ClinVar for MedGen (Select 1647369) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2677645	NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)	PEX1 (Q562* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 2677644	NM_000466.3(PEX1):c.727_742dup (p.Met248fs)	PEX1 (M248fs +1 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677643	NM_000466.3(PEX1):c.1777G>T (p.Gly593Ter)	PEX1 (G385* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677642	NM_000466.3(PEX1):c.1359del (p.Leu453fs)	PEX1 (L245fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677641	NM_000466.3(PEX1):c.2835_2841del (p.Ala946fs)	GATAD1, PEX1 (A738fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677640	NM_000466.3(PEX1):c.1240-2A>G	PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677639	NM_000466.3(PEX1):c.1435_1439dup (p.Leu480fs)	PEX1 (L272fs +1 more)	Duplication (frameshift variant)	Heimler syndrome 1	GPathogenic
Select item 2677638	NM_000466.3(PEX1):c.3439-1G>T	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677637	NM_000466.3(PEX1):c.1804G>T (p.Gly602Ter)	PEX1 (G394* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677636	NM_000466.3(PEX1):c.349G>T (p.Glu117Ter)	PEX1 (E117*)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 1	GLikely pathogenic
Select item 2677635	NM_000466.3(PEX1):c.1652T>A (p.Leu551Ter)	PEX1 (L343* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677634	NM_000466.3(PEX1):c.3716dup (p.His1240fs)	GATAD1, PEX1 (H1032fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677633	NM_000466.3(PEX1):c.2592dup (p.Leu865fs)	PEX1 (L657fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677632	NM_000466.3(PEX1):c.3488del (p.Gly1163fs)	GATAD1, PEX1 (G1106fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677631	NM_000466.3(PEX1):c.3169G>T (p.Glu1057Ter)	GATAD1, PEX1 (E1000* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677630	NM_000466.3(PEX1):c.2770del (p.Asp924fs)	PEX1 (D716fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677629	NM_000466.3(PEX1):c.1370_1371del (p.Ile457fs)	PEX1 (I249fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677628	NM_000466.3(PEX1):c.1585C>T (p.Gln529Ter)	PEX1 (Q321* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677627	NM_000466.3(PEX1):c.4_5del (p.Trp2fs)	LOC129998796, PEX1 (W2fs)	Microsatellite (frameshift variant +2 more)	Heimler syndrome 1	GLikely pathogenic
Select item 2677626	NM_000466.3(PEX1):c.56_57del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Microsatellite (frameshift variant +1 more)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 2677625	NM_000466.3(PEX1):c.2072-1G>C	PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677624	NM_000466.3(PEX1):c.2162_2164delinsAA (p.Leu721_Leu722delinsTer)	PEX1	Indel (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677623	NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)	GATAD1, PEX1 (L1120fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 2677622	NM_000466.3(PEX1):c.1786_1787del (p.Leu596fs)	PEX1 (L388fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677621	NM_000466.3(PEX1):c.1671_1672del	PEX1	Microsatellite	Heimler syndrome 1 +1 more	GPathogenic
Select item 2677620	NM_000466.3(PEX1):c.2392C>G (p.Arg798Gly)	PEX1 (R590G +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677619	NM_000466.3(PEX1):c.1728_1735delinsCTGTGA (p.Arg577fs)	PEX1 (R369fs +1 more)	Indel (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677618	NM_000466.3(PEX1):c.43del (p.Ala15fs)	LOC129998796, PEX1 (A15fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 2677617	NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)	GATAD1, PEX1 (Q1112* +2 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 2677616	NM_000466.3(PEX1):c.804del (p.Glu269fs)	PEX1 (E269fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677615	NM_000466.3(PEX1):c.560_566dup (p.Phe189fs)	PEX1 (F189fs)	Duplication (frameshift variant +1 more)	Heimler syndrome 1	GLikely pathogenic
Select item 2677614	NM_000466.3(PEX1):c.1587+1G>C	PEX1	Single nucleotide variant (splice donor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677613	NM_000466.3(PEX1):c.2079del (p.Asn693fs)	PEX1 (N485fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677612	NM_000466.3(PEX1):c.735_737dup (p.Trp246Ter)	PEX1 (W246* +1 more)	Duplication (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677611	NM_000466.3(PEX1):c.1450G>T (p.Glu484Ter)	PEX1 (E276* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677610	NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)	GATAD1, PEX1 (Q1023* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2677609	NM_000466.3(PEX1):c.826dup (p.Met276fs)	PEX1 (M276fs +1 more)	Duplication (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677608	NM_000466.3(PEX1):c.8dup (p.Ser4fs)	LOC129998796, PEX1 (S4fs)	Duplication (frameshift variant +1 more)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 2677607	NM_000466.3(PEX1):c.655del (p.Gln219fs)	PEX1 (Q11fs +1 more)	Deletion (frameshift variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677606	NM_000466.3(PEX1):c.382C>T (p.Gln128Ter)	PEX1 (Q128*)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 1	GPathogenic
Select item 2677605	NM_000466.3(PEX1):c.304_305delinsA (p.Ser102fs)	PEX1 (S102fs)	Indel (frameshift variant +1 more)	Heimler syndrome 1	GLikely pathogenic
Select item 2677604	NM_000466.3(PEX1):c.3030+1del	GATAD1, PEX1	Deletion (splice donor variant)	Heimler syndrome 1	GLikely pathogenic
Select item 2677603	NM_000466.3(PEX1):c.3695C>G (p.Ser1232Ter)	PEX1, GATAD1 (S1024* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1	GLikely pathogenic
Select item 2677602	NM_000466.3(PEX1):c.1508_1509dup (p.Val504Ter)	PEX1 (V296* +1 more)	Microsatellite (nonsense)	Heimler syndrome 1	GPathogenic
Select item 2429151	NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)	PEX1 (I320fs +1 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder +2 more	GPathogenic/Likely pathogenic
Select item 2174078	NM_000466.3(PEX1):c.2001dup (p.Ala668fs)	PEX1 (A460fs +1 more)	Duplication (frameshift variant +1 more)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2134256	NM_000466.3(PEX1):c.3031-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 2118742	NM_000466.3(PEX1):c.273+2T>G	PEX1	Single nucleotide variant (splice donor variant)	Heimler syndrome 1 +1 more	GLikely pathogenic
Select item 2085739	NM_000466.3(PEX1):c.2784-1G>C	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 1 +1 more	GLikely pathogenic
Select item 2059161	NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)	GATAD1, PEX1 (G1139E +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1981810	NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)	PEX1 (E251* +1 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1947058	NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)	PEX1 (L183fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1946654	NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)	GATAD1, PEX1 (L1032fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1903562	NM_000466.3(PEX1):c.3637-1G>A	GATAD1, PEX1	Single nucleotide variant (splice acceptor variant)	Zellweger spectrum disorders +1 more	GLikely pathogenic
Select item 1902843	NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)	PEX1 (Q85* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1803733	NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)	PEX1 (P448S +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 1	GUncertain significance
Select item 1726581	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	GATAD1, PEX1 (F1029fs +2 more)	Microsatellite (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1726455	NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)	PEX1 (Q69*)	Single nucleotide variant (nonsense +1 more)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1711846	NM_000466.3(PEX1):c.1240-1551A>G	PEX1	Single nucleotide variant (intron variant)	Heimler syndrome 1	GPathogenic
Select item 1495205	NM_000466.3(PEX1):c.357+1G>T	PEX1	Single nucleotide variant (5 prime UTR variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic/Likely pathogenic
Select item 1458579	NM_000466.3(PEX1):c.1891del (p.Ala631fs)	PEX1 (A423fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1457878	NM_000466.3(PEX1):c.831_834del (p.Ser278fs)	PEX1 (S70fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1457173	NM_000466.3(PEX1):c.1208del (p.Asn403fs)	PEX1 (N195fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 1456289	NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter)	PEX1 (Q240* +1 more)	Single nucleotide variant (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1455751	NM_000466.3(PEX1):c.269del (p.Gly90fs)	PEX1 (G90fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1451905	NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs)	PEX1 (L618fs +2 more)	Duplication (frameshift variant)	Zellweger spectrum disorders +1 more	GPathogenic
Select item 1451521	NM_000466.3(PEX1):c.56_80del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Deletion (frameshift variant +1 more)	Heimler syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1403370	NM_000466.3(PEX1):c.955C>T (p.Gln319Ter)	PEX1 (Q111* +1 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1403359	NM_000466.3(PEX1):c.2039del (p.Pro680fs)	PEX1 (P680fs +1 more)	Deletion (frameshift variant +1 more)	Heimler syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 1324879	NM_000466.3(PEX1):c.1393_1394del (p.Val465fs)	PEX1 (V257fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1324877	NM_000466.3(PEX1):c.1099del (p.Gln367fs)	PEX1 (Q159fs +1 more)	Deletion (frameshift variant)	Zellweger spectrum disorders +3 more	GPathogenic/Likely pathogenic
Select item 1303054	NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)	PEX1 (L671S +2 more)	Single nucleotide variant (missense variant)	Heimler syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1210451	NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)	PEX1 (Q607* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1209655	NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)	GATAD1, PEX1 (S1017I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209654	NM_000466.3(PEX1):c.1716C>A (p.His572Gln)	PEX1 (H364Q +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance
Select item 1209638	NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr)	PEX1 (I492T +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance
Select item 1209637	NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala)	GATAD1, PEX1 (E1134A +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209636	NM_000466.3(PEX1):c.927C>G (p.His309Gln)	PEX1 (H101Q +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1209635	NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp)	PEX1 (G355D +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +2 more	GUncertain significance
Select item 1174702	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)	PEX1 (G684E +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 1154651	NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 1153638	NM_000466.3(PEX1):c.2584-10T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1B +3 more	GBenign/Likely benign
Select item 1074539	NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer)	PEX1	Microsatellite (nonsense)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic
Select item 1070573	NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)	GATAD1, PEX1 (C1093* +2 more)	Single nucleotide variant (nonsense)	Heimler syndrome 1 +1 more	GPathogenic
Select item 1069047	NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	GATAD1, PEX1 (R1013C +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GPathogenic/Likely pathogenic
Select item 1066589	NM_000466.3(PEX1):c.3207+1G>C	GATAD1, PEX1	Single nucleotide variant (splice donor variant)	Zellweger spectrum disorders +1 more	GPathogenic/Likely pathogenic

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