8504[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 355567	NM_003630.2(PEX3):c.-247T>C	PEX3	Single nucleotide variant	Peroxisome biogenesis disorder 1A (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 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 355569	NM_003630.3(PEX3):c.-197T>C	PEX3	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 10A (Zellweger)	GBenign
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 355570	NM_003630.3(PEX3):c.-175dup	PEX3	Duplication (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
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 355572	NM_003630.3(PEX3):c.-150CT[3]	PEX3	Microsatellite (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (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 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 1496988	NM_003630.3(PEX3):c.16T>A (p.Trp6Arg)	PEX3 (W6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029735	NM_003630.3(PEX3):c.16T>C (p.Trp6Arg)	PEX3 (W6R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 10B	GUncertain significance
Select item 1457724	NM_003630.3(PEX3):c.17G>A (p.Trp6Ter)	PEX3 (W6*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder +1 more	GPathogenic
Select item 2122130	NM_003630.3(PEX3):c.20A>G (p.Asn7Ser)	PEX3 (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998047	NM_003630.3(PEX3):c.26T>A (p.Leu9Gln)	PEX3 (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396659	NM_003630.3(PEX3):c.28A>C (p.Lys10Gln)	PEX3 (K10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3036528	NM_003630.3(PEX3):c.54C>T (p.Phe18=)	PEX3	Single nucleotide variant (synonymous variant)	PEX3-related condition	GLikely benign
Select item 1085293	NM_003630.3(PEX3):c.57G>C (p.Leu19=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100452	NM_003630.3(PEX3):c.62C>T (p.Thr21Met)	PEX3 (T21M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026359	NM_003630.3(PEX3):c.70G>A (p.Gly24Arg)	PEX3 (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556508	NM_003630.3(PEX3):c.73+12C>T	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543377	NM_003630.3(PEX3):c.73+13G>A	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635054	NM_003630.3(PEX3):c.73+17T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227796	NM_003630.3(PEX3):c.73+59C>T	PEX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290265	NM_003630.3(PEX3):c.74-252A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342061	NM_003630.3(PEX3):c.74-68G>A	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735588	NM_003630.3(PEX3):c.74-20T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615444	NM_003630.3(PEX3):c.74-15T>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954724	NM_003630.3(PEX3):c.74-12T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100354	NM_003630.3(PEX3):c.74-10A>T	PEX3	Single nucleotide variant (intron variant)	PEX3-related condition +1 more	GLikely benign
Select item 1137799	NM_003630.3(PEX3):c.74-9T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1079038	NM_003630.3(PEX3):c.74-7A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022560	NM_003630.3(PEX3):c.74-6T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046977	NM_003630.3(PEX3):c.74-5T>A	PEX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1579093	NM_003630.3(PEX3):c.74-5T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659627	NM_003630.3(PEX3):c.74-4G>A	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1417299	NM_003630.3(PEX3):c.74G>A (p.Gly25Glu)	PEX3 (G25E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053750	NM_003630.3(PEX3):c.76G>A (p.Val26Ile)	PEX3 (V26I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501532	NM_003630.3(PEX3):c.88G>C (p.Gly30Arg)	PEX3 (G30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2718950	NM_003630.3(PEX3):c.115_116del (p.Glu39fs)	PEX3 (E39fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2050458	NM_003630.3(PEX3):c.123G>A (p.Gln41=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1324884	NM_003630.3(PEX3):c.130G>T (p.Glu44Ter)	PEX3 (E44*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1034671	NM_003630.3(PEX3):c.130G>A (p.Glu44Lys)	PEX3 (E44K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2723158	NM_003630.3(PEX3):c.144C>T (p.Tyr48=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2082156	NM_003630.3(PEX3):c.145A>G (p.Ile49Val)	PEX3 (I49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456893	NM_003630.3(PEX3):c.157C>T (p.Arg53Ter)	PEX3 (R53*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2239548	NM_003630.3(PEX3):c.158G>T (p.Arg53Leu)	PEX3 (R53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849251	NM_003630.3(PEX3):c.158G>A (p.Arg53Gln)	PEX3 (R53Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361900	NM_003630.3(PEX3):c.160C>T (p.Arg54Ter)	PEX3 (R54*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1425864	NM_003630.3(PEX3):c.161G>A (p.Arg54Gln)	PEX3 (R54Q)	Single nucleotide variant (missense variant)	PEX3-related condition +1 more	GUncertain significance
Select item 2093859	NM_003630.3(PEX3):c.164A>C (p.Gln55Pro)	PEX3 (Q55P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1388639	NM_003630.3(PEX3):c.170A>G (p.His57Arg)	PEX3 (H57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544441	NM_003630.3(PEX3):c.183C>T (p.Asn61=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598131	NM_003630.3(PEX3):c.183C>A (p.Asn61Lys)	PEX3 (N61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100845	NM_003630.3(PEX3):c.184C>A (p.Gln62Lys)	PEX3 (Q62K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962442	NM_003630.3(PEX3):c.189G>A (p.Arg63=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878629	NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)	PEX3 (T64P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 1062107	NM_003630.3(PEX3):c.197A>G (p.Asn66Ser)	PEX3 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900608	NM_003630.3(PEX3):c.203_204dup (p.Val69fs)	PEX3 (V69fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2242944	NM_003630.3(PEX3):c.205G>A (p.Val69Met)	PEX3 (V69M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1138560	NM_003630.3(PEX3):c.205+14A>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342062	NM_003630.3(PEX3):c.205+183A>T	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294063	NM_003630.3(PEX3):c.205+302A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247605	NM_003630.3(PEX3):c.206-101T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259105	NM_003630.3(PEX3):c.206-14del	PEX3	Deletion (intron variant)	not provided +3 more	GBenign
Select item 2119454	NM_003630.3(PEX3):c.206-20T>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 846011	NM_003630.3(PEX3):c.206-10T>G	PEX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870242	NM_003630.3(PEX3):c.206-7A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814339	NM_003630.3(PEX3):c.210G>A (p.Leu70=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387168	NM_003630.3(PEX3):c.212C>T (p.Ser71Phe)	PEX3 (S71F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004416	NM_003630.3(PEX3):c.214A>G (p.Met72Val)	PEX3 (M72V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508183	NM_003630.3(PEX3):c.220C>G (p.Pro74Ala)	PEX3 (P74A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800237	NM_003630.3(PEX3):c.227_228del (p.Leu76fs)	PEX3 (L76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2966423	NM_003630.3(PEX3):c.234G>A (p.Glu78=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440067	NM_003630.3(PEX3):c.235G>A (p.Ala79Thr)	PEX3 (A79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005927	NM_003630.3(PEX3):c.244_245inv (p.Gln82Trp)	PEX3 (Q82W)	Inversion (missense variant)	not provided	GLikely benign
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 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 2962821	NM_003630.3(PEX3):c.250C>T (p.Leu84=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595253	NM_003630.3(PEX3):c.254A>G (p.Asn85Ser)	PEX3 (N85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954150	NM_003630.3(PEX3):c.259G>A (p.Glu87Lys)	PEX3 (E87K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577276	NM_003630.3(PEX3):c.274C>T (p.Leu92=)	PEX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2859949	NM_003630.3(PEX3):c.276G>T (p.Leu92=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674791	NM_003630.3(PEX3):c.276G>A (p.Leu92=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024264	NM_003630.3(PEX3):c.285C>T (p.Asn95=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026595	NM_003630.3(PEX3):c.287+7_287+9del	PEX3	Deletion (intron variant)	not provided	GLikely benign
Select item 717023	NM_003630.3(PEX3):c.287+9A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648727	NM_003630.3(PEX3):c.287+14dup	PEX3	Duplication (intron variant)	not provided	GBenign
Select item 2767759	NM_003630.3(PEX3):c.287+14A>T	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180560	NM_003630.3(PEX3):c.287+16A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229545	NM_003630.3(PEX3):c.288-219G>A	PEX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180325	NM_003630.3(PEX3):c.288-78A>T	PEX3	Single nucleotide variant (intron variant)	not provided	GBenign

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