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Pathways
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36 records found for search term Hsf2bp
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
329392748CV2471400single nucleotide variantNM_007031.2(HSF2BP):c.7G>A (p.Glu3Lys)not specified [RCV004280404]uncertain significance214365809043658090Humanname
329352679CV2476876single nucleotide variantNM_007031.2(HSF2BP):c.261C>T (p.Thr87=)not provided [RCV003223108]likely benign214364431943644319Humanname
405265438CV3185664single nucleotide variantNM_007031.2(HSF2BP):c.741G>A (p.Leu247=)not provided [RCV003886228]likely benign214359228043592280Humanname
407464882CV3444068single nucleotide variantNM_007031.2(HSF2BP):c.29C>T (p.Ala10Val)not specified [RCV004635192]uncertain significance214365806843658068Humanname
405803662CV3274257single nucleotide variantNM_007031.2(HSF2BP):c.191T>G (p.Leu64Arg)not specified [RCV004404564]uncertain significance214364438943644389Humanname
405803664CV3274258single nucleotide variantNM_007031.2(HSF2BP):c.251G>A (p.Arg84His)not specified [RCV004404565]uncertain significance214364432943644329Humanname
407464887CV3444069single nucleotide variantNM_007031.2(HSF2BP):c.154G>C (p.Glu52Gln)not specified [RCV004635193]uncertain significance214365662043656620Humanname
597774241CV3689738single nucleotide variantNM_007031.2(HSF2BP):c.250C>T (p.Arg84Cys)not specified [RCV004929061]uncertain significance214364433043644330Humanname
598255855CV3968194single nucleotide variantNM_007031.2(HSF2BP):c.275A>G (p.Asn92Ser)not specified [RCV005346647]likely benign214364430543644305Humanname
126752707CV1035760single nucleotide variantNM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu)Premature ovarian failure 19 [RCV001352695]pathogenic|uncertain significance214363039643630396Human1name
150457252CV1214524single nucleotide variantNM_007031.2(HSF2BP):c.557T>C (p.Leu186Pro)Premature ovarian failure 19 [RCV001615396]likely pathogenic214363033943630339Human1name
150457257CV1214525single nucleotide variantNM_007031.2(HSF2BP):c.382T>C (p.Cys128Arg)Premature ovarian failure 19 [RCV001615397]likely pathogenic214363333143633331Human1name
156326774CV2219683single nucleotide variantNM_007031.2(HSF2BP):c.444T>A (p.Asp148Glu)not specified [RCV004095398]uncertain significance214363045243630452Humanname
155929716CV2278268single nucleotide variantNM_007031.2(HSF2BP):c.472G>A (p.Gly158Ser)not specified [RCV004147578]uncertain significance214363042443630424Humanname
156011890CV2291196single nucleotide variantNM_007031.2(HSF2BP):c.799C>G (p.Pro267Ala)not specified [RCV004153494]uncertain significance214352996043529960Humanname
156218052CV2344700single nucleotide variantNM_007031.2(HSF2BP):c.622C>T (p.Arg208Trp)not specified [RCV004190860]uncertain significance214361390043613900Humanname
155986358CV2363646single nucleotide variantNM_007031.2(HSF2BP):c.609G>C (p.Leu203Phe)not specified [RCV004216598]uncertain significance214361391343613913Humanname
155961604CV2388075single nucleotide variantNM_007031.2(HSF2BP):c.856C>A (p.Pro286Thr)not specified [RCV004241203]uncertain significance214352990343529903Humanname
401729509CV2733120single nucleotide variantNM_007031.2(HSF2BP):c.911G>A (p.Arg304His)not specified [RCV004332051]uncertain significance214352984843529848Humanname
405803666CV3274259single nucleotide variantNM_007031.2(HSF2BP):c.326C>T (p.Ala109Val)not specified [RCV004404566]uncertain significance214363338743633387Humanname
405803668CV3274260single nucleotide variantNM_007031.2(HSF2BP):c.448G>T (p.Ala150Ser)not specified [RCV004404567]uncertain significance214363044843630448Humanname
405803670CV3274261single nucleotide variantNM_007031.2(HSF2BP):c.517C>A (p.Gln173Lys)not specified [RCV004404568]likely benign214363037943630379Humanname
405803672CV3274262single nucleotide variantNM_007031.2(HSF2BP):c.599G>A (p.Arg200His)not specified [RCV004404569]uncertain significance214361392343613923Humanname
405803673CV3274263single nucleotide variantNM_007031.2(HSF2BP):c.856C>G (p.Pro286Ala)not specified [RCV004404570]uncertain significance214352990343529903Humanname
405803675CV3274264single nucleotide variantNM_007031.2(HSF2BP):c.943C>T (p.Arg315Cys)not specified [RCV004404571]uncertain significance214352981643529816Humanname
407464877CV3444067single nucleotide variantNM_007031.2(HSF2BP):c.440G>A (p.Gly147Glu)not specified [RCV004635191]uncertain significance214363327343633273Humanname
596946015CV3548175single nucleotide variantNM_007031.2(HSF2BP):c.670G>T (p.Gly224Ter)not provided [RCV004809506]uncertain significance214361385243613852Humanname
597774252CV3689741single nucleotide variantNM_007031.2(HSF2BP):c.483G>A (p.Met161Ile)not specified [RCV004929063]uncertain significance214363041343630413Humanname
597774256CV3689742single nucleotide variantNM_007031.2(HSF2BP):c.689A>G (p.Lys230Arg)not specified [RCV004929064]uncertain significance214361383343613833Humanname
597774260CV3689743single nucleotide variantNM_007031.2(HSF2BP):c.493G>A (p.Val165Met)not specified [RCV004929065]uncertain significance214363040343630403Humanname
597774264CV3689744single nucleotide variantNM_007031.2(HSF2BP):c.935G>A (p.Arg312His)not specified [RCV004929066]uncertain significance214352982443529824Humanname
597774269CV3689745single nucleotide variantNM_007031.2(HSF2BP):c.632T>G (p.Leu211Trp)not specified [RCV004929067]uncertain significance214361389043613890Humanname
597774273CV3689746single nucleotide variantNM_007031.2(HSF2BP):c.319A>G (p.Asn107Asp)not specified [RCV004929068]uncertain significance214363339443633394Humanname
597774278CV3689747single nucleotide variantNM_007031.2(HSF2BP):c.664A>G (p.Lys222Glu)not specified [RCV004929069]uncertain significance214361385843613858Humanname
8628619CV83763single nucleotide variantNM_007031.1(HSF2BP):c.532G>A (p.Asp178Asn)Malignant melanoma [RCV000063844]not provided214363036443630364Humanname
405269429CV3187359deletionNM_007031.2(HSF2BP):c.634_645del (p.Asp212_Leu215del)not provided [RCV003887443]uncertain significance214361387743613888Humanname