ClinVar for MedGen (Select 347072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362836	NM_000288.4(PEX7):c.719del (p.Gly240fs)	PEX7 (G202fs +1 more)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GPathogenic
Select item 3336540	NM_000288.4(PEX7):c.283T>G (p.Trp95Gly)	PEX7 (W57G +1 more)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1	GPathogenic
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 1726732	NM_000288.4(PEX7):c.297del (p.Ala100fs)	PEX7 (A100fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1726323	NM_000288.4(PEX7):c.122_123del (p.Gly41fs)	PEX7 (G41fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1726163	NM_000288.4(PEX7):c.638dup (p.Leu213fs)	PEX7 (L213fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1725870	NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)	PEX7 (L185* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1725811	NM_000288.4(PEX7):c.206del (p.Gly69fs)	PEX7 (G69fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1725220	NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)	PEX7 (E117* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1724325	NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)	PEX7 (L228fs)	Indel (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1723995	NM_000288.4(PEX7):c.46_47del (p.Gly16fs)	PEX7 (G16fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1723922	NM_000288.4(PEX7):c.323_324del (p.Lys108fs)	PEX7 (K108fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1723913	NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)	PEX7 (K170* +1 more)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1698602	NM_000288.4(PEX7):c.418-1G>A	PEX7	Single nucleotide variant (splice acceptor variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
Select item 1339708	NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)	PEX7 (Q126*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 1338760	NM_000288.4(PEX7):c.294del (p.Ala100fs)	PEX7 (A100fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GPathogenic
Select item 1209595	NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)	PEX7 (R13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1185274	NM_000288.4(PEX7):c.340-103A>G	PEX7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1163858	NM_000288.4(PEX7):c.803+4C>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +3 more	GUncertain significance
Select item 1010243	NM_000288.4(PEX7):c.129G>C (p.Ala43=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +2 more	GUncertain significance
Select item 992061	NM_000288.4(PEX7):c.760C>T (p.His254Tyr)	PEX7 (H254Y)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 992060	NM_000288.4(PEX7):c.449C>T (p.Thr150Ile)	PEX7 (T150I)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 907583	NM_000288.4(PEX7):c.*223T>A	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 907582	NM_000288.4(PEX7):c.*124A>G	PEX7	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 907581	NM_000288.4(PEX7):c.*115A>G	PEX7	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 907526	NM_000288.4(PEX7):c.496C>T (p.His166Tyr)	PEX7 (H166Y)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 904979	NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)	PEX7 (T266I)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 904922	NM_000288.4(PEX7):c.-18C>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 904199	NM_000288.4(PEX7):c.554T>C (p.Val185Ala)	PEX7 (V185A)	Single nucleotide variant (missense variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GUncertain significance
Select item 904145	NM_000288.4(PEX7):c.-65A>T	PEX7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 904144	NM_000288.4(PEX7):c.-69C>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 850298	NM_000288.4(PEX7):c.128C>T (p.Ala43Val)	PEX7 (A43V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 818164	NM_000288.4(PEX7):c.803+5A>G	PEX7	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 813368	NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)	PEX7	Insertion (inframe_insertion)	Peroxisome biogenesis disorder 9B +2 more	GConflicting classifications of pathogenicity
Select item 813367	NM_000288.4(PEX7):c.735dup (p.Arg246Ter)	PEX7 (R246*)	Duplication (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely 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 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 813364	NM_000288.4(PEX7):c.233del (p.Asn78fs)	PEX7 (N78fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely 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 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 802274	NM_000288.4(PEX7):c.340-71G>A	PEX7	Single nucleotide variant (intron variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 795513	NM_000288.4(PEX7):c.903+8A>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +1 more	GConflicting classifications of pathogenicity
Select item 770928	NM_000288.4(PEX7):c.748-4G>T	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B	GLikely benign
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 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 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 593499	NM_000288.4(PEX7):c.843A>G (p.Thr281=)	PEX7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 558083	NM_000288.4(PEX7):c.-46_-38dup	PEX7	Duplication (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
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 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 556260	NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)	PEX7	Duplication (inframe_insertion)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
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 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 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 554814	NM_000288.4(PEX7):c.817del (p.Ser273fs)	PEX7 (S273fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	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 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 553790	NM_000288.4(PEX7):c.904-1G>A	PEX7	Single nucleotide variant (splice acceptor variant)	Phytanic acid storage disease +2 more	GUncertain significance
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 552148	NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)	PEX7	Deletion (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 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 551586	NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer)	PEX7	Deletion (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
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 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 549976	NM_000288.4(PEX7):c.806dup (p.Trp270fs)	PEX7 (W270fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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
Select item 509113	NM_000288.4(PEX7):c.96G>A (p.Leu32=)	PEX7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 500853	NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)	PEX7 (R232Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GConflicting classifications of pathogenicity
Select item 498141	NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)	PEX7 (P29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 436288	NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)	PEX7	Deletion (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GPathogenic
Select item 436287	NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)	PEX7 (L214P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +2 more	GConflicting classifications of pathogenicity
Select item 436286	NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)	PEX7 (W119*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GPathogenic
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 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 371420	NM_000288.4(PEX7):c.736_747+17del	PEX7	Deletion (splice donor variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely 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 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 371045	NM_000288.4(PEX7):c.31_56del (p.Met11fs)	PEX7 (M11fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 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 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 370864	NM_000288.4(PEX7):c.774_784del (p.Ala259fs)	PEX7 (A259fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 370682	NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	PEX7 (Q93*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1 +3 more	GPathogenic/Likely 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 370543	NM_000288.4(PEX7):c.545dup (p.Trp183fs)	PEX7 (W183fs)	Duplication (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 355545	NM_000288.4(PEX7):c.*367T>C	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
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 355543	NM_000288.4(PEX7):c.*305C>T	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 355542	NM_000288.4(PEX7):c.*305C>A	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 355540	NM_000288.4(PEX7):c.*272A>G	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GConflicting classifications of pathogenicity
Select item 355538	NM_000288.4(PEX7):c.*38G>A	PEX7	Single nucleotide variant (3 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GConflicting classifications of pathogenicity
Select item 355537	NM_000288.4(PEX7):c.961A>G (p.Ile321Val)	PEX7 (I321V)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GUncertain significance
Select item 355536	NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)	PEX7 (Y314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 355535	NM_000288.4(PEX7):c.804-5C>T	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +1 more	GConflicting classifications of pathogenicity
Select item 355534	NM_000288.4(PEX7):c.748-10T>C	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B +1 more	GConflicting classifications of pathogenicity

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