ClinVar for MedGen (Select 766843) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3240086	NM_000286.3(PEX12):c.301_302del (p.Gln101fs)	PEX12 (Q101fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 3240085	NM_000286.3(PEX12):c.220dup (p.Tyr74fs)	PEX12 (Y74fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 3240084	NM_000286.3(PEX12):c.4_5del (p.Met1_Ala2insTer)	PEX12	Deletion (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 3000680	NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)	PEX12 (Q26*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2969044	NM_000286.3(PEX12):c.680+11A>G	PEX12	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2965008	NM_000286.3(PEX12):c.126+1G>C	PEX12	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
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 2911398	NM_000286.3(PEX12):c.486C>T (p.Ala162=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
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 2905354	NM_000286.3(PEX12):c.819C>T (p.Ile273=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2902200	NM_000286.3(PEX12):c.122del (p.Val41fs)	PEX12 (V41fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2863995	NM_000286.3(PEX12):c.163T>C (p.Leu55=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2863712	NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)	PEX12 (S28N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2862029	NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)	PEX12 (L297*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2860450	NM_000286.3(PEX12):c.324C>T (p.Leu108=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
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 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 2855174	NM_000286.3(PEX12):c.564T>C (p.His188=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2847097	NM_000286.3(PEX12):c.498G>A (p.Val166=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2840225	NM_000286.3(PEX12):c.829_832del (p.Thr277fs)	PEX12 (T277fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
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 2833727	NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)	PEX12 (W152*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2831273	NM_000286.3(PEX12):c.698dup (p.Asn233fs)	PEX12 (N233fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2830754	NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)	PEX12 (S190*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2828596	NM_000286.3(PEX12):c.816dup (p.Ile273fs)	PEX12 (I273fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2826288	NM_000286.3(PEX12):c.804A>G (p.Glu268=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2823424	NM_000286.3(PEX12):c.255C>T (p.Asn85=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2817577	NM_000286.3(PEX12):c.54A>G (p.Pro18=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2810691	NM_000286.3(PEX12):c.611_612del (p.Thr204fs)	PEX12 (T204fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2810007	NM_000286.3(PEX12):c.573A>G (p.Pro191=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2809628	NM_000286.3(PEX12):c.684T>C (p.Val228=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2803220	NM_000286.3(PEX12):c.105C>T (p.Pro35=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2801421	NM_000286.3(PEX12):c.624A>T (p.Ile208=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2789446	NM_000286.3(PEX12):c.273A>G (p.Arg91=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2771793	NM_000286.3(PEX12):c.126+17T>C	PEX12	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2766444	NM_000286.3(PEX12):c.27A>G (p.Thr9=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2761910	NM_000286.3(PEX12):c.681-15_681-13del	PEX12	Deletion (intron variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2753981	NM_000286.3(PEX12):c.207G>T (p.Leu69=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2753705	NM_000286.3(PEX12):c.4del (p.Ala2fs)	PEX12 (A2fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2753211	NM_000286.3(PEX12):c.586G>C (p.Ala196Pro)	PEX12 (A196P)	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 2744268	NM_000286.3(PEX12):c.127-7G>T	PEX12	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
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 2736583	NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)	PEX12 (Q259*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2736300	NM_000286.3(PEX12):c.816C>G (p.Thr272=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
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 2711226	NM_000286.3(PEX12):c.483A>G (p.Ala161=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2707294	NM_000286.3(PEX12):c.462A>G (p.Arg154=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2705512	NM_000286.3(PEX12):c.744T>C (p.Ser248=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
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 2701680	NM_000286.3(PEX12):c.69G>A (p.Val23=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2696391	NM_000286.3(PEX12):c.30T>C (p.Ala10=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2694824	NM_000286.3(PEX12):c.846A>G (p.Pro282=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2677666	NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)	PEX12 (S47*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic/Likely pathogenic
Select item 2677665	NM_000286.3(PEX12):c.329dup (p.Gln111fs)	PEX12 (Q111fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 2677664	NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)	PEX12 (D293fs)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 2677663	NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)	PEX12 (L192fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic/Likely pathogenic
Select item 2677662	NM_000286.3(PEX12):c.363del (p.Leu122fs)	PEX12 (L122fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely pathogenic
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2419600	NM_000286.3(PEX12):c.723G>A (p.Gly241=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2419428	NM_000286.3(PEX12):c.51G>C (p.Gln17His)	PEX12 (Q17H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2201009	NM_000286.3(PEX12):c.541dup (p.Tyr181fs)	PEX12 (Y181fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2199763	NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)	PEX12 (L179F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2199293	NM_000286.3(PEX12):c.889T>G (p.Leu297Val)	PEX12 (L297V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2185952	NM_000286.3(PEX12):c.116A>G (p.His39Arg)	PEX12 (H39R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2184538	NM_000286.3(PEX12):c.361G>T (p.Val121Phe)	PEX12 (V121F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2184229	NM_000286.3(PEX12):c.633G>A (p.Leu211=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2179231	NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)	PEX12 (L276S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2177376	NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)	PEX12 (K42Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2168102	NM_000286.3(PEX12):c.399G>T (p.Leu133=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2165432	NM_000286.3(PEX12):c.127-20A>T	PEX12	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2160226	NM_000286.3(PEX12):c.531A>G (p.Gln177=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2157424	NM_000286.3(PEX12):c.546C>G (p.Ile182Met)	PEX12 (I182M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2154921	NM_000286.3(PEX12):c.138A>G (p.Glu46=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2153446	NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)	PEX12 (P35T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2152623	NM_000286.3(PEX12):c.220T>C (p.Tyr74His)	PEX12 (Y74H)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	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 2145151	NM_000286.3(PEX12):c.680+12A>T	PEX12	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2144919	NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)	PEX12 (T78I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2144685	NM_000286.3(PEX12):c.291T>G (p.Thr97=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
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 2141861	NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)	PEX12 (L261F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2141057	NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)	PEX12 (Y143C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2141054	NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)	PEX12 (E139K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2140478	NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)	PEX12 (N291T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 2140066	NM_000286.3(PEX12):c.857T>C (p.Val286Ala)	PEX12 (V286A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger) +1 more	GUncertain significance
Select item 2139682	NM_000286.3(PEX12):c.258T>C (p.Phe86=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2138008	NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)	PEX12	Microsatellite (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2138007	NM_000286.3(PEX12):c.887del (p.Leu296fs)	PEX12 (L296fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2130365	NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)	PEX12 (L133P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2122802	NM_000286.3(PEX12):c.372C>G (p.Pro124=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2120124	NM_000286.3(PEX12):c.33T>C (p.Ala11=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2118321	NM_000286.3(PEX12):c.459del (p.Lys153fs)	PEX12 (K153fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2116235	NM_000286.3(PEX12):c.680_680+12del	PEX12	Deletion (splice donor variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 2114817	NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)	PEX12 (L175R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2111888	NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)	PEX12 (Y181*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic/Likely pathogenic
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 2108146	NM_000286.3(PEX12):c.583C>T (p.Leu195=)	PEX12	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GLikely benign
Select item 2106734	NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)	PEX12 (Y125F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance

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