C3553948[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556763	NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 552841	NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)	PEX10	Single nucleotide variant (stop lost +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 296272	NM_002617.4(PEX10):c.977G>A (p.Arg326His)	PEX10 (R346H +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 556838	NM_002617.4(PEX10):c.952_954del (p.Lys318del)	PEX10 (K338del +4 more)	Deletion (inframe_deletion +1 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 162433	NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)	PEX10 (R331Q +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GConflicting classifications of pathogenicity
Select item 555812	NM_002617.4(PEX10):c.913-2A>C	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 557020	NM_002617.4(PEX10):c.912+1G>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 554342	NM_002617.4(PEX10):c.912+1G>C	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 551349	NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)	PEX10 (C313del +4 more)	Microsatellite (inframe_deletion +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 552930	NM_002617.4(PEX10):c.868C>G (p.His290Asp)	PEX10 (H310D +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 558664	NM_002617.4(PEX10):c.855_857dup (p.Thr286dup)	PEX10	Duplication (inframe_insertion +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GUncertain significance
Select item 162432	NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)	PEX10 (L297P +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GConflicting classifications of pathogenicity
Select item 558445	NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)	PEX10 (C296F +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
Select item 555297	NM_002617.4(PEX10):c.815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 296273	NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +4 more	GPathogenic
Select item 553074	NM_002617.4(PEX10):c.795_796del (p.Arg265fs)	PEX10 (R265fs +4 more)	Microsatellite (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GPathogenic/Likely pathogenic
Select item 553702	NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)	PEX10 (E284* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 555007	NM_002617.4(PEX10):c.776+2T>C	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 553321	NM_002617.4(PEX10):c.776+2T>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 554630	NM_002617.4(PEX10):c.761del (p.Gly254fs)	PEX10 (G274fs +4 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 296275	NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)	PEX10 (G274S +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GUncertain significance
Select item 550383	NM_002617.4(PEX10):c.755_756del (p.His252fs)	PEX10 (H252fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 162435	NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)	PEX10 (R264* +4 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GPathogenic
Select item 296276	NM_002617.4(PEX10):c.711C>T (p.Tyr237=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 6774	NM_002617.4(PEX10):c.704dup (p.Leu236fs)	PEX10 (L236fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GPathogenic
Select item 557464	NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)	PEX10	Deletion (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 551969	NM_002617.4(PEX10):c.601-24_601-23del	PEX10 (S213fs +2 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 550051	NM_002617.4(PEX10):c.601-26_601-25delinsCTC	PEX10 (M212fs +2 more)	Indel (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 556606	NM_002617.4(PEX10):c.601-38_601-37del	PEX10 (L208fs +2 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 553280	NM_002617.4(PEX10):c.600+1del	PEX10	Deletion (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 6770	NM_002617.4(PEX10):c.600+1G>A	PEX10	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GPathogenic
Select item 6772	NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)	PEX10 (R125*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 371748	NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)	PEX10 (Q118*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GPathogenic/Likely pathogenic
Select item 296283	NM_002617.4(PEX10):c.275G>A (p.Arg92His)	PEX10 (R92H)	Single nucleotide variant (non-coding transcript variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GUncertain significance
Select item 555942	NM_002617.4(PEX10):c.233A>G (p.Gln78Arg)	PEX10 (Q78R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 557602	NM_002617.4(PEX10):c.211G>A (p.Glu71Lys)	PEX10 (E71K)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6B +1 more	GUncertain significance
Select item 553007	NM_002617.4(PEX10):c.113-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GLikely pathogenic
Select item 555863	NM_002617.4(PEX10):c.26del (p.Pro9fs)	PEX10 (P9fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 554655	NM_002617.4(PEX10):c.20del (p.Ser7fs)	PEX10 (S7fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 449304	NM_002617.4(PEX10):c.4del (p.Ala2fs)	PEX10 (A2fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder +4 more	GPathogenic
Select item 162434	NM_002617.4(PEX10):c.2T>C (p.Met1Thr)	PEX10 (M1T)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GPathogenic
Select item 280002	NM_002617.4(PEX10):c.1A>G (p.Met1Val)	PEX10 (M1V)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic/Likely pathogenic

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Items: 42