"GeneDx"[submitter] AND "PEX6"[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 356786	NM_000287.4(PEX6):c.*438TAAA[1]	GNMT, PEX6	Microsatellite (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 356789	NM_000287.4(PEX6):c.*319C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 356790	NM_000287.4(PEX6):c.*212C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1707121	NM_000287.4(PEX6):c.*181dup	PEX6	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 255741	NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)	PEX6 (A979V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GBenign/Likely benign
Select item 373489	NM_000287.4(PEX6):c.2891dup (p.Gln965fs)	PEX6 (Q877fs +1 more)	Duplication (frameshift variant +1 more)	not specified +1 more	GUncertain significance
Select item 1307510	NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp)	PEX6 (R869W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 502346	NM_000287.4(PEX6):c.2867C>T (p.Ala956Val)	PEX6 (A956V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 92787	NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)	PEX6 (P939Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 92786	NM_000287.4(PEX6):c.2814G>A (p.Glu938=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign
Select item 1216451	NM_000287.4(PEX6):c.2806+78G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 498696	NM_000287.4(PEX6):c.2783G>A (p.Arg928His)	PEX6 (R928H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 235682	NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)	PEX6 (A924S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1181155	NM_000287.4(PEX6):c.2667-48G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign
Select item 1212675	NM_000287.4(PEX6):c.2667-64G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683990	NM_000287.4(PEX6):c.2663G>A (p.Arg888His)	PEX6 (R800H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255739	NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)	PEX6 (V882I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 984940	NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)	PEX6 (R772Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GLikely pathogenic
Select item 857250	NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)	PEX6 (I845T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +4 more	GUncertain significance
Select item 194165	NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)	PEX6 (R814* +1 more)	Single nucleotide variant (nonsense +1 more)	Heimler syndrome 2 +4 more	GPathogenic
Select item 167463	NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)	PEX6 (A809V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 92785	NM_000287.4(PEX6):c.2364G>A (p.Val788=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 556244	NM_000287.4(PEX6):c.2362G>A (p.Val788Met)	PEX6 (V788M +1 more)	Single nucleotide variant (missense variant)	Heimler syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 1059567	NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln)	PEX6 (R698Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2579803	NM_000287.4(PEX6):c.2314G>T (p.Glu772Ter)	PEX6 (E684* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2430659	NM_000287.4(PEX6):c.2236C>T (p.Pro746Ser)	PEX6 (P658S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354836	NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg)	PEX6 (S644R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311801	NM_000287.4(PEX6):c.2132A>G (p.Gln711Arg)	PEX6 (Q623R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497810	NM_000287.4(PEX6):c.2104G>A (p.Val702Met)	PEX6 (V702M +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 286981	NM_000287.4(PEX6):c.2095-21_2095-10del	PEX6	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92781	NM_000287.4(PEX6):c.1961+20G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 559074	NM_000287.4(PEX6):c.1885-24G>A	PEX6	Single nucleotide variant (intron variant)	Heimler syndrome 2 +3 more	GBenign
Select item 1214242	NM_000287.4(PEX6):c.1885-109C>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295405	NM_000287.4(PEX6):c.1885-111_1885-110del	PEX6	Deletion (intron variant)	not provided	GBenign
Select item 1203472	NM_000287.4(PEX6):c.1885-177G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707133	NM_000287.4(PEX6):c.1885-192C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295400	NM_000287.4(PEX6):c.1885-222A>G	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274082	NM_000287.4(PEX6):c.1884+110C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 217426	NM_000287.4(PEX6):c.1841del (p.Leu614fs)	PEX6 (L526fs +1 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 198709	NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	PEX6 (R601Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +7 more	GConflicting classifications of pathogenicity
Select item 632484	NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)	PEX6 (R601W +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1213375	NM_000287.4(PEX6):c.1689-60G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192775	NM_000287.4(PEX6):c.1689-275A>G	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228913	NM_000287.4(PEX6):c.1688+106del	PEX6	Deletion (intron variant)	not provided	GBenign
Select item 1187932	NM_000287.4(PEX6):c.1688+88C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203722	NM_000287.4(PEX6):c.1688+33G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559075	NM_000287.4(PEX6):c.1688+30C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255738	NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)	PEX6 (A549V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GBenign/Likely benign
Select item 92780	NM_000287.4(PEX6):c.1480-5C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 1279775	NM_000287.4(PEX6):c.1480-123C>G	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233897	NM_000287.4(PEX6):c.1479+110C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263254	NM_000287.4(PEX6):c.1368-177G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251008	NM_000287.4(PEX6):c.1367+280G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249833	NM_000287.4(PEX6):c.1367+230G>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 579632	NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)	PEX6 (G437D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356797	NM_000287.4(PEX6):c.1234-8_1234-7dup	PEX6	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 281978	NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)	PEX6 (E391K +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +2 more	GConflicting classifications of pathogenicity
Select item 1707120	NM_000287.4(PEX6):c.1131-106G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239950	NM_000287.4(PEX6):c.1130+108T>C	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270219	NM_000287.4(PEX6):c.1130+106C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188660	NM_000287.4(PEX6):c.1130+95C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707225	NM_000287.4(PEX6):c.1047-76G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193539	NM_000287.4(PEX6):c.1046+257G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192929	NM_000287.4(PEX6):c.1046+250del	PEX6	Deletion (intron variant)	not provided	GLikely benign
Select item 1295404	NM_000287.4(PEX6):c.1046+162C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356801	NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)	PEX6 (R343Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 92791	NM_000287.4(PEX6):c.883-3T>C	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 4B +5 more	GBenign
Select item 559079	NM_000287.4(PEX6):c.883-28del	PEX6	Deletion (intron variant)	not provided	GBenign
Select item 1248131	NM_000287.4(PEX6):c.883-230C>T	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295406	NM_000287.4(PEX6):c.882+129G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205645	NM_000287.4(PEX6):c.882+86G>C	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 285539	NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)	PEX6 (P285A)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GConflicting classifications of pathogenicity
Select item 217424	NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	PEX6 (P274L)	Single nucleotide variant (missense variant +2 more)	Peroxisome biogenesis disorder 4A (Zellweger) +5 more	GPathogenic/Likely pathogenic
Select item 255743	NM_000287.4(PEX6):c.813G>T (p.Ala271=)	PEX6	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 281977	NM_000287.4(PEX6):c.685A>G (p.Arg229Gly)	PEX6 (R229G)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
Select item 3253007	NM_000287.4(PEX6):c.647G>T (p.Gly216Val)	PEX6 (G216V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 92789	NM_000287.4(PEX6):c.399G>T (p.Val133=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 92788	NM_000287.4(PEX6):c.330C>G (p.Thr110=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 92784	NM_000287.4(PEX6):c.235G>C (p.Ala79Pro)	PEX6 (A79P)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +3 more	GBenign/Likely benign
Select item 92783	NM_000287.4(PEX6):c.210G>A (p.Gly70=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +5 more	GBenign/Likely benign
Select item 92782	NM_000287.4(PEX6):c.207C>T (p.Pro69=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +3 more	GBenign
Select item 356808	NM_000287.3(PEX6):c.-55C>T	PEX6	Single nucleotide variant	not provided +1 more	GBenign
Select item 1229212	NC_000006.12:g.42979275G>C	PEX6	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1174448	NC_000006.12:g.42979305G>T	PEX6	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1204278	NC_000006.12:g.42979411G>A	PEX6	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1182533	NC_000006.12:g.42979453A>G	PEX6	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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Items: 88