	PEX26 (V25G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2048808	NM_001127649.3(PEX26):c.75G>A (p.Val25=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1522042	NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu)	PEX26 (R26L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1448707	NM_001127649.3(PEX26):c.77G>A (p.Arg26His)	PEX26 (R26H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 938319	NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro)	PEX26 (R26P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2933260	NM_001127649.3(PEX26):c.78C>G (p.Arg26=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1377238	NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr)	PEX26 (A27T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2944483	NM_001127649.3(PEX26):c.84C>T (p.Val28=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2135469	NM_001127649.3(PEX26):c.84C>G (p.Val28=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1363781	NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln)	PEX26 (P29Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2947542	NM_001127649.3(PEX26):c.87G>C (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2943548	NM_001127649.3(PEX26):c.87G>A (p.Pro29=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2949771	NM_001127649.3(PEX26):c.90C>T (p.Ala30=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2195502	NM_001127649.3(PEX26):c.91C>T (p.Arg31Trp)	PEX26 (R31W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 2948029	NM_001127649.3(PEX26):c.96G>T (p.Ala32=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1372403	NM_001127649.3(PEX26):c.98C>G (p.Pro33Arg)	PEX26 (P33R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 597004	NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)	PEX26 (P33L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1610691	NM_001127649.3(PEX26):c.99G>A (p.Pro33=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 499982	NM_001127649.3(PEX26):c.99G>C (p.Pro33=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 2931027	NM_001127649.3(PEX26):c.102C>G (p.Ala34=)	PEX26	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2169751	NM_001127649.3(PEX26):c.103G>A (p.Val35Met)	PEX26 (V35M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1461796	NM_001127649.3(PEX26):c.105G>A (p.Val35=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7B +1 more	GLikely benign
Select item 1966230	NM_001127649.3(PEX26):c.107A>G (p.Asp36Gly)	PEX26 (D36G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 1499561	NM_001127649.3(PEX26):c.109C>T (p.Leu37Phe)	PEX26 (L37F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7B +1 more	GUncertain significance
Select item 2928763	NM_001127649.3(PEX26):c.111T>G (p.Leu37=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2953405	NM_001127649.3(PEX26):c.112C>T (p.Leu38=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2040379	NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)	PEX26 (E40G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 501510	NM_001127649.3(PEX26):c.119A>C (p.Glu40Ala)	PEX26 (E40A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +3 more	GUncertain significance
Select item 597903	NM_001127649.3(PEX26):c.120G>C (p.Glu40Asp)	PEX26 (E40D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GUncertain significance
Select item 2065411	NM_001127649.3(PEX26):c.121G>A (p.Ala41Thr)	PEX26 (A41T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1511018	NM_001127649.3(PEX26):c.122C>T (p.Ala41Val)	PEX26 (A41V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2944726	NM_001127649.3(PEX26):c.126C>T (p.Ala42=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2185777	NM_001127649.3(PEX26):c.129C>T (p.Asp43=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 857575	NM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del)	PEX26 (L45del)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 195337	NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)	PEX26 (L44F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1618897	NM_001127649.3(PEX26):c.132C>G (p.Leu44=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2950305	NM_001127649.3(PEX26):c.133C>T (p.Leu45=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2157	NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	PEX26 (L45P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 2952454	NM_001127649.3(PEX26):c.141G>C (p.Val47=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1381520	NM_001127649.3(PEX26):c.142C>T (p.His48Tyr)	PEX26 (H48Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2112298	NM_001127649.3(PEX26):c.145C>G (p.Leu49Val)	PEX26 (L49V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1118939	NM_001127649.3(PEX26):c.145C>T (p.Leu49=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1040846	NM_001127649.3(PEX26):c.148G>C (p.Asp50His)	PEX26 (D50H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1629411	NM_001127649.3(PEX26):c.150C>T (p.Asp50=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 1995469	NM_001127649.3(PEX26):c.154del (p.Arg52fs)	PEX26 (R52fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 340750	NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu)	PEX26 (F51L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1047020	NM_001127649.3(PEX26):c.155G>A (p.Arg52Gln)	PEX26 (R52Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 2942255	NM_001127649.3(PEX26):c.162G>T (p.Ala54=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2951013	NM_001127649.3(PEX26):c.163C>T (p.Leu55=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 957524	NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala)	PEX26 (T57A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1717552	NM_001127649.3(PEX26):c.174C>G (p.Cys58Trp)	PEX26 (C58W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 1429838	NM_001127649.3(PEX26):c.174C>T (p.Cys58=)	PEX26	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GLikely benign
Select item 2012898	NM_001127649.3(PEX26):c.175G>A (p.Glu59Lys)	PEX26 (E59K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance
Select item 970602	NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs)	PEX26 (A61fs)	Indel (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 2188133	NM_001127649.3(PEX26):c.179G>A (p.Arg60Gln)	PEX26 (R60Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GUncertain significance

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