C3553936[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 556990	NM_000287.4(PEX6):c.2764_2765del (p.Met922fs)	PEX6 (M922fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 255740	NM_000287.4(PEX6):c.2730G>A (p.Thr910=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +3 more	GLikely benign
Select item 551147	NM_000287.4(PEX6):c.2692del (p.Leu898fs)	PEX6 (L898fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
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 551909	NM_000287.4(PEX6):c.2472-2A>G	PEX6	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	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 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 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 552309	NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)	PEX6 (L742P +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +3 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 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 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 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 557926	NM_000287.4(PEX6):c.1479+2del	PEX6	Deletion (splice donor variant)	Peroxisome biogenesis disorder +2 more	GLikely pathogenic
Select item 558266	NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)	PEX6 (A483del +1 more)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 553545	NM_000287.4(PEX6):c.1368-2del	PEX6	Deletion (splice acceptor variant)	Peroxisome biogenesis disorder +2 more	GLikely 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 556748	NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)	PEX6 (G413V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 557825	NM_000287.4(PEX6):c.1234-1G>T	PEX6	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GLikely pathogenic
Select item 551451	NM_000287.4(PEX6):c.1130+2T>C	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 553942	NM_000287.4(PEX6):c.1046+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	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 356803	NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)	PEX6 (A240T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GUncertain significance
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 224318	NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)	PEX6 (F218L)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 552800	NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del)	PEX6 (S184del)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 552092	NM_000287.4(PEX6):c.541GTG[1] (p.Val182del)	PEX6 (V182del)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
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 551023	NM_000287.4(PEX6):c.510dup (p.Gly171fs)	PEX6 (G171fs)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 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
Select item 550215	NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)	PEX6 (R163P)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 551682	NM_000287.4(PEX6):c.462del (p.Leu155fs)	PEX6 (L155fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 557579	NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)	PEX6 (P136fs)	Indel (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 555544	NM_000287.4(PEX6):c.385_388del (p.Glu129fs)	PEX6 (E129fs)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 499109	NM_000287.4(PEX6):c.311del (p.Gly104fs)	PEX6 (G104fs)	Deletion (frameshift variant +1 more)	Heimler syndrome 2 +4 more	GPathogenic/Likely pathogenic
Select item 356806	NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)	PEX6 (R99W)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GUncertain significance
Select item 552327	NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)	PEX6	Duplication (inframe_insertion +1 more)	Heimler syndrome 2 +3 more	GUncertain significance
Select item 553033	NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)	PEX6	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +2 more	GUncertain significance
Select item 553026	NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del)	PEX6	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 550688	NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup)	PEX6	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GUncertain significance
Select item 553970	NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)	PEX6 (E45*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 556911	NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)	PEX6 (E15fs)	Duplication (frameshift variant +1 more)	Heimler syndrome 2 +2 more	GLikely pathogenic
Select item 557609	NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)	PEX6 (F12S)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GConflicting classifications of pathogenicity
Select item 555083	NM_000287.4(PEX6):c.2T>G (p.Met1Arg)	PEX6 (M1R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic

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Items: 50