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

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558083	NM_000288.4(PEX7):c.-46_-38dup	PEX7	Duplication (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 355525	NM_000288.4(PEX7):c.-3G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 370629	NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	PEX7 (G7fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 371045	NM_000288.4(PEX7):c.31_56del (p.Met11fs)	PEX7 (M11fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 556260	NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)	PEX7	Duplication (inframe_insertion)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 370938	NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)	PEX7 (Y20*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GLikely pathogenic
Select item 188918	NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)	PEX7 (S25F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GConflicting classifications of pathogenicity
Select item 370746	NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)	PEX7 (Y27*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 556255	NM_000288.4(PEX7):c.122G>T (p.Gly41Val)	PEX7 (G41V)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 370520	NM_000288.4(PEX7):c.130+1G>C	PEX7	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 557813	NM_000288.4(PEX7):c.130+32_130+51del	PEX7	Deletion (intron variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely benign
Select item 553298	NM_000288.4(PEX7):c.131-2A>G	PEX7	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 555298	NM_000288.4(PEX7):c.189-2A>G	PEX7	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely pathogenic
Select item 550311	NM_000288.4(PEX7):c.225G>C (p.Trp75Cys)	PEX7 (W75C)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 370682	NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	PEX7 (Q93*)	Single nucleotide variant (nonsense)	Connective tissue disorder +3 more	GPathogenic/Likely pathogenic
Select item 371661	NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)	PEX7 (Q112*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 371166	NM_000288.4(PEX7):c.339+2T>C	PEX7	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7786	NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	PEX7 (Y115*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 554436	NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)	PEX7 (E125*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 188711	NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)	PEX7 (D134N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +2 more	GPathogenic/Likely pathogenic
Select item 554785	NM_000288.4(PEX7):c.429del (p.Val144fs)	PEX7 (V144fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic/Likely pathogenic
Select item 551877	NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)	PEX7 (S164P)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 370867	NM_000288.4(PEX7):c.508del (p.Cys170fs)	PEX7 (C170fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic/Likely pathogenic
Select item 371524	NM_000288.4(PEX7):c.527-2A>G	PEX7	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 370543	NM_000288.4(PEX7):c.545dup (p.Trp183fs)	PEX7 (W183fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 189076	NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	PEX7 (W206*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371080	NM_000288.4(PEX7):c.633+1G>A	PEX7	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GLikely pathogenic
Select item 7783	NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	PEX7 (R232*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 551886	NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)	PEX7 (I245F)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 371420	NM_000288.4(PEX7):c.736_747+17del	PEX7	Deletion (splice donor variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely pathogenic
Select item 370873	NM_000288.4(PEX7):c.748-2A>G	PEX7	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely pathogenic
Select item 370864	NM_000288.4(PEX7):c.774_784del (p.Ala259fs)	PEX7 (A259fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 551503	NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)	PEX7 (S262L)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 549976	NM_000288.4(PEX7):c.806dup (p.Trp270fs)	PEX7 (W270fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 554814	NM_000288.4(PEX7):c.817del (p.Ser273fs)	PEX7 (S273fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 552148	NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)	PEX7	Deletion (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 555002	NM_000288.4(PEX7):c.901C>T (p.Gln301Ter)	PEX7 (Q301*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 553790	NM_000288.4(PEX7):c.904-1G>A	PEX7	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GUncertain significance
Select item 558426	NM_000288.4(PEX7):c.917del (p.Ser306fs)	PEX7 (S306fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 551586	NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer)	PEX7	Deletion (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 556582	NM_000288.4(PEX7):c.970T>G (p.Ter324Gly)	PEX7	Single nucleotide variant (stop lost)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 549908	NM_000288.4(PEX7):c.971G>C (p.Ter324Ser)	PEX7	Single nucleotide variant (stop lost)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance

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Items: 42