"GeneDx"[submitter] AND "PEX1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188007	NM_000466.3(PEX1):c.3768-243_3768-242del	GATAD1, PEX1	Deletion (intron variant)	not provided	GLikely benign
Select item 1247911	NM_000466.3(PEX1):c.3767+113C>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1675233	NM_000466.3(PEX1):c.3767+49A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 188981	NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)	GATAD1, PEX1 (Q1174fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 1213583	NM_000466.3(PEX1):c.3637-53dup	GATAD1, PEX1	Duplication (intron variant)	not provided	GLikely benign
Select item 371698	NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)	GATAD1, PEX1 (Q1192* +2 more)	Single nucleotide variant (nonsense)	PEX1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 360913	NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile)	GATAD1, PEX1 (T1189I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 256220	NM_000466.3(PEX1):c.3439-14_3439-13del	GATAD1, PEX1	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1242326	NM_000466.3(PEX1):c.3439-59=	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 596889	NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)	GATAD1, PEX1	Deletion (inframe_deletion)	not specified +2 more	GUncertain significance
Select item 817583	NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)	GATAD1, PEX1	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 287046	NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)	GATAD1, PEX1 (C1045fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 371765	NM_000466.3(PEX1):c.3208-1G>A	PEX1, GATAD1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1229478	NM_000466.3(PEX1):c.3208-43A>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262779	NM_000466.3(PEX1):c.3208-178del	GATAD1, PEX1	Deletion (intron variant)	not provided	GBenign
Select item 1197686	NM_000466.3(PEX1):c.3207+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1035566	NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile)	GATAD1, PEX1 (L994I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553776	NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)	PEX1, GATAD1 (L1026P +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +4 more	GConflicting classifications of pathogenicity
Select item 1050242	NM_000466.3(PEX1):c.3074C>T (p.Pro1025Leu)	GATAD1, PEX1 (P1025L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289972	NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)	GATAD1, PEX1 (E1015A +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 288256	NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)	GATAD1, PEX1 (V1011M +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 1236653	NM_000466.3(PEX1):c.3031-148T>C	PEX1, GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224325	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	GATAD1, PEX1 (I989T +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 189002	NM_000466.3(PEX1):c.2926+2T>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 188729	NM_000466.3(PEX1):c.2926+1G>A	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 1A (Zellweger) +6 more	GPathogenic/Likely pathogenic
Select item 371696	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	PEX1, GATAD1 (L917fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +3 more	GPathogenic/Likely pathogenic
Select item 189043	NM_000466.3(PEX1):c.2916del (p.Gly973fs)	GATAD1, PEX1 (G973fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 93109	NM_000466.3(PEX1):c.2901G>A (p.Gln967=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 593681	NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln)	GATAD1, PEX1 (R959Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 371716	NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)	GATAD1, PEX1 (R959* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 556176	NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)	GATAD1, PEX1 (R949Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 282809	NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)	GATAD1, PEX1 (R948W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 559082	NM_000466.3(PEX1):c.2784-23G>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 188971	NM_000466.3(PEX1):c.2730del (p.Leu910fs)	PEX1 (L702fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GPathogenic/Likely pathogenic
Select item 2140171	NM_000466.3(PEX1):c.2719-4A>G	PEX1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1295781	NM_000466.3(PEX1):c.2719-244G>A	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179888	NM_000466.3(PEX1):c.2718+183C>A	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218521	NM_000466.3(PEX1):c.2718+134A>G	PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303054	NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)	PEX1 (L671S +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 265395	NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)	PEX1 (R872* +2 more)	Single nucleotide variant (nonsense)	See cases +7 more	GPathogenic
Select item 286353	NM_000466.3(PEX1):c.2584-21dup	PEX1	Duplication (intron variant)	not provided +2 more	GBenign
Select item 360922	NM_000466.3(PEX1):c.2584-10del	PEX1	Deletion (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 194603	NM_000466.3(PEX1):c.2584-11_2584-10del	PEX1	Deletion (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 93107	NM_000466.3(PEX1):c.2584-20T>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 1241122	NM_000466.3(PEX1):c.2584-245A>T	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222312	NM_000466.3(PEX1):c.2583+136del	PEX1	Deletion (intron variant)	not provided	GBenign
Select item 7516	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	PEX1 (G843D +2 more)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic
