ClinVar for MedGen (Select 21958) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245710	NC_000007.13:g.(?_92146662)_(92148110_?)del	PEX1	Deletion	Zellweger spectrum disorders	GLikely pathogenic
Select item 3245709	NC_000007.13:g.(?_92146659)_(92148107_?)del	PEX1	Deletion	Zellweger spectrum disorders	GLikely pathogenic
Select item 3245708	NC_000007.13:g.(?_92136298)_(92140371_?)del	PEX1	Deletion	Zellweger spectrum disorders	GPathogenic
Select item 3245707	NC_000007.13:g.(?_92116771)_(92116875_?)del	PEX1	Deletion	Zellweger spectrum disorders	GPathogenic
Select item 3245706	NC_000007.13:g.(?_92126007)_(92126111_?)del	PEX1	Deletion	Zellweger spectrum disorders	GPathogenic
Select item 3075992	NM_002857.4(PEX19):c.606del (p.Trp202fs)	PEX19 (W202fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders	GLikely pathogenic
Select item 3023581	NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)	PEX1 (D304V +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 3023117	NM_000466.3(PEX1):c.3767+11G>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3021622	NM_000466.3(PEX1):c.1803+14G>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3017638	NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)	PEX1 (Q659* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders	GPathogenic
Select item 3016630	NM_000466.3(PEX1):c.564A>G (p.Thr188=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 3016438	NM_000466.3(PEX1):c.3030+13T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3013695	NM_000466.3(PEX1):c.1483+18T>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3013395	NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)	GATAD1, PEX1 (Y1077fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders	GPathogenic
Select item 3008002	NM_000466.3(PEX1):c.1670+10T>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3007291	NM_000466.3(PEX1):c.3637-15C>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3006204	NM_000466.3(PEX1):c.174G>A (p.Leu58=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 3001455	NM_000466.3(PEX1):c.2784-9T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3000666	NM_000466.3(PEX1):c.1240-15A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 3000393	NM_000466.3(PEX1):c.198T>C (p.Phe66=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 3000392	NM_000466.3(PEX1):c.2967T>C (p.Ile989=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2998845	NM_000466.3(PEX1):c.1185C>T (p.Asn395=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2998299	NM_000466.3(PEX1):c.2926+12A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2990809	NM_000466.3(PEX1):c.2417-20T>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2990358	NM_000466.3(PEX1):c.2721G>A (p.Gly907=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2988376	NM_000466.3(PEX1):c.3439-15C>T	PEX1, GATAD1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2988279	NM_000466.3(PEX1):c.2071+11C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2979386	NM_000466.3(PEX1):c.2433A>G (p.Thr811=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2976608	NM_000466.3(PEX1):c.1239+17T>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2974297	NM_000466.3(PEX1):c.3768-16C>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2972609	NM_000466.3(PEX1):c.1803+20T>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2972232	NM_000466.3(PEX1):c.1588-16T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2967456	NM_000466.3(PEX1):c.2417-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders	GLikely pathogenic
Select item 2967421	NM_000466.3(PEX1):c.3076C>T (p.Leu1026=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2964370	NM_000466.3(PEX1):c.3768-14_3768-13del	GATAD1, PEX1	Microsatellite (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2962489	NM_000466.3(PEX1):c.1587+1G>T	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders	GLikely pathogenic
Select item 2957305	NM_000466.3(PEX1):c.2583+15A>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2955048	NM_000466.3(PEX1):c.2927-14_2927-12del	GATAD1, PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2918686	NM_000466.3(PEX1):c.3768-20T>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2917622	NM_000466.3(PEX1):c.3453C>T (p.Leu1151=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2917153	NM_000466.3(PEX1):c.1671-15_1671-12del	PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2916032	NM_000466.3(PEX1):c.1587+15T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2914699	NM_000466.3(PEX1):c.3439-21_3439-16dup	GATAD1, PEX1	Duplication (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2913198	NM_000466.3(PEX1):c.2926+11T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2912625	NM_000466.3(PEX1):c.3228T>C (p.Asp1076=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2910725	NM_000466.3(PEX1):c.1587+16T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2909620	NM_000466.3(PEX1):c.3207+11T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2906706	NM_000466.3(PEX1):c.1588-4G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2904571	NM_000466.3(PEX1):c.2783+20T>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2904031	NM_000466.3(PEX1):c.2071+15C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2900496	NM_000466.3(PEX1):c.1239+8T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2899837	NM_000466.3(PEX1):c.2784-15G>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2899728	NM_000466.3(PEX1):c.1671-12T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2895171	NM_000466.3(PEX1):c.273+20A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2894878	NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)	PEX1 (E186*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders	GPathogenic
