Related gene-specific medical variations for Gene (Select 5189) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305828	NM_000466.3(PEX1):c.3769T>C (p.Tyr1257His)	GATAD1, PEX1 (Y1200H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305824	NM_000466.3(PEX1):c.3788C>T (p.Pro1263Leu)	GATAD1, PEX1 (P1055L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3240080	NM_000466.3(PEX1):c.594del (p.Lys198fs)	PEX1 (K198fs)	Deletion (frameshift variant +1 more)	Heimler syndrome 1	GPathogenic
Select item 3240079	NM_000466.3(PEX1):c.513del (p.Asp172fs)	PEX1 (D172fs)	Deletion (frameshift variant +1 more)	Heimler syndrome 1	GLikely pathogenic
Select item 3240078	NM_000466.3(PEX1):c.2693_2705del (p.Ser898fs)	PEX1 (S690fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240077	NM_000466.3(PEX1):c.3336del (p.Met1113fs)	GATAD1, PEX1 (M1056fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240076	NM_000466.3(PEX1):c.3235dup (p.Leu1079fs)	GATAD1, PEX1 (L1022fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240075	NM_000466.3(PEX1):c.3657_3658del (p.Gln1219fs)	GATAD1, PEX1 (Q1011fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240074	NM_000466.3(PEX1):c.2210_2213del (p.Ile737fs)	PEX1 (I529fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240073	NM_000466.3(PEX1):c.1713_1716del (p.His572fs)	PEX1 (H364fs +1 more)	Microsatellite (frameshift variant)	Heimler syndrome 1	GPathogenic
Select item 3240072	NM_000466.3(PEX1):c.2090_2091del (p.Lys697fs)	PEX1 (K489fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240071	NM_000466.3(PEX1):c.1906del (p.Arg636fs)	PEX1 (R428fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 1	GLikely pathogenic
Select item 3240070	NM_000466.3(PEX1):c.2417-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240069	NM_000466.3(PEX1):c.1340del (p.Leu447fs)	PEX1 (L239fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3240068	NM_000466.3(PEX1):c.2148del (p.Gln716fs)	PEX1 (Q508fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 3211479	NM_000466.3(PEX1):c.3841A>G (p.Thr1281Ala)	GATAD1, PEX1 (T1073A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053501	NM_000466.3(PEX1):c.3675C>A (p.Thr1225=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	PEX1-related disorder	GLikely benign
Select item 3043101	NM_000466.3(PEX1):c.3083_3084delinsCA (p.Asp1028Ala)	GATAD1, PEX1 (D1028A +2 more)	Indel (missense variant)	PEX1-related disorder	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 3016438	NM_000466.3(PEX1):c.3030+13T>C	GATAD1, 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 3007291	NM_000466.3(PEX1):c.3637-15C>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	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 3000392	NM_000466.3(PEX1):c.2967T>C (p.Ile989=)	GATAD1, 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 2988376	NM_000466.3(PEX1):c.3439-15C>T	GATAD1, 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 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 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 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 2909620	NM_000466.3(PEX1):c.3207+11T>C	GATAD1, 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 2887523	NM_000466.3(PEX1):c.3767+12A>T	GATAD1, 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 2884022	NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)	GATAD1, PEX1	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 2879241	NM_000466.3(PEX1):c.3030+10T>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	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 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 2852442	NM_000466.3(PEX1):c.3774A>G (p.Glu1258=)	GATAD1, 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 2847639	NM_000466.3(PEX1):c.3207+8A>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2844946	NM_000466.3(PEX1):c.2927-4C>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2843568	NM_000466.3(PEX1):c.3678A>G (p.Arg1226=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2837046	NM_000466.3(PEX1):c.3567A>G (p.Thr1189=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2836238	NM_000466.3(PEX1):c.3767+15_3767+16del	GATAD1, PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2833463	NM_000466.3(PEX1):c.3513T>C (p.Phe1171=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2831308	NM_000466.3(PEX1):c.3384C>A (p.Leu1128=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2829455	NM_000466.3(PEX1):c.3048T>C (p.Ile1016=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2828382	NM_000466.3(PEX1):c.3637-18T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2822335	NM_000466.3(PEX1):c.2943T>A (p.Ala981=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2817565	NM_000466.3(PEX1):c.2919C>G (p.Gly973=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2800703	NM_000466.3(PEX1):c.2817T>C (p.Phe939=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2794809	NM_000466.3(PEX1):c.3637-19del	GATAD1, PEX1	Deletion (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2790672	NM_000466.3(PEX1):c.3828T>A (p.Pro1276=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2781485	NM_000466.3(PEX1):c.3208-19G>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2776041	NM_000466.3(PEX1):c.3588G>A (p.Leu1196=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2770778	NM_000466.3(PEX1):c.3636+14C>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2769872	NM_000466.3(PEX1):c.3031-7C>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2769168	NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)	GATAD1, PEX1 (Q873* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders	GPathogenic
Select item 2767803	NM_000466.3(PEX1):c.2895G>A (p.Leu965=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2763285	NM_000466.3(PEX1):c.3439-11T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2763230	NM_000466.3(PEX1):c.3624del (p.Ser1209fs)	GATAD1, PEX1 (S1209fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders	GPathogenic
Select item 2757201	NM_000466.3(PEX1):c.2784-6T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2755763	NM_000466.3(PEX1):c.3582T>C (p.Asp1194=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2752923	NM_000466.3(PEX1):c.3111A>T (p.Ser1037=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2752124	NM_000466.3(PEX1):c.78C>T (p.Asp26=)	LOC129998796, PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2751490	NM_000466.3(PEX1):c.3360A>G (p.Glu1120=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2748078	NM_000466.3(PEX1):c.2927-17G>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2747575	NM_000466.3(PEX1):c.2910A>T (p.Gly970=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2746976	NM_000466.3(PEX1):c.19C>T (p.Leu7=)	PEX1, LOC129998796	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2746711	NM_000466.3(PEX1):c.46del (p.Ala16fs)	LOC129998796, PEX1 (A16fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders	GPathogenic
Select item 2746189	NM_000466.3(PEX1):c.3396C>T (p.Ser1132=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2741136	NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)	GATAD1, PEX1 (D983fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders	GPathogenic
Select item 2741063	NM_000466.3(PEX1):c.3195G>C (p.Ser1065=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2740557	NM_000466.3(PEX1):c.3636+12T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2738288	NM_000466.3(PEX1):c.3438+20T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2734500	NM_000466.3(PEX1):c.3637-19A>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2731689	NM_000466.3(PEX1):c.3636+19C>T	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2724934	NM_000466.3(PEX1):c.3438+17T>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2718520	NM_000466.3(PEX1):c.54T>G (p.Thr18=)	LOC129998796, PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2712179	NM_000466.3(PEX1):c.39C>T (p.Gly13=)	LOC129998796, PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders +1 more	GLikely benign
Select item 2711688	NM_000466.3(PEX1):c.3768-17T>A	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2711535	NM_000466.3(PEX1):c.75C>T (p.Arg25=)	LOC129998796, PEX1	Single nucleotide variant (synonymous variant +1 more)	Zellweger spectrum disorders	GLikely benign
Select item 2709378	NM_000466.3(PEX1):c.3637-9T>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders	GLikely benign
Select item 2706339	NM_000466.3(PEX1):c.3249A>G (p.Ser1083=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2704486	NM_000466.3(PEX1):c.3321C>T (p.Ser1107=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign

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