"GeneDx"[submitter] AND "PEX10"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 296268	NM_002617.4(PEX10):c.*173G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1201303	NM_002617.4(PEX10):c.*102TC[1]	PEX10	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 262787	NM_002617.4(PEX10):c.*11G>A	PEX10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 500751	NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)	PEX10 (R343W +4 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder, complementation group 7 +3 more	GUncertain significance
Select item 262791	NM_002617.4(PEX10):c.913-4G>A	PEX10	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1231445	NM_002617.4(PEX10):c.913-264G>C	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213636	NM_002617.4(PEX10):c.913-287C>T	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320357	NM_002617.4(PEX10):c.912+48G>A	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 497613	NM_002617.4(PEX10):c.839G>A (p.Arg280His)	PEX10 (R300H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 197887	NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)	PEX10 (T294A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 296273	NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	PEX10 (L272fs +4 more)	Deletion (frameshift variant +1 more)	Peroxisome biogenesis disorder +4 more	GPathogenic
Select item 1180486	NM_002617.4(PEX10):c.776+33G>T	PEX10	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1708617	NM_002617.4(PEX10):c.745T>C (p.Trp249Arg)	PEX10 (W105R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 6774	NM_002617.4(PEX10):c.704dup (p.Leu236fs)	PEX10 (L236fs +4 more)	Duplication (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 498828	NM_002617.4(PEX10):c.605G>A (p.Arg202His)	PEX10 (R222H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1259297	NM_002617.4(PEX10):c.601-235A>G	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291891	NM_002617.4(PEX10):c.601-324C>T	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238279	NM_002617.4(PEX10):c.600+282T>C	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6770	NM_002617.4(PEX10):c.600+1G>A	PEX10	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 593419	NM_002617.4(PEX10):c.527G>A (p.Arg176Gln)	PEX10 (R176Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 452215	NM_002617.4(PEX10):c.436C>G (p.Arg146Gly)	PEX10 (R146G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 262789	NM_002617.4(PEX10):c.318G>A (p.Leu106=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 129884	NM_002617.4(PEX10):c.291A>G (p.Thr97=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 129883	NM_002617.4(PEX10):c.279C>T (p.Gly93=)	PEX10	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign
Select item 1252332	NM_002617.4(PEX10):c.194-207G>A	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265984	NM_002617.4(PEX10):c.194-243del	PEX10	Deletion (intron variant)	not provided	GBenign
Select item 559059	NM_002617.4(PEX10):c.113-26C>T	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706890	NM_002617.4(PEX10):c.113-62G>C	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208632	NM_002617.4(PEX10):c.112+89C>T	PEX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449304	NM_002617.4(PEX10):c.4del (p.Ala2fs)	PEX10 (A2fs)	Deletion (frameshift variant +2 more)	Peroxisome biogenesis disorder 6A (Zellweger) +3 more	GPathogenic
Select item 280002	NM_002617.4(PEX10):c.1A>G (p.Met1Val)	PEX10 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1215376	NM_001374426.1(PEX10):c.-321+994C>G	PEX10	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1193281	NM_001374426.1(PEX10):c.-321+950_-321+972dup	PEX10	Duplication (intron variant)	not provided	GLikely benign
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic

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Items: 40