Select item 2892936	NM_000466.3(PEX1):c.129+18A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2890616	NM_000466.3(PEX1):c.1670+12T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2888701	NM_000466.3(PEX1):c.1359+11AT[3]	PEX1	Microsatellite (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2887978	NM_000466.3(PEX1):c.129+17G>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2887523	NM_000466.3(PEX1):c.3767+12A>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2886242	NM_000466.3(PEX1):c.129+16C>T	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2886035	NM_000466.3(PEX1):c.3767+9C>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2884943	NM_000466.3(PEX1):c.345T>C (p.Asp115=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2884829	NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)	PEX1 (W205* +1 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders	GPathogenic
Select item 2884022	NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)	PEX1, GATAD1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2882521	NM_000466.3(PEX1):c.3637-8T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2880636	NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)	PEX1 (Y124fs +1 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders	GPathogenic
Select item 2880036	NM_000466.3(PEX1):c.2416+13A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2879241	NM_000466.3(PEX1):c.3030+10T>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2878092	NM_000466.3(PEX1):c.984T>C (p.Phe328=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2877966	NM_000466.3(PEX1):c.473-13dup	PEX1	Duplication (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2876236	NM_000466.3(PEX1):c.642A>G (p.Gln214=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2870395	NM_000466.3(PEX1):c.1671-11A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2867764	NM_000466.3(PEX1):c.358-10T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2866831	NM_000466.3(PEX1):c.2072-8A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2866380	NM_000466.3(PEX1):c.285G>A (p.Lys95=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2865549	NM_000466.3(PEX1):c.2037T>C (p.Ser679=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2865371	NM_000466.3(PEX1):c.258C>G (p.Leu86=)	PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2863954	NM_000466.3(PEX1):c.2927-9T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2862109	NM_000466.3(PEX1):c.1804-13A>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2861343	NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)	GATAD1, PEX1	Microsatellite (inframe_insertion)	Zellweger spectrum disorders	GPathogenic
Select item 2860158	NM_000466.3(PEX1):c.3330T>G (p.Ser1110=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2859469	NM_000466.3(PEX1):c.2071+14C>A	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2859457	NM_000466.3(PEX1):c.1901-1G>T	PEX1	Single nucleotide variant (intron variant +1 more)	Zellweger spectrum disorders	GLikely pathogenic
Select item 2858011	NM_000466.3(PEX1):c.2154A>T (p.Leu718=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2857985	NM_000466.3(PEX1):c.2361del (p.Val788fs)	PEX1 (V580fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders	GPathogenic
Select item 2856964	NM_000466.3(PEX1):c.472+10A>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2856131	NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)	PEX1 (T267fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders	GPathogenic
Select item 2854866	NM_000466.3(PEX1):c.968A>T (p.Asp323Val)	PEX1 (D115V +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 2853840	NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)	PEX1 (K411* +1 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders	GPathogenic
Select item 2852442	NM_000466.3(PEX1):c.3774A>G (p.Glu1258=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2852274	NM_000466.3(PEX1):c.2416+1G>A	PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders	GPathogenic
Select item 2852119	NM_000466.3(PEX1):c.1170A>G (p.Gly390=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2849661	NM_000466.3(PEX1):c.3070C>T (p.Leu1024=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2848518	NM_000466.3(PEX1):c.3636+20A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2848158	NM_000466.3(PEX1):c.3030+15T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2848097	NM_000466.3(PEX1):c.2772T>C (p.Asp924=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2847639	NM_000466.3(PEX1):c.3207+8A>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2847062	NM_000466.3(PEX1):c.885T>C (p.Pro295=)	PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2847017	NM_000466.3(PEX1):c.2072-18T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign

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