Select item 1265750	NM_000466.3(PEX1):c.2417-42T>C	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 360923	NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)	PEX1 (T803I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 188873	NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)	PEX1 (R795* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder +5 more	GPathogenic/Likely pathogenic
Select item 93105	NM_000466.3(PEX1):c.2331C>A (p.Gly777=)	PEX1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 2499776	NM_000466.3(PEX1):c.2227-3T>A	PEX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1311356	NM_000466.3(PEX1):c.2227-11T>A	PEX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1237880	NM_000466.3(PEX1):c.2226+139A>G	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698023	NM_000466.3(PEX1):c.2226+57del	PEX1	Deletion (intron variant)	not provided	GLikely benign
Select item 1307482	NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg)	PEX1 (Q524R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic
Select item 129882	NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)	PEX1 (I696M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 928942	NM_000466.3(PEX1):c.2071+1G>T	PEX1	Single nucleotide variant (intron variant +1 more)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 497946	NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)	PEX1 (A682V +1 more)	Single nucleotide variant (missense variant +1 more)	Zellweger spectrum disorders +1 more	GConflicting classifications of pathogenicity
Select item 1295390	NM_000466.3(PEX1):c.1900+142_1900+143insTCTTAGAAATTTTAAG	PEX1	Insertion (intron variant)	not provided	GBenign
Select item 632940	NM_000466.3(PEX1):c.1900+2T>C	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1303847	NM_000466.3(PEX1):c.1899A>T (p.Arg633=)	PEX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 554241	NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)	PEX1	Deletion (nonsense)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 371703	NM_000466.3(PEX1):c.1842del (p.Glu615fs)	PEX1 (E407fs +1 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2662127	NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)	PEX1 (L400S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559084	NM_000466.3(PEX1):c.1804-28G>A	PEX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1263015	NM_000466.3(PEX1):c.1804-144A>T	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251121	NM_000466.3(PEX1):c.1803+235A>G	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195753	NM_000466.3(PEX1):c.1803+185_1803+187del	PEX1	Deletion (intron variant)	not provided	GLikely benign
Select item 1024229	NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)	PEX1 (R373Q +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 256218	NM_000466.3(PEX1):c.1671-7T>C	PEX1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1229839	NM_000466.3(PEX1):c.1671-66dup	PEX1	Duplication (intron variant)	not provided	GBenign
Select item 1238153	NM_000466.3(PEX1):c.1671-120del	PEX1	Deletion (intron variant)	not provided	GBenign
Select item 1175695	NM_000466.3(PEX1):c.1671-314C>T	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295391	NM_000466.3(PEX1):c.1670+219T>C	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261915	NM_000466.3(PEX1):c.1670+193del	PEX1	Deletion (intron variant)	not provided	GBenign
Select item 426135	NM_000466.3(PEX1):c.1587+5T>C	PEX1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 256217	NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)	PEX1 (W507C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1177033	NM_000466.3(PEX1):c.1484-36G>A	PEX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1296245	NM_000466.3(PEX1):c.1484-96_1484-95del	PEX1	Deletion (intron variant)	not provided	GBenign
Select item 1229521	NM_000466.3(PEX1):c.1484-95del	PEX1	Deletion (intron variant)	not provided	GBenign
Select item 1192839	NM_000466.3(PEX1):c.1484-106A>G	PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192962	NM_000466.3(PEX1):c.1360-209G>A	PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230940	NM_000466.3(PEX1):c.1360-336A>C	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181173	NM_000466.3(PEX1):c.1359+155C>A	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285507	NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys)	PEX1 (R419K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498412	NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)	PEX1 (D417N +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1272701	NM_000466.3(PEX1):c.1240-279G>A	PEX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186748	NM_000466.3(PEX1):c.1239+161C>G	PEX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 217430	NM_000466.3(PEX1):c.1239+1G>T	PEX1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 286796	NM_000466.3(PEX1):c.1131del (p.Asp378fs)	PEX1 (D378fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1185720	NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr)	PEX1 (K149T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785435	NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)	PEX1 (N271S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 188910	NM_000466.3(PEX1):c.782_783del (p.Gln261fs)	PEX1 (Q261fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder +6 more	GPathogenic/Likely pathogenic
Select item 847180	NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)	PEX1	Deletion (inframe_deletion)	Zellweger spectrum disorders +1 more	GUncertain significance
Select item 93114	NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)	PEX1 (I225N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1205410	NM_000466.3(PEX1):c.484C>T (p.Pro162Ser)	PEX1 (P162S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 167447	NM_000466.3(PEX1):c.473-18G>A	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GBenign
Select item 256221	NM_000466.3(PEX1):c.358-11G>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GBenign

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