ClinVar for MedGen (Select 766913) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065043	NM_003630.3(PEX3):c.74G>T (p.Gly25Val)	PEX3 (G25V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely pathogenic
Select item 2627431	NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)	PEX3 (Y48*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely pathogenic
Select item 1065621	NM_003630.3(PEX3):c.844A>C (p.Thr282Pro)	PEX3 (T282P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely pathogenic
Select item 1029734	NM_003630.3(PEX3):c.1048A>C (p.Thr350Pro)	PEX3 (T350P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 973435	NM_003630.3(PEX3):c.292_302del (p.Ser98fs)	PEX3 (S98fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 10A (Zellweger) +1 more	GPathogenic
Select item 907774	NM_003630.3(PEX3):c.*205C>A	PEX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 907773	NM_003630.3(PEX3):c.810G>A (p.Met270Ile)	PEX3 (M270I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger) +1 more	GUncertain significance
Select item 906833	NM_003630.3(PEX3):c.*1226A>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 906832	NM_003630.3(PEX3):c.*985T>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 906831	NM_003630.3(PEX3):c.*978C>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 906789	NM_003630.3(PEX3):c.472C>G (p.Pro158Ala)	PEX3 (P158A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 906788	NM_003630.3(PEX3):c.332G>T (p.Ser111Ile)	PEX3 (S111I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 906787	NM_003630.3(PEX3):c.332-9T>A	PEX3	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 10A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 905241	NM_003630.3(PEX3):c.*822A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 905240	NM_003630.3(PEX3):c.*742A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 905239	NM_003630.3(PEX3):c.*708A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 905185	NM_003630.3(PEX3):c.-96G>T	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 905184	NM_003630.3(PEX3):c.-186C>T	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 904447	NM_003630.3(PEX3):c.*377C>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 904446	NM_003630.3(PEX3):c.*321A>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 904445	NM_003630.3(PEX3):c.*287A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 904392	NM_003630.3(PEX3):c.-231G>C	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 843621	NM_003630.3(PEX3):c.915C>A (p.Asp305Glu)	PEX3 (D305E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 839350	NM_003630.3(PEX3):c.798A>T (p.Glu266Asp)	PEX3 (E266D)	Single nucleotide variant (missense variant)	PEX3-related condition +3 more	GUncertain significance
Select item 631556	NM_003630.3(PEX3):c.942-8T>G	PEX3	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GPathogenic
Select item 501431	NM_003630.3(PEX3):c.899G>A (p.Arg300Gln)	PEX3 (R300Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 355594	NM_003630.3(PEX3):c.*1335A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely benign
Select item 355593	NM_003630.3(PEX3):c.*1332A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355592	NM_003630.3(PEX3):c.*1305C>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355591	NM_003630.3(PEX3):c.*1074A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355590	NM_003630.3(PEX3):c.*958T>C	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355589	NM_003630.3(PEX3):c.*895G>A	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely benign
Select item 355588	NM_003630.3(PEX3):c.*793T>C	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355587	NM_003630.3(PEX3):c.*677C>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355586	NM_003630.3(PEX3):c.*573A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355585	NM_003630.3(PEX3):c.*546A>G	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GBenign
Select item 355584	NM_003630.3(PEX3):c.*424T>C	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355583	NM_003630.3(PEX3):c.*391G>A	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GLikely benign
Select item 355582	NM_003630.3(PEX3):c.*319A>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GBenign
Select item 355579	NM_003630.3(PEX3):c.*220G>A	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 355578	NM_003630.3(PEX3):c.*129C>T	PEX3	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355577	NM_003630.3(PEX3):c.887C>T (p.Ala296Val)	PEX3 (A296V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355576	NM_003630.3(PEX3):c.249A>G (p.Gln83=)	PEX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 355575	NM_003630.3(PEX3):c.245A>G (p.Gln82Arg)	PEX3 (Q82R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10A (Zellweger) +1 more	GBenign
Select item 355574	NM_003630.3(PEX3):c.96T>C (p.Tyr32=)	PEX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 355573	NM_003630.3(PEX3):c.51C>T (p.Ile17=)	PEX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 355571	NM_003630.3(PEX3):c.-175G>C	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 355569	NM_003630.3(PEX3):c.-197T>C	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GBenign
Select item 355568	NM_003630.3(PEX3):c.-214G>C	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GUncertain significance
Select item 291279	NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)	PEX3 (P158R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289544	NM_003630.3(PEX3):c.578+8A>G	PEX3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259108	NM_003630.3(PEX3):c.942-13A>G	PEX3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 259107	NM_003630.3(PEX3):c.524-19T>C	PEX3	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 10A (Zellweger) +3 more	GBenign
Select item 259105	NM_003630.3(PEX3):c.206-14del	PEX3	Deletion (intron variant)	not provided +3 more	GBenign
Select item 259104	NM_003630.3(PEX3):c.-4A>G	PEX3	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 195197	NM_003630.3(PEX3):c.165A>G (p.Gln55=)	PEX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6618	NM_003630.3(PEX3):c.543dup (p.Val182fs)	PEX3 (V182fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GPathogenic

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Links from MedGen

Items: 57