PEX12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance
Select item 890753	NM_000286.3(PEX12):c.*923G>A	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322634	NM_000286.3(PEX12):c.*922T>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322635	NM_000286.3(PEX12):c.880_883del	PEX12	Deletion (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GBenign
Select item 322636	NM_000286.3(PEX12):c.*836G>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GBenign
Select item 890754	NM_000286.3(PEX12):c.*783A>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 891988	NM_000286.3(PEX12):c.*781T>A	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GBenign
Select item 322637	NM_000286.3(PEX12):c.*778G>A	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322638	NM_000286.3(PEX12):c.*767CTAAT[1]	PEX12	Microsatellite (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 891989	NM_000286.3(PEX12):c.*708G>A	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322639	NM_000286.3(PEX12):c.*636T>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GBenign
Select item 322640	NM_000286.3(PEX12):c.569_570del	PEX12	Deletion (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely benign
Select item 322641	NM_000286.3(PEX12):c.*569T>A	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322642	NM_000286.3(PEX12):c.550_552del	PEX12	Deletion (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely benign
Select item 322643	NM_000286.3(PEX12):c.*532A>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 891990	NM_000286.3(PEX12):c.*520A>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322644	NM_000286.3(PEX12):c.*519A>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322645	NM_000286.3(PEX12):c.*517A>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GBenign
Select item 889569	NM_000286.3(PEX12):c.*509T>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 322646	NM_000286.3(PEX12):c.*474A>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322647	NM_000286.3(PEX12):c.*433T>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 889570	NM_000286.3(PEX12):c.*411A>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322648	NM_000286.3(PEX12):c.*380G>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 322649	NM_000286.3(PEX12):c.*335T>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 322650	NM_000286.3(PEX12):c.*297T>C	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GBenign
Select item 322651	NM_000286.3(PEX12):c.*166C>A	PEX12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 890223	NM_000286.3(PEX12):c.*109A>G	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 890224	NM_000286.3(PEX12):c.*39G>A	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 890225	NM_000286.3(PEX12):c.*38C>T	PEX12	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 656810	NC_000017.10:g.(?_33902781)_(33905060_?)dup	PEX12	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 556362	NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)	PEX12 (P357fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 728417	NM_000286.3(PEX12):c.1068C>T (p.Ser356=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1973176	NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)	PEX12 (S356F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2739749	NM_000286.3(PEX12):c.1065C>T (p.Tyr355=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1089267	NM_000286.3(PEX12):c.1062C>G (p.Leu354=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1414143	NM_000286.3(PEX12):c.1060C>G (p.Leu354Val)	PEX12 (L354V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1354908	NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe)	PEX12 (L354F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1979854	NM_000286.3(PEX12):c.1051C>T (p.Leu351=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 556045	NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)	PEX12 (Q349del)	Microsatellite (inframe_deletion)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 1306186	NM_000286.3(PEX12):c.1042G>A (p.Val348Ile)	PEX12 (V348I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1066716	NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs)	PEX12 (E347fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2858725	NM_000286.3(PEX12):c.1038A>G (p.Thr346=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1661836	NM_000286.3(PEX12):c.1032T>C (p.Tyr344=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1400228	NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser)	PEX12 (G343S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1912073	NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)	PEX12 (T342I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2020152	NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)	PEX12 (T342A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 555446	NM_000286.3(PEX12):c.1023del (p.Thr342fs)	PEX12 (T342fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 1321526	NM_000286.3(PEX12):c.1022T>A (p.Ile341Asn)	PEX12 (I341N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987984	NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)	PEX12 (I341V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 1041347	NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe)	PEX12 (I341F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2962498	NM_000286.3(PEX12):c.1020C>T (p.Pro340=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1090786	NM_000286.3(PEX12):c.1014T>G (p.Ala338=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1523425	NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr)	PEX12 (A338T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 451464	NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)	PEX12 (Q337*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +2 more	GConflicting classifications of pathogenicity
Select item 2911109	NM_000286.3(PEX12):c.1008C>T (p.His336=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1408885	NM_000286.3(PEX12):c.1008C>A (p.His336Gln)	PEX12 (H336Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1415629	NM_000286.3(PEX12):c.1006C>T (p.His336Tyr)	PEX12 (H336Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 3211499	NM_000286.3(PEX12):c.1005T>A (p.Ser335Arg)	PEX12 (S335R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634688	NM_000286.3(PEX12):c.1003A>C (p.Ser335Arg)	PEX12 (S335R)	Single nucleotide variant (missense variant)	PEX12-related disorder	GUncertain significance
Select item 322652	NM_000286.3(PEX12):c.1002G>A (p.Arg334=)	PEX12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 837474	NM_000286.3(PEX12):c.997G>T (p.Val333Leu)	PEX12 (V333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 557980	NM_000286.3(PEX12):c.987_988del (p.Phe330fs)	PEX12 (F330fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 1940633	NM_000286.3(PEX12):c.987G>A (p.Val329=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2040998	NM_000286.3(PEX12):c.980G>A (p.Arg327His)	PEX12 (R327H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2143345	NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)	PEX12 (R327C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2856123	NM_000286.3(PEX12):c.978C>T (p.Tyr326=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 552325	NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)	PEX12 (Y326*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder type 3B +1 more	GLikely pathogenic
Select item 2004782	NM_000286.3(PEX12):c.972T>C (p.Phe324=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1069399	NM_000286.3(PEX12):c.969_970del (p.Phe324fs)	PEX12 (F324fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic/Likely pathogenic
Select item 1604666	NM_000286.3(PEX12):c.969G>A (p.Val323=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1345863	NM_000286.3(PEX12):c.967G>C (p.Val323Leu)	PEX12 (V323L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2050558	NM_000286.3(PEX12):c.966T>C (p.Tyr322=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 558619	NM_000286.3(PEX12):c.961_964del (p.Gly321fs)	PEX12 (G321fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder type 3B +1 more	GPathogenic/Likely pathogenic
Select item 2837596	NM_000286.3(PEX12):c.963C>G (p.Gly321=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 7775	NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)	PEX12 (S320F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2702609	NM_000286.3(PEX12):c.957C>G (p.Thr319=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 7779	NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)	PEX12 (L317F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder type 3B +1 more	GUncertain significance
Select item 2149207	NM_000286.3(PEX12):c.947T>G (p.Val316Gly)	PEX12 (V316G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1346030	NM_000286.3(PEX12):c.946G>C (p.Val316Leu)	PEX12 (V316L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2750462	NM_000286.3(PEX12):c.945T>A (p.Thr315=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1524156	NM_000286.3(PEX12):c.944C>A (p.Thr315Asn)	PEX12 (T315N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1403799	NM_000286.3(PEX12):c.940G>C (p.Asp314His)	PEX12 (D314H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1950251	NM_000286.3(PEX12):c.939T>C (p.Asn313=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1931688	NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)	PEX12 (N313K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2032367	NM_000286.3(PEX12):c.936G>T (p.Val312=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1669707	NM_000286.3(PEX12):c.936G>A (p.Val312=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1397633	NM_000286.3(PEX12):c.932G>A (p.Arg311Gln)	PEX12 (R311Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 196246	NM_000286.3(PEX12):c.931C>T (p.Arg311Trp)	PEX12 (R311W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2109299	NM_000286.3(PEX12):c.921T>C (p.Cys307=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1069062	NM_000286.3(PEX12):c.920_921del (p.Cys307fs)	PEX12 (C307fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic/Likely pathogenic
Select item 2732288	NM_000286.3(PEX12):c.915A>C (p.Pro305=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1615648	NM_000286.3(PEX12):c.915A>T (p.Pro305=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1417663	NM_000286.3(PEX12):c.913C>G (p.Pro305Ala)	PEX12 (P305A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1405550	NM_000286.3(PEX12):c.913C>T (p.Pro305Ser)	PEX12 (P305S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1141837	NM_000286.3(PEX12):c.912C>T (p.Cys304=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 1069736	NM_000286.3(PEX12):c.910_911del (p.Cys304fs)	PEX12 (C304fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +2 more	GPathogenic/Likely pathogenic
Select item 1386843	NM_000286.3(PEX12):c.908T>C (p.Val303Ala)	PEX12 (V303A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 1307128	NM_000286.3(PEX12):c.907G>A (p.Val303Met)	PEX12 (V303M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1091478	NM_000286.3(PEX12):c.906T>C (p.Thr302=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 848033	NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)	PEX12 (T302I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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