ClinVar for MedGen (Select 763187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582386	NM_001351132.2(PEX5):c.147+4A>G	PEX5 (S51G)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2B +2 more	GLikely pathogenic
Select item 1489049	NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)	PEX5 (D621N +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 1471006	NM_001351132.2(PEX5):c.135_147+33delinsC	PEX5	Indel (inframe_deletion +1 more)	Peroxisome biogenesis disorder 2B +2 more	GLikely pathogenic
Select item 1361478	NM_001351132.2(PEX5):c.664A>G (p.Ile222Val)	PEX5 (I222V +1 more)	Single nucleotide variant (missense variant +1 more)	Rhizomelic chondrodysplasia punctata type 5 +2 more	GUncertain significance
Select item 1320046	NM_001351132.2(PEX5):c.177A>C (p.Glu59Asp)	PEX5 (E59D +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 1014978	NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro)	PEX5 (L306P +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 973487	NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)	PEX5 (G448E +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GUncertain significance
Select item 884073	NM_001351132.2(PEX5):c.*628G>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 884072	NM_001351132.2(PEX5):c.*506T>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 884002	NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)	PEX5 (N499S +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 884001	NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 883932	NM_001351132.2(PEX5):c.317-6T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 883931	NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe)	PEX5 (L30F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883930	NM_001351132.2(PEX5):c.48G>C (p.Pro16=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 883929	NM_001351132.2(PEX5):c.-16-149A>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883928	NM_001351132.2(PEX5):c.-17+249C>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883261	NM_001351132.2(PEX5):c.*296C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883260	NM_001351132.2(PEX5):c.*249C>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883259	NM_001351132.2(PEX5):c.*171A>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883258	NM_001351132.2(PEX5):c.*137C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883211	NM_001351132.2(PEX5):c.1395-14T>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 883210	NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 883209	NM_001351132.2(PEX5):c.1111-12A>G	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 883208	NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)	PEX5 (R308C +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 883151	NM_001351132.2(PEX5):c.-17+102G>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883150	NM_001351132.2(PEX5):c.-17+71G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 883149	NM_001351132.2(PEX5):c.-17+65C>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 882175	NM_001351132.2(PEX5):c.*1097T>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 882116	NM_001351132.2(PEX5):c.*114C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 882115	NM_001351132.2(PEX5):c.*110G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 882114	NM_001351132.2(PEX5):c.*61C>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 882062	NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser)	PEX5 (A244S +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 882061	NM_001351132.2(PEX5):c.708C>T (p.Gly236=)	PEX5	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 881986	NM_001351132.2(PEX5):c.-49G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 880779	NM_001351132.2(PEX5):c.*932A>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 880778	NM_001351132.2(PEX5):c.*766C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 880715	NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)	PEX5 (R581W +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +1 more	GUncertain significance
Select item 779711	NM_001351132.2(PEX5):c.998G>A (p.Arg333His)	PEX5 (R288H +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 770225	NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign/Likely benign
Select item 768511	NM_001351132.2(PEX5):c.147+77_147+121del	PEX5	Microsatellite (splice donor variant)	Rhizomelic chondrodysplasia punctata type 5 +3 more	GConflicting classifications of pathogenicity
Select item 728603	NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 597182	NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)	PEX5 (P151R +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 595094	NM_001351132.2(PEX5):c.-5T>C	PEX5 (V20A)	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GUncertain significance
Select item 565733	NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)	PEX5 (R546C +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 559038	NM_001351132.2(PEX5):c.967-26C>G	PEX5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 499350	NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)	PEX5 (S141A +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 498328	NM_001351132.2(PEX5):c.230G>A (p.Arg77His)	PEX5 (R77H +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 449585	NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)	PEX5 (Q166E +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 310464	NM_001131025.1(PEX5):c.*1259G>C	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310463	NM_001131025.1(PEX5):c.*1251G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310462	NM_001351132.2(PEX5):c.*1139T>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310461	NM_001351132.2(PEX5):c.*1134T>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310460	NM_001351132.2(PEX5):c.*1134T>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310458	NM_001351132.2(PEX5):c.*1089T>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310457	NM_001351132.2(PEX5):c.*1080T>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310455	NM_001351132.2(PEX5):c.*960C>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GBenign
Select item 310454	NM_001351132.2(PEX5):c.*891A>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310452	NM_001351132.2(PEX5):c.*755C>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 310451	NM_001351132.2(PEX5):c.*722G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310450	NM_001351132.2(PEX5):c.*677G>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310449	NM_001351132.2(PEX5):c.*628G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 310448	NM_001351132.2(PEX5):c.*627C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310447	NM_001351132.2(PEX5):c.*495G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310446	NM_001351132.2(PEX5):c.*462G>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 310445	NM_001351132.2(PEX5):c.*452G>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310443	NM_001351132.2(PEX5):c.*403C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310442	NM_001351132.2(PEX5):c.*322C>T	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310441	NM_001351132.2(PEX5):c.*179A>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310440	NM_001351132.2(PEX5):c.*141G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 310439	NM_001351132.2(PEX5):c.*132C>G	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310438	NM_001351132.2(PEX5):c.*81A>C	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 310437	NM_001351132.2(PEX5):c.*75G>A	PEX5	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 310436	NM_001351132.2(PEX5):c.*1C>T	PEX5	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310435	NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)	PEX5 (M626I +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +2 more	GUncertain significance
Select item 310434	NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 310433	NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr)	PEX5 (A625T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 310432	NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr)	PEX5 (S617T +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GUncertain significance
Select item 310431	NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 310430	NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 310427	NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)	PEX5 (N520S +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 310426	NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)	PEX5 (V500M +6 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2A (Zellweger) +2 more	GUncertain significance
Select item 310425	NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +2 more	GConflicting classifications of pathogenicity
Select item 310424	NM_001351132.2(PEX5):c.967-15G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 310423	NM_001351132.2(PEX5):c.909T>C (p.Ala303=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 310422	NM_001351132.2(PEX5):c.754-4G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 310421	NM_001351132.2(PEX5):c.643-5C>T	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 310420	NM_001351132.2(PEX5):c.552-7G>A	PEX5	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 2A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 310418	NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)	PEX5 (G178E +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 2B +3 more	GUncertain significance
Select item 310417	NM_001351132.2(PEX5):c.498A>G (p.Gln166=)	PEX5	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 2B +1 more	GConflicting classifications of pathogenicity
Select item 310416	NM_001351132.2(PEX5):c.-16-274G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310415	NM_001351132.2(PEX5):c.-17+290T>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 310414	NM_001351132.2(PEX5):c.-17+273G>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 310413	NM_001351132.2(PEX5):c.-17+240G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310412	NM_001351132.2(PEX5):c.-17+188T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 310411	NM_001351132.2(PEX5):c.-17+185T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310410	NM_001351132.2(PEX5):c.-17+151G>A	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GLikely benign
Select item 310409	NM_001351132.2(PEX5):c.-17+40T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 310406	NM_001351132.2(PEX5):c.-20C>G	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger) +1 more	GBenign
Select item 310405	NM_001351132.2(PEX5):c.-49G>T	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance
Select item 310404	NM_001351132.2(PEX5):c.-53T>C	PEX5	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 2A (Zellweger)	GUncertain significance

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