ClinVar for Gene (Select 57798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346516	NM_000466.3(PEX1):c.2946T>C (p.Ala982=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	PEX1-related disorder	GLikely benign
Select item 3344032	NM_000466.3(PEX1):c.3655C>T (p.Gln1219Ter)	GATAD1, PEX1 (Q1011* +2 more)	Single nucleotide variant (nonsense)	PEX1-related disorder	GLikely pathogenic
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 3280862	NM_021167.5(GATAD1):c.676C>A (p.Pro226Thr)	GATAD1 (P226T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280861	NM_021167.5(GATAD1):c.622C>T (p.Pro208Ser)	GATAD1 (P208S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280860	NM_021167.5(GATAD1):c.550G>C (p.Ala184Pro)	GATAD1 (A184P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280859	NM_021167.5(GATAD1):c.484G>C (p.Asp162His)	GATAD1 (D162H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280858	NM_021167.5(GATAD1):c.5C>T (p.Pro2Leu)	GATAD1, LOC129998793 (P2L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3280857	NM_021167.5(GATAD1):c.191C>G (p.Thr64Ser)	GATAD1, LOC129998793 (T64S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3245807	NC_000007.13:g.(?_92077044)_(92085876_?)dup	GATAD1	Duplication	Dilated cardiomyopathy 2B	GUncertain significance
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 3227586	NM_021167.5(GATAD1):c.786G>C (p.Lys262Asn)	GATAD1 (K262N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227585	NM_021167.5(GATAD1):c.716C>T (p.Thr239Ile)	GATAD1 (T239I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227584	NM_021167.5(GATAD1):c.520A>G (p.Ile174Val)	GATAD1 (I174V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227583	NM_021167.5(GATAD1):c.480A>G (p.Glu160=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227582	NM_021167.5(GATAD1):c.376-4A>G	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3227581	NM_021167.5(GATAD1):c.374A>T (p.Asn125Ile)	GATAD1 (N125I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227580	NM_021167.5(GATAD1):c.300C>G (p.Tyr100Ter)	GATAD1 (Y100*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227579	NM_021167.5(GATAD1):c.24C>T (p.Thr8=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227578	NM_021167.5(GATAD1):c.242G>A (p.Gly81Asp)	GATAD1, LOC129998793 (G81D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227577	NM_021167.5(GATAD1):c.161G>A (p.Gly54Asp)	GATAD1, LOC129998793 (G54D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 3098765	NM_021167.5(GATAD1):c.19C>T (p.Pro7Ser)	GATAD1, LOC129998793 (P7S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 2990279	NM_021167.5(GATAD1):c.84C>T (p.Ile28=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	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 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 2914061	NM_021167.5(GATAD1):c.306T>A (p.Ser102=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	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 2912920	NM_021167.5(GATAD1):c.234C>G (p.Gly78=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	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 2910283	NM_021167.5(GATAD1):c.249+20C>T	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	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=)	PEX1, GATAD1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign
Select item 2883559	NM_021167.5(GATAD1):c.250-19T>C	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	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 2824454	NM_021167.5(GATAD1):c.288A>T (p.Arg96Ser)	GATAD1 (R96S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 2823732	NM_021167.5(GATAD1):c.604G>C (p.Ala202Pro)	GATAD1 (A202P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 2806521	NM_021167.5(GATAD1):c.787G>C (p.Glu263Gln)	GATAD1 (E263Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 2784493	NM_021167.5(GATAD1):c.791C>T (p.Ser264Leu)	GATAD1 (S264L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 2781485	NM_000466.3(PEX1):c.3208-19G>A	PEX1, GATAD1	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 2758817	NM_021167.5(GATAD1):c.503C>G (p.Ala168Gly)	GATAD1 (A168G)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 2756728	NM_021167.5(GATAD1):c.109G>A (p.Gly37Ser)	GATAD1, LOC129998793 (G37S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 2754272	NM_021167.5(GATAD1):c.770dup (p.Ala258fs)	GATAD1 (A258fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 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 2746189	NM_000466.3(PEX1):c.3396C>T (p.Ser1132=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GLikely benign

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