"GeneDx"[submitter] AND "PEX7"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58155	GRCh38/hg38 6q23.3(chr6:136745817-136859553)x3	LOC113146415, LOC123864077 +15 more	Copy number gain	See cases	GPathogenic
Select item 1200249	NC_000006.12:g.136822467G>T	PEX7	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1272567	NC_000006.12:g.136822473A>T	PEX7	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 674920	NM_000288.4(PEX7):c.-95T>C	PEX7	Single nucleotide variant (genic upstream transcript variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 904145	NM_000288.4(PEX7):c.-65A>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B +2 more	GBenign/Likely benign
Select item 355522	NM_000288.4(PEX7):c.-56C>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 511998	NM_000288.4(PEX7):c.-44G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 255745	NM_000288.4(PEX7):c.-31G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B +2 more	GBenign/Likely benign
Select item 2579438	NM_000288.4(PEX7):c.25G>C (p.Ala9Pro)	PEX7 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509113	NM_000288.4(PEX7):c.96G>A (p.Leu32=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 828090	NM_000288.4(PEX7):c.130+48_130+53dup	PEX7	Duplication (intron variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 1290151	NM_000288.4(PEX7):c.130+94T>C	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225384	NM_000288.4(PEX7):c.130+285G>C	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194925	NM_000288.4(PEX7):c.131-169A>G	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 188975	NM_000288.4(PEX7):c.188+1G>C	PEX7	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 355529	NM_000288.4(PEX7):c.188+3A>G	PEX7	Single nucleotide variant (intron variant)	PEX7-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1191746	NM_000288.4(PEX7):c.188+253C>T	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994433	NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)	PEX7 (N78K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +2 more	GConflicting classifications of pathogenicity
Select item 291202	NM_000288.4(PEX7):c.339+10A>G	PEX7	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1220276	NM_000288.4(PEX7):c.339+84A>G	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675914	NM_000288.4(PEX7):c.339+108C>T	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253681	NM_000288.4(PEX7):c.339+166G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177928	NM_000288.4(PEX7):c.340-282G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185274	NM_000288.4(PEX7):c.340-103A>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +2 more	GBenign/Likely benign
Select item 802274	NM_000288.4(PEX7):c.340-71G>A	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +2 more	GBenign
Select item 255746	NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)	PEX7 (Q126P)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 510664	NM_000288.4(PEX7):c.417+9G>A	PEX7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1262462	NM_000288.4(PEX7):c.417+147G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511484	NM_000288.4(PEX7):c.526+14T>C	PEX7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1223392	NM_000288.4(PEX7):c.526+75G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667823	NM_000288.4(PEX7):c.526+126T>C	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672141	NM_000288.4(PEX7):c.526+207A>G	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239764	NM_000288.4(PEX7):c.527-189G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667824	NM_000288.4(PEX7):c.527-159T>A	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667825	NM_000288.4(PEX7):c.527-124G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198945	NM_000288.4(PEX7):c.527-97G>T	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 355532	NM_000288.4(PEX7):c.615C>T (p.Asp205=)	PEX7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 189076	NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	PEX7 (W206*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B +2 more	GPathogenic/Likely pathogenic
Select item 1296114	NM_000288.4(PEX7):c.634-152C>T	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7782	NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	PEX7 (G217R)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +3 more	GPathogenic/Likely pathogenic
Select item 7781	NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	PEX7 (A218V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GPathogenic/Likely pathogenic
Select item 7783	NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	PEX7 (R232*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GPathogenic
Select item 559080	NM_000288.4(PEX7):c.747+20_747+24del	PEX7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1280394	NM_000288.4(PEX7):c.747+259A>T	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268197	NM_000288.4(PEX7):c.748-205AT[3]	PEX7	Microsatellite (intron variant)	not provided	GBenign
Select item 1165772	NM_000288.4(PEX7):c.748-16C>T	PEX7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 675170	NM_000288.4(PEX7):c.803+45A>G	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675149	NM_000288.4(PEX7):c.803+105A>C	PEX7	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 1296113	NM_000288.4(PEX7):c.803+163C>T	PEX7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187688	NM_000288.4(PEX7):c.804-197dup	PEX7	Duplication (intron variant)	not provided	GLikely benign
Select item 7780	NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	PEX7 (L292*)	Single nucleotide variant (nonsense)	PEX7-related condition +5 more	GPathogenic
Select item 7785	NM_000288.4(PEX7):c.903+1G>C	PEX7	Single nucleotide variant (splice donor variant)	PEX7-Related Disorders +4 more	GPathogenic
Select item 1214372	NM_000288.4(PEX7):c.904-184G>A	PEX7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 430261	NM_000288.4(PEX7):c.922G>T (p.Asp308Tyr)	PEX7 (D308Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 355539	NM_000288.4(PEX7):c.257_258insAGT	PEX7	Insertion (3 prime UTR variant)	not provided +2 more	GBenign
Select item 355544	NM_000288.4(PEX7):c.*306T>G	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 1288658	NC_000006.12:g.136914034G>A	PEX7	Single nucleotide variant	not provided	GBenign

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Items: 57