ClinVar for OMIM (Select 614871) - ClinVar

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

Links from OMIM

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370422	NM_002617.4(PEX10):c.194-2A>G	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 3370421	NM_002617.4(PEX10):c.194-1G>A	PEX10	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1804978	NM_002617.4(PEX10):c.637dup (p.Ala213fs)	PEX10 (A213fs +4 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B	GPathogenic
Select item 1725819	NM_002617.4(PEX10):c.522_523del (p.Gln175fs)	PEX10 (Q175fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 1724832	NM_002617.4(PEX10):c.445_452del (p.Thr149fs)	PEX10 (T149fs +1 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6B +1 more	GLikely pathogenic
Select item 1724319	NM_002617.4(PEX10):c.618del (p.Gly208fs)	PEX10 (G208fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1724150	NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)	PEX10 (W45*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1724122	NM_002617.4(PEX10):c.222_223del (p.Ser75fs)	PEX10 (S75fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
Select item 1723948	NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)	PEX10 (W181* +1 more)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 1373599	NM_002617.4(PEX10):c.485G>A (p.Arg162Gln)	PEX10 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +4 more	GUncertain significance
Select item 1180486	NM_002617.4(PEX10):c.776+33G>T	PEX10	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 964978	NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)	PEX10 (R261Q +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GUncertain significance
Select item 955602	NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)	PEX10 (L113P)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +2 more	GUncertain significance
Select item 870567	NM_002617.4(PEX10):c.98T>G (p.Leu33Arg)	PEX10 (L33R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6B	GUncertain significance
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 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 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 557464	NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)	PEX10	Deletion (nonsense +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GPathogenic/Likely pathogenic
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 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 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 556606	NM_002617.4(PEX10):c.601-38_601-37del	PEX10 (L208fs +2 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GPathogenic/Likely pathogenic
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 555863	NM_002617.4(PEX10):c.26del (p.Pro9fs)	PEX10 (P9fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GPathogenic/Likely pathogenic
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 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 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 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 554630	NM_002617.4(PEX10):c.761del (p.Gly254fs)	PEX10 (G274fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GPathogenic/Likely pathogenic
Select item 554342	NM_002617.4(PEX10):c.912+1G>C	PEX10	Single nucleotide variant (splice donor variant)	not provided +3 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 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 553280	NM_002617.4(PEX10):c.600+1del	PEX10	Deletion (splice donor variant)	Peroxisome biogenesis disorder 6A (Zellweger) +1 more	GLikely pathogenic
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 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 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 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 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 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 550383	NM_002617.4(PEX10):c.755_756del (p.His252fs)	PEX10 (H252fs +4 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely 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 500751	NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)	PEX10 (R343W +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GUncertain significance
Select item 500567	NM_002617.4(PEX10):c.740A>G (p.Lys247Arg)	PEX10 (K267R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 449304	NM_002617.4(PEX10):c.4del (p.Ala2fs)	PEX10 (A2fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic
Select item 371748	NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)	PEX10 (Q118*)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder +3 more	GPathogenic/Likely pathogenic
Select item 296283	NM_002617.4(PEX10):c.275G>A (p.Arg92His)	PEX10 (R92H)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +4 more	GUncertain significance
Select item 296280	NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)	PEX10 (G140R)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder, complementation group 7 +4 more	GConflicting classifications of pathogenicity
Select item 296276	NM_002617.4(PEX10):c.711C>T (p.Tyr237=)	PEX10	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +2 more	GConflicting classifications of pathogenicity
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, complementation group 7 +2 more	GUncertain significance
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 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 286808	NM_002617.4(PEX10):c.838C>T (p.Arg280Cys)	PEX10 (R300C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 280002	NM_002617.4(PEX10):c.1A>G (p.Met1Val)	PEX10 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 262791	NM_002617.4(PEX10):c.913-4G>A	PEX10	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 197385	NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)	PEX10 (G258R +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GConflicting classifications of pathogenicity
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 6A (Zellweger) +3 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 6A (Zellweger) +3 more	GPathogenic
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 6A (Zellweger) +3 more	GConflicting classifications of pathogenicity
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 6A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 162431	NM_002617.4(PEX10):c.337del (p.Leu113fs)	PEX10 (L113fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger)	GPathogenic
Select item 129884	NM_002617.4(PEX10):c.291A>G (p.Thr97=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 129883	NM_002617.4(PEX10):c.279C>T (p.Gly93=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 6774	NM_002617.4(PEX10):c.704dup (p.Leu236fs)	PEX10 (L236fs +4 more)	Duplication (frameshift variant +1 more)	not provided +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 6771	NM_002617.4(PEX10):c.870C>G (p.His290Gln)	PEX10 (H290Q +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 6B	GPathogenic
Select item 6770	NM_002617.4(PEX10):c.600+1G>A	PEX10	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from OMIM

Items: 66