"Baylor Genetics"[submitter] AND "PEX7"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38871	NM_000288.4(PEX7):c.-45C>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
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 2136476	NM_000288.4(PEX7):c.45_52del (p.Gly16fs)	PEX7 (G16fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 7790	NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)	PEX7 (T14P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GPathogenic
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 3240100	NM_000288.4(PEX7):c.116_130+20del	PEX7	Deletion (splice donor variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 813362	NM_000288.4(PEX7):c.116A>C (p.His39Pro)	PEX7 (H39P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 7788	NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	PEX7 (Y40*)	Single nucleotide variant (nonsense)	Phytanic acid storage disease +5 more	GPathogenic
Select item 639671	NM_000288.4(PEX7):c.130+1G>A	PEX7	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic
Select item 225436	NM_000288.4(PEX7):c.183del (p.Phe61fs)	PEX7 (F61fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 813363	NM_000288.4(PEX7):c.188+1G>A	PEX7	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic/Likely pathogenic
Select item 188975	NM_000288.4(PEX7):c.188+1G>C	PEX7	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 9B +3 more	GPathogenic/Likely pathogenic
Select item 2677726	NM_000288.4(PEX7):c.188+2del	PEX7	Deletion (splice donor variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 3240101	NM_000288.4(PEX7):c.209dup (p.Leu70fs)	PEX7 (L32fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 2677728	NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)	PEX7 (W37* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 813364	NM_000288.4(PEX7):c.233del (p.Asn78fs)	PEX7 (N78fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 2677733	NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)	PEX7 (W57* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 1028672	NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)	PEX7 (T97S)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
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 7787	NM_000288.4(PEX7):c.340-10A>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +3 more	GConflicting classifications of pathogenicity
Select item 1482899	NM_000288.4(PEX7):c.340-1G>T	PEX7	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 9B	GLikely 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 2677724	NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)	PEX7 (Q121* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 659636	NM_000288.4(PEX7):c.363_526+230del	PEX7	Deletion (splice acceptor variant +1 more)	Peroxisome biogenesis disorder 9B	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 3240104	NM_000288.4(PEX7):c.418-2A>G	PEX7	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 9B	GLikely 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 3240103	NM_000288.4(PEX7):c.455del (p.Arg152fs)	PEX7 (R114fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 2677729	NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)	PEX7 (I120fs +1 more)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 1449189	NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)	PEX7 (W163*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	GPathogenic/Likely pathogenic
Select item 3240105	NM_000288.4(PEX7):c.503del (p.Pro168fs)	PEX7 (P130fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 2677734	NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)	PEX7 (C132del +1 more)	Microsatellite (inframe deletion)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 2677732	NM_000288.4(PEX7):c.513del (p.Phe171fs)	PEX7 (F133fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 813365	NM_000288.4(PEX7):c.538_539del (p.Leu180fs)	PEX7 (L180fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely pathogenic
Select item 2677725	NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)	PEX7 (W145* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	GPathogenic/Likely pathogenic
Select item 813366	NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)	PEX7 (Q198*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic/Likely pathogenic
Select item 3240102	NM_000288.4(PEX7):c.612T>A (p.Cys204Ter)	PEX7 (C166* +1 more)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	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 2677727	NM_000288.4(PEX7):c.634-2A>G	PEX7	Single nucleotide variant (splice acceptor variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 7782	NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	PEX7 (G217R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GPathogenic/Likely pathogenic
Select item 7781	NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	PEX7 (A218V)	Single nucleotide variant (missense variant)	Phytanic acid storage disease +3 more	GPathogenic/Likely 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 813367	NM_000288.4(PEX7):c.735dup (p.Arg246Ter)	PEX7 (R246*)	Duplication (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 2677730	NM_000288.4(PEX7):c.747del (p.Lys249fs)	PEX7 (K211fs +1 more)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	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 2677731	NM_000288.4(PEX7):c.803+1G>A	PEX7	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 38872	NM_000288.4(PEX7):c.854A>G (p.His285Arg)	PEX7 (H285R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1926974	NM_000288.4(PEX7):c.858_867del (p.Glu287fs)	PEX7 (E287fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic/Likely pathogenic
Select item 813368	NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)	PEX7	Insertion (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 7780	NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	PEX7 (L292*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 7785	NM_000288.4(PEX7):c.903+1G>C	PEX7	Single nucleotide variant (splice donor variant)	Phytanic acid storage disease +4 more	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic

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Items: 54