ClinVar for MedGen (Select 1648474) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064783	NM_019088.4(PAF1):c.1445C>T (p.Ser482Leu)	PAF1, SAMD4B (Q411* +1 more)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 2627659	NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]	GNMT, PEX6 (R860W +1 more)	Microsatellite (3 prime UTR variant +2 more)	Peroxisome biogenesis disorder 4B	GPathogenic
Select item 2583117	NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)	PEX1 (W116R)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 2501686	NM_000466.3(PEX1):c.2719-1G>T	PEX1	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GPathogenic
Select item 2499624	NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)	PEX1	Insertion (inframe_indel +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 2499623	NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)	PEX1 (P162T)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	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 1878629	NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)	PEX3 (T64P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 1726968	NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)	PEX1 (K393* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726874	NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)	PEX1 (R418* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726780	NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)	PEX1 (S239* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726753	NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)	PEX1 (Q530fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726617	NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)	PEX1 (K247* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726594	NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)	PEX1 (E290* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1726581	NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)	GATAD1, PEX1 (F1029fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1B +3 more	GPathogenic/Likely pathogenic
Select item 1726545	NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)	GATAD1, PEX1 (L1047* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726543	NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)	PEX1 (S398* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726514	NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)	PEX1 (T171fs)	Insertion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726455	NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)	PEX1 (Q69*)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1726449	NM_000466.3(PEX1):c.1321del (p.Ile441fs)	PEX1 (I233fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726416	NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)	PEX1 (C525* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726409	NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)	PEX1 (E184* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726360	NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)	GATAD1, PEX1 (G1043* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726334	NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)	PEX1 (F253fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726265	NM_000466.3(PEX1):c.1611del (p.Glu538fs)	PEX1 (E330fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726171	NM_000466.3(PEX1):c.2849dup (p.His951fs)	GATAD1, PEX1 (H743fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726168	NM_000466.3(PEX1):c.2770dup (p.Asp924fs)	PEX1 (D716fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726137	NM_000466.3(PEX1):c.1815dup (p.Ser606fs)	PEX1 (S398fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726128	NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)	PEX1 (S358fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1726075	NM_000466.3(PEX1):c.66dup (p.Asn23fs)	LOC129998796, PEX1 (N23fs)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GLikely pathogenic
Select item 1725981	NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)	PEX1 (S12* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725917	NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)	GATAD1, PEX1 (Q755* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725879	NM_000466.3(PEX1):c.3308del (p.Gly1103fs)	GATAD1, PEX1 (G1046fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725832	NM_000466.3(PEX1):c.175_176del (p.Ser59fs)	PEX1 (S59fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725575	NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)	PEX1 (M210fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725305	NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)	PEX1	Indel (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725277	NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)	GATAD1, PEX1 (E1015fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725253	NM_000466.3(PEX1):c.1895del (p.Leu632fs)	PEX1 (L424fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725101	NM_000466.3(PEX1):c.3003del (p.Lys1001fs)	GATAD1, PEX1 (K1001fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725098	NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)	PEX1 (L310fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725090	NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)	PEX1 (K406* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725086	NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)	PEX1 (G85*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725049	NM_000466.3(PEX1):c.532_533del (p.Gln178fs)	PEX1 (Q178fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725038	NM_000466.3(PEX1):c.496del (p.Tyr166fs)	PEX1 (Y166fs)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1725019	NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)	PEX1 (R537* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724960	NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)	GATAD1, PEX1 (S1034fs +2 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724945	NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)	GATAD1, PEX1 (Q1092* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724705	NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)	PEX1 (L382fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724598	NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)	PEX1 (T577fs +2 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724587	NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)	PEX1 (Q507fs +2 more)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724444	NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)	PEX1 (L400fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724441	NM_000466.3(PEX1):c.3422del (p.Gly1141fs)	GATAD1, PEX1 (G1084fs +2 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724433	NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)	PEX1 (S250fs +1 more)	Indel (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724261	NM_000466.3(PEX1):c.805_806del (p.Glu269fs)	PEX1 (E269fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1724078	NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)	PEX1 (Q159* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1723957	NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)	GATAD1, PEX1 (Y770fs +2 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1723945	NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)	PEX1 (I553fs +2 more)	Insertion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1723916	NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)	PEX1 (L282fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1B +1 more	GLikely pathogenic
Select item 1495205	NM_000466.3(PEX1):c.357+1G>T	PEX1	Single nucleotide variant (5 prime UTR variant +1 more)	Zellweger spectrum disorders +3 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 1453236	NM_000466.3(PEX1):c.3622del (p.Arg1208fs)	GATAD1, PEX1 (R1208fs +2 more)	Deletion (frameshift variant)	Heimler syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 1451521	NM_000466.3(PEX1):c.56_80del (p.Val19fs)	LOC129998796, PEX1 (V19fs)	Deletion (frameshift variant +1 more)	Zellweger spectrum disorders +4 more	GPathogenic/Likely pathogenic
Select item 1252072	NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter)	GATAD1, PEX1 (Q1133* +2 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 1A (Zellweger)	GPathogenic
Select item 1252071	NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del)	PEX1	Deletion (inframe_deletion)	Peroxisome biogenesis disorder 1A (Zellweger)	GPathogenic
Select item 1210453	NM_000466.3(PEX1):c.1890del (p.Ala631fs)	PEX1 (A423fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
Select item 1210452	NM_000466.3(PEX1):c.1533del (p.Asp512fs)	PEX1 (D304fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GLikely pathogenic
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 1177033	NM_000466.3(PEX1):c.1484-36G>A	PEX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1174702	NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)	PEX1 (G684E +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GUncertain significance
Select item 1154651	NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders +3 more	GConflicting classifications of pathogenicity
Select item 1153638	NM_000466.3(PEX1):c.2584-10T>C	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GBenign/Likely benign
Select item 1069047	NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)	GATAD1, PEX1 (R1013C +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GPathogenic/Likely pathogenic
Select item 1065420	NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs)	GATAD1, PEX1 (D750fs +2 more)	Indel (frameshift variant)	Heimler syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1036917	NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)	PEX1 (S241P +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1B +3 more	GConflicting classifications of pathogenicity
Select item 971689	NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)	PEX1 (V734I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +5 more	GUncertain significance
Select item 963178	NM_000466.3(PEX1):c.2926+4A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +3 more	GUncertain significance
Select item 911637	NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)	PEX1 (D318N +1 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GUncertain significance
Select item 911572	NM_000466.3(PEX1):c.2912T>C (p.Val971Ala)	GATAD1, PEX1 (V914A +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 911571	NM_000466.3(PEX1):c.2927-8T>C	GATAD1, PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +1 more	GConflicting classifications of pathogenicity
Select item 911570	NM_000466.3(PEX1):c.2954G>A (p.Arg985His)	GATAD1, PEX1 (R777H +2 more)	Single nucleotide variant (missense variant)	Zellweger spectrum disorders +2 more	GUncertain significance
Select item 911513	NM_000466.3(PEX1):c.*292G>A	GATAD1, PEX1	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 911512	NM_000466.3(PEX1):c.*428A>G	GATAD1, PEX1	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910471	NM_000466.3(PEX1):c.-82C>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910470	NM_000466.3(PEX1):c.-77C>G	LOC129998796, PEX1	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910414	NM_000466.3(PEX1):c.1671-13A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +1 more	GConflicting classifications of pathogenicity
Select item 910361	NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile)	GATAD1, PEX1 (L791I +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910360	NM_000466.3(PEX1):c.3030+12A>G	GATAD1, PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 910359	NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)	GATAD1, PEX1	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 1A (Zellweger) +1 more	GConflicting classifications of pathogenicity
Select item 909482	NM_000466.3(PEX1):c.1804-12A>G	PEX1	Single nucleotide variant (intron variant)	Zellweger spectrum disorders +1 more	GConflicting classifications of pathogenicity
Select item 909481	NM_000466.3(PEX1):c.1901-14T>C	PEX1	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 909480	NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)	PEX1 (S441A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 909479	NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)	PEX1 (Q478R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +4 more	GUncertain significance
Select item 909478	NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)	PEX1 (L561P +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 909412	NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)	GATAD1, PEX1 (D1094G +2 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 1A (Zellweger) +2 more	GUncertain significance

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