ClinVar for Gene (Select 8504) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 393

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
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 3004405	NM_003630.3(PEX3):c.1121G>A (p.Ter374=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980161	NM_003630.3(PEX3):c.942-1G>T	PEX3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2973815	NM_003630.3(PEX3):c.747+15del	PEX3	Deletion (intron variant)	not provided	GLikely benign
Select item 2966423	NM_003630.3(PEX3):c.234G>A (p.Glu78=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962821	NM_003630.3(PEX3):c.250C>T (p.Leu84=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909744	NM_003630.3(PEX3):c.579-12C>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909626	NM_003630.3(PEX3):c.332-13T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874455	NM_003630.3(PEX3):c.942-15G>A	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873216	NM_003630.3(PEX3):c.818+1G>A	PEX3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2870242	NM_003630.3(PEX3):c.206-7A>G	PEX3	Single nucleotide variant (intron variant)	not provided	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 2856189	NM_003630.3(PEX3):c.801T>C (p.Thr267=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839718	NM_003630.3(PEX3):c.819-18A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835048	NM_003630.3(PEX3):c.456+10A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834921	NM_003630.3(PEX3):c.524-17T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828511	NM_003630.3(PEX3):c.385T>C (p.Leu129=)	PEX3	Single nucleotide variant (synonymous 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 2810450	NM_003630.3(PEX3):c.332-20C>T	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800237	NM_003630.3(PEX3):c.227_228del (p.Leu76fs)	PEX3 (L76fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2787646	NM_003630.3(PEX3):c.288-17T>A	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785748	NM_003630.3(PEX3):c.408T>C (p.Ile136=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778188	NM_003630.3(PEX3):c.378T>G (p.Val126=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767759	NM_003630.3(PEX3):c.287+14A>T	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767515	NM_003630.3(PEX3):c.564G>A (p.Gln188=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757954	NM_003630.3(PEX3):c.528G>A (p.Leu176=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757320	NM_003630.3(PEX3):c.604C>G (p.Leu202Val)	PEX3 (L202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752280	NM_003630.3(PEX3):c.745C>T (p.Gln249Ter)	PEX3 (Q249*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2743076	NM_003630.3(PEX3):c.747+10T>G	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 2733104	NM_003630.3(PEX3):c.457-20T>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723158	NM_003630.3(PEX3):c.144C>T (p.Tyr48=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718950	NM_003630.3(PEX3):c.115_116del (p.Glu39fs)	PEX3 (E39fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2717279	NM_003630.3(PEX3):c.807_808del (p.Met270fs)	PEX3 (M270fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2714293	NM_003630.3(PEX3):c.941+19A>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2682958	NM_003630.3(PEX3):c.928A>G (p.Asn310Asp)	PEX3 (N310D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2528284	NM_003630.3(PEX3):c.778A>G (p.Thr260Ala)	PEX3 (T260A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504000	NM_003630.3(PEX3):c.331+1G>C	PEX3	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 2478281	NM_003630.3(PEX3):c.677A>C (p.Asn226Thr)	PEX3 (N226T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445860	NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)	PEX3 (G229*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder	GLikely pathogenic
Select item 2434657	NM_003630.3(PEX3):c.842A>G (p.Asn281Ser)	PEX3 (N281S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432570	NM_003630.3(PEX3):c.332-2A>G	PEX3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2424711	NC_000006.11:g.(?_143806269)_(143806405_?)del	PEX3	Deletion	not provided	GPathogenic
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2415018	NM_003630.3(PEX3):c.601T>A (p.Ser201Thr)	PEX3 (S201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2239548	NM_003630.3(PEX3):c.158G>T (p.Arg53Leu)	PEX3 (R53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193836	NM_003630.3(PEX3):c.941+9A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191956	NM_003630.3(PEX3):c.1047G>A (p.Leu349=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2188076	NM_003630.3(PEX3):c.682G>T (p.Asp228Tyr)	PEX3 (D228Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180560	NM_003630.3(PEX3):c.287+16A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168260	NM_003630.3(PEX3):c.754G>C (p.Gly252Arg)	PEX3 (G252R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166398	NM_003630.3(PEX3):c.288-6C>A	PEX3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2141541	NM_003630.3(PEX3):c.544G>A (p.Val182Ile)	PEX3 (V182I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2134795	NM_003630.3(PEX3):c.941+7T>A	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133545	NM_003630.3(PEX3):c.1114G>A (p.Glu372Lys)	PEX3 (E372K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129493	NM_003630.3(PEX3):c.1044G>T (p.Leu348=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128468	NM_003630.3(PEX3):c.528G>C (p.Leu176=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127223	NM_003630.3(PEX3):c.819-4A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125150	NM_003630.3(PEX3):c.371T>C (p.Met124Thr)	PEX3 (M124T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123863	NM_003630.3(PEX3):c.855C>T (p.Asn285=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123825	NM_003630.3(PEX3):c.1105C>T (p.Gln369Ter)	PEX3 (Q369*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2123346	NM_003630.3(PEX3):c.958C>T (p.Leu320=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2121616	NM_003630.3(PEX3):c.983T>C (p.Ile328Thr)	PEX3 (I328T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120965	NM_003630.3(PEX3):c.360C>G (p.Tyr120Ter)	PEX3 (Y120*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2119454	NM_003630.3(PEX3):c.206-20T>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111334	NM_003630.3(PEX3):c.1039-19A>C	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2109416	NM_003630.3(PEX3):c.341G>T (p.Arg114Ile)	PEX3 (R114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2100354	NM_003630.3(PEX3):c.74-10A>T	PEX3	Single nucleotide variant (intron variant)	PEX3-related condition +1 more	GLikely benign
Select item 2098879	NM_003630.3(PEX3):c.892T>C (p.Phe298Leu)	PEX3 (F298L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098397	NM_003630.3(PEX3):c.1000C>T (p.His334Tyr)	PEX3 (H334Y)	Single nucleotide variant (missense variant)	not provided	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 2093681	NM_003630.3(PEX3):c.941+11A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091807	NM_003630.3(PEX3):c.884T>C (p.Met295Thr)	PEX3 (M295T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088735	NM_003630.3(PEX3):c.636C>A (p.Ile212=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087663	NM_003630.3(PEX3):c.416A>G (p.Tyr139Cys)	PEX3 (Y139C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083319	NM_003630.3(PEX3):c.1073C>T (p.Ala358Val)	PEX3 (A358V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2071738	NM_003630.3(PEX3):c.472C>T (p.Pro158Ser)	PEX3 (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070262	NM_003630.3(PEX3):c.345T>C (p.Ser115=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068086	NM_003630.3(PEX3):c.325A>G (p.Ile109Val)	PEX3 (I109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062150	NM_003630.3(PEX3):c.392T>C (p.Val131Ala)	PEX3 (V131A)	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 2050458	NM_003630.3(PEX3):c.123G>A (p.Gln41=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2047286	NM_003630.3(PEX3):c.507G>A (p.Gln169=)	PEX3	Single nucleotide variant (synonymous 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 2041093	NM_003630.3(PEX3):c.1039-14A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038072	NM_003630.3(PEX3):c.822A>G (p.Pro274=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032200	NM_003630.3(PEX3):c.1023T>G (p.Pro341=)	PEX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2026595	NM_003630.3(PEX3):c.287+7_287+9del	PEX3	Deletion (intron 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 2024094	NM_003630.3(PEX3):c.747+18A>G	PEX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022911	NM_003630.3(PEX3):c.748-6C>T	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

<< First< Prev

Page of 4