C4225267[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677692	NM_000287.4(PEX6):c.2807-2A>G	PEX6	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 2	GPathogenic
Select item 556094	NM_000287.4(PEX6):c.2806+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 2677691	NM_000287.4(PEX6):c.2780_2783delinsTGACCAGGT (p.Lys927fs)	PEX6 (K839fs +1 more)	Indel (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 845895	NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)	PEX6 (A824V +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 2677694	NM_000287.4(PEX6):c.2684dup (p.Val896fs)	PEX6 (V808fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 1066810	NM_000287.4(PEX6):c.2666+1G>T	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +1 more	GLikely pathogenic
Select item 2677712	NM_000287.4(PEX6):c.2661_2662dup (p.Arg888fs)	PEX6 (R800fs +1 more)	Microsatellite (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 931051	NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)	PEX6 (R888P +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 551183	NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)	PEX6 (R876W +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 984940	NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)	PEX6 (R772Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GLikely pathogenic
Select item 2677717	NM_000287.4(PEX6):c.2553_2560dup (p.Leu854fs)	PEX6 (L766fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 553359	NM_000287.4(PEX6):c.2439dup (p.Arg814fs)	PEX6 (R726fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 194165	NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	PEX6 (R814* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +4 more	GPathogenic
Select item 653703	NM_000287.4(PEX6):c.2439del (p.Arg814fs)	PEX6 (R726fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 555170	NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)	PEX6 (R812Q +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 2677718	NM_000287.4(PEX6):c.2429del (p.Pro810fs)	PEX6 (P722fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2677711	NM_000287.4(PEX6):c.2422_2423del (p.Leu808fs)	PEX6 (L720fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2677723	NM_000287.4(PEX6):c.2414_2417dup (p.Ser807fs)	PEX6 (S719fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 598162	NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)	PEX6 (I712fs +1 more)	Indel (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 545100	NM_000287.4(PEX6):c.2406del (p.Phe802fs)	PEX6 (F714fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 632941	NM_000287.4(PEX6):c.2364_2365del	PEX6	Microsatellite (splice acceptor variant)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 2009257	NM_000287.4(PEX6):c.2363-2A>G	PEX6	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder +1 more	GLikely pathogenic
Select item 945188	NM_000287.4(PEX6):c.2363-2A>C	PEX6	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 551145	NM_000287.4(PEX6):c.2362+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Heimler syndrome 2 +3 more	GLikely pathogenic
Select item 556244	NM_000287.4(PEX6):c.2362G>A (p.Val788Met)	PEX6 (V788M +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 2089462	NM_000287.4(PEX6):c.2315del (p.Glu772fs)	PEX6 (E772fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 804456	NM_000287.4(PEX6):c.2300+2T>C	PEX6	Single nucleotide variant (splice donor variant)	Heimler syndrome 2	GLikely pathogenic
Select item 2677693	NM_000287.4(PEX6):c.2237del (p.Pro746fs)	PEX6 (P658fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 2	GLikely pathogenic
Select item 3240096	NM_000287.4(PEX6):c.2204_2205delinsC (p.Leu735fs)	PEX6 (L647fs +1 more)	Indel (frameshift variant)	Heimler syndrome 2	GLikely pathogenic
Select item 3240093	NM_000287.4(PEX6):c.2164C>T (p.Gln722Ter)	PEX6 (Q634* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 2	GLikely pathogenic
Select item 286981	NM_000287.4(PEX6):c.2095-21_2095-10del	PEX6	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667387	NM_000287.4(PEX6):c.2094+1G>A	PEX6	Single nucleotide variant (non-coding transcript variant +1 more)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 1031507	NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser)	PEX6 (P609S +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +1 more	GUncertain significance
Select item 553235	NM_000287.4(PEX6):c.2082del (p.Gly695fs)	PEX6 (G607fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 643229	NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)	PEX6 (Q692* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2677705	NM_000287.4(PEX6):c.2050G>T (p.Glu684Ter)	PEX6 (E596* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2677713	NM_000287.4(PEX6):c.2041C>T (p.Gln681Ter)	PEX6 (Q593* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2035104	NM_000287.4(PEX6):c.2010del (p.Gly671fs)	PEX6 (G583fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 972112	NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)	PEX6 (E664D +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 550358	NM_000287.4(PEX6):c.1962-1G>A	PEX6	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 495796	NM_000287.4(PEX6):c.1947del (p.Ile650fs)	PEX6 (I562fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 576022	NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)	PEX6 (C647* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 2677706	NM_000287.4(PEX6):c.1933dup (p.Ala645fs)	PEX6 (A557fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 1363836	NM_000287.4(PEX6):c.1891del (p.Val631fs)	PEX6 (V543fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +1 more	GPathogenic
Select item 2677721	NM_000287.4(PEX6):c.1881T>A (p.Cys627Ter)	PEX6 (C539* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 217426	NM_000287.4(PEX6):c.1841del (p.Leu614fs)	PEX6 (L526fs +1 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 2677701	NM_000287.4(PEX6):c.1824del (p.Thr609fs)	PEX6 (T521fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 198709	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	PEX6 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +7 more	GConflicting classifications of pathogenicity
Select item 632484	NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	PEX6 (R601W +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 2677719	NM_000287.4(PEX6):c.1797del (p.Gln600fs)	PEX6 (Q512fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 1362435	NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter)	PEX6 (E504* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 500941	NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)	PEX6 (A586V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1028671	NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln)	PEX6 (R487Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 224323	NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)	PEX6 (T572I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 1071121	NM_000287.4(PEX6):c.1691del (p.Cys564fs)	PEX6 (C476fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 8123	NM_000287.4(PEX6):c.1688+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +1 more	GPathogenic
Select item 1421817	NM_000287.4(PEX6):c.1522del (p.Glu508fs)	PEX6 (E508fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 2677710	NM_000287.4(PEX6):c.1500_1501del (p.Ala501fs)	PEX6 (A413fs +1 more)	Microsatellite (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 3240097	NM_000287.4(PEX6):c.1480-1G>A	PEX6	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 2	GLikely pathogenic
Select item 2677720	NM_000287.4(PEX6):c.1452T>A (p.Cys484Ter)	PEX6 (C396* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2136392	NM_000287.4(PEX6):c.1415dup (p.Gly473fs)	PEX6 (G473fs +1 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic
Select item 1369876	NM_000287.4(PEX6):c.1415del (p.Pro472fs)	PEX6 (P384fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 2677714	NM_000287.4(PEX6):c.1373_1380del (p.Ala458fs)	PEX6 (A370fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2677699	NM_000287.4(PEX6):c.1369_1370dup	PEX6	Duplication	Heimler syndrome 2	GLikely pathogenic
Select item 2677707	NM_000287.4(PEX6):c.1367+1G>T	PEX6	Single nucleotide variant (splice donor variant)	Heimler syndrome 2	GLikely pathogenic
Select item 92779	NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)	PEX6 (A359fs +1 more)	Microsatellite (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1324885	NM_000287.4(PEX6):c.1326dup (p.Ser443fs)	PEX6 (S355fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 224321	NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)	PEX6 (E439fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GPathogenic
Select item 579632	NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)	PEX6 (G437D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446026	NM_000287.4(PEX6):c.1287del (p.Trp430fs)	PEX6 (W430fs +1 more)	Deletion (frameshift variant +1 more)	PEX6-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2677715	NM_000287.4(PEX6):c.1238del (p.Gly413fs)	PEX6 (G325fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2677695	NM_000287.4(PEX6):c.1233+2T>C	PEX6	Single nucleotide variant (splice donor variant)	Heimler syndrome 2	GLikely pathogenic
Select item 495794	NM_000287.4(PEX6):c.1233+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 290377	NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)	PEX6 (L401* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 2677704	NM_000287.4(PEX6):c.1200C>G (p.Tyr400Ter)	PEX6 (Y312* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 1724632	NM_000287.4(PEX6):c.1094del (p.Val365fs)	PEX6 (V277fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 1415829	NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)	PEX6 (I362fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 2677709	NM_000287.4(PEX6):c.1046+1del	PEX6	Deletion (splice donor variant)	Heimler syndrome 2	GLikely pathogenic
Select item 2677708	NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)	PEX6 (Q258* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 1069607	NM_000287.4(PEX6):c.1027del (p.Arg343fs)	PEX6 (R255fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +2 more	GPathogenic/Likely pathogenic
Select item 2086893	NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)	PEX6 (Y331* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2133321	NM_000287.4(PEX6):c.959_960del (p.Glu320fs)	PEX6 (E320fs +1 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 2677722	NM_000287.4(PEX6):c.921_927delinsTCT (p.Ser308fs)	PEX6 (S220fs +1 more)	Indel (frameshift variant +1 more)	Heimler syndrome 2	GPathogenic
Select item 1429796	NM_000287.4(PEX6):c.916_919del (p.Lys306fs)	PEX6 (K218fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 3240099	NM_000287.4(PEX6):c.882+1G>T	PEX6	Single nucleotide variant (intron variant +1 more)	Heimler syndrome 2	GLikely pathogenic
Select item 973865	NM_000287.4(PEX6):c.882+1G>A	PEX6	Single nucleotide variant (intron variant +1 more)	Peroxisome biogenesis disorder +2 more	GPathogenic
Select item 2677716	NM_000287.4(PEX6):c.837dup (p.Asn280Ter)	PEX6 (N280*)	Duplication (nonsense +2 more)	Heimler syndrome 2	GLikely pathogenic
Select item 2677702	NM_000287.4(PEX6):c.830T>A (p.Leu277Ter)	PEX6 (L277*)	Single nucleotide variant (nonsense +2 more)	Heimler syndrome 2	GLikely pathogenic
Select item 217424	NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	PEX6 (P274L)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +5 more	GPathogenic/Likely pathogenic
Select item 555443	NM_000287.4(PEX6):c.802_815del (p.Asp268fs)	PEX6 (D268fs)	Deletion (frameshift variant +2 more)	Heimler syndrome 2 +3 more	GPathogenic
Select item 1073936	NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)	PEX6 (W249*)	Single nucleotide variant (nonsense +2 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1451675	NM_000287.4(PEX6):c.689_690del (p.Glu230fs)	PEX6 (E230fs)	Microsatellite (frameshift variant +2 more)	Peroxisome biogenesis disorder +1 more	GPathogenic
Select item 2094631	NM_000287.4(PEX6):c.668dup (p.Trp224fs)	PEX6 (W224fs)	Duplication (frameshift variant +2 more)	Heimler syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 191209	NM_000287.4(PEX6):c.661G>T (p.Glu221Ter)	PEX6 (E221*)	Single nucleotide variant (nonsense +2 more)	Heimler syndrome 2 +1 more	GLikely pathogenic
Select item 545099	NM_000287.4(PEX6):c.659G>T (p.Gly220Val)	PEX6 (G220V)	Single nucleotide variant (missense variant +2 more)	Heimler syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 2734863	NM_000287.4(PEX6):c.530del (p.Pro177fs)	PEX6 (P177fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic
Select item 557701	NM_000287.4(PEX6):c.517del (p.Ser173fs)	PEX6 (S173fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +3 more	GPathogenic
Select item 2015425	NM_000287.4(PEX6):c.514del (p.Asp172fs)	PEX6 (D172fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +1 more	GPathogenic/Likely pathogenic
Select item 554303	NM_000287.4(PEX6):c.506_507del (p.Glu169fs)	PEX6 (E169fs)	Microsatellite (frameshift variant +1 more)	Heimler syndrome 2 +3 more	GPathogenic/Likely pathogenic